A. Marfanoid features B. Phaeochromocytoma C. Medullary carcinoma of the thyroid Your answer D. Parathyroid hyperplasia Correct answer E. Mucosal neuromas MEN-1 (multiple endocrine neoplasia type-1 Werner!s syndrome" in#ol#es the three P!s$ parathyroid% pituitary% pancreas& Parathyroid 'yperparathyroidism is the most common manifestation in MEN-1 Pituitary Prolactinomas are most common in the pituitary gland Pancreas (econd most common in#ol#ement in MEN-1& Pancreatic tumours are associated with$ (a" pancreatic polypeptide ()*+,*-" (." gastrin (/ollinger+Ellison syndrome" + recurrent peptic ulcers (c" insulinoma + hypoglycaemia (d" glucagonoma + hyperglycaemia and s0in rash (necrolytic migratory erythema" (e" 12Poma (#asoacti#e intestinal polypeptide-secreting tumour" + 1erner+ Morrison syndrome or watery diarrhoea hypo0alaemia achlorhydria (W3'4 syndrome" MEN-5 usually in#ol#es the thyroid and parathyroid glands and phaeochromocytoma& 6he mode of inheritance in MEN-1 is autosomal-dominant& MEN-54 is characterised .y medullary thyroid carcinoma% parathyroid hyperplasia7adenoma and phaeochromocytoma& 2n addition% MEN-58 ((ipple!s syndrome" has mucosal and gastrointestinal (92" neuromas and marfanoid features& 4 :*-year-old woman with ulcerati#e colitis is admitted with a history of ;aundice% pruritus and intermittent a.dominal pain& E<amination shows hepatosplenomegaly and mild ascites& 8lood tests confirm an o.structi#e ;aundice% and mitochondrial anti.odies are not detected& What is the most li0ely diagnosis? A. =i#er cirrhosis B. Chronic acti#e hepatitis C. (clerosing cholangitis Correct answer D. Metastatic carcinoma E. Pancreatic carcinoma 6his patient has inflammatory .owel disease and is at ris0 of de#eloping sclerosing cholangitis& 6his results from inflammation and fi.rosis of the .ile ducts leading to multiple areas of narrowing throughout the .iliary system& Patients with 423( also de#elop sclerosing cholangitis& Patients may .e asymptomatic or may present as a.o#e& 6he al0aline phosphatase le#el is high and the mitochondrial anti.ody is not detected& =i#er .iopsy will show fi.rous o.literati#e cholangitis with loss of interlo.ular and ad;acent septal .ile ducts& 4n E>CP will demonstrate the multiple strictures& 6reatment is unsatisfactory + methotre<ate has .een used% .ut li#er transplantation may .e needed& 4 *?-year-old man with se#ere e<ertional dyspnoea is admitted with ;aundice and ascites& 'is father died of respiratory illness at *: years of age& 8iliru.in% 4(6 and al0aline phosphatase are ele#ated and li#er .iopsy re#eals the presence of P4(- positi#e% diastase-resistant glo.ules in periportal hepatocytes& What is the most li0ely diagnosis? A. 4lcoholic li#er disease B. 4lpha1-antitrypsin deficiency Correct answer C. Cor pulmonale D. 8udd+Chiari syndrome E. 'aemochromatosis 6he com.ination of li#er disease% se#ere e<ertional dyspnoea and a family history of lung disease suggests the diagnosis& 4 *,-year-old man!s EC9 shows a com.ination of a prolonged @6 inter#al with tall 6 wa#es& What is this suggesti#e of? 4& Araemia Correct answer 8& 'ypocalcaemia C& 'ypo0alaemia 3& 'ypermagnesaemia Your answer E& Meta.olic al0alosis 4 prolonged @6 inter#al is due to hypocalcaemia and tall 6 wa#es to hyper0alaemia and7or acidosis% which can .e caused .y uraemia& 6he main EC9 change resulting from hypocalcaemia is a long @6 inter#al due to prolongation of the (6 segment&'ypo0alaemia is caused .y potassium-wasting diuretics% potassium-wasting diarrhoea and hypo0alaemic periodic paralysis& 6he hallmar0 of the effect of hypo0alaemia on the EC9 is the de#elopment of large A wa#es (positi#e deflection after the 6 wa#e"& 6he normal A wa#e is produced .y repolarisation of the 'is+ Pur0in;e system& 6he epsilon potential is seen on the EC9 of patients with which of the following? 4& 'ypertrophic cardiomyopathy 8& >estricti#e cardiomyopathy C& >ight #entricular dysplasia Correct answer 3& >omano Ward syndrome E& 3igo<in to<icity 6he epsilon potential is a right #entricular conduction delay% and appears as a sharp deflection after termination of the @>( comple< during the (6 segment or upstro0e of the 6 wa#e& 2t is seen in the right #entricular leads 11 and 15& (Bontaine named the wa#es Cepsilon! since epsilon follows delta in the 9ree0 alpha.et&">ight #entricular dysplasia is characterised .y the displacement of myocytes .y fat& 6his delays the e<citation and depolarisation of those #ia.le myocytes en#eloped .y the fatty tissue% and so leads to epsilon potentials& 4 D:-year-old professional foot.aller is e#aluated for symptoms of CdiEEiness! during e<ercise& Physical e<amination re#eals a laterally displaced apical impulse& Fn auscultation% there is a 57? mid-systolic murmur in the aortic area that increases on sudden standing& 6he EC9 shows =1' and @ wa#es in the 15+1* leads& What is the most li0ely diagnosis? 4& Young-onset hypertension 8& 4cute M2 C& 4ortic stenosis 3& 'ypertrophic cardiomyopathy Correct answer E& 4trial septal defect 'ypertrophic cardiomyopathy is the single% most common cause of sudden death in young athletes& 6he ma;ority of patients are asymptomatic or only mildly symptomatic& (yncope and sudden death are associated with se#ere e<ertion and competiti#e sports% which should .e a#oided in patients with hypertrophic cardiomyopathy& 6he most common symptom is dyspnoea& 6ypical e<amination findings include left #entricular hypertrophy and a loud (:& Borceful atrial systole causes a dou.le apical impulse& 4 triple apical impulse can also occur due to a late systolic .ulge& 6he carotid pulse also demonstrates a late systolic pulse causing the characteristic ;er0y feature& 2n contrast to aortic stenosis% the systolic murmur of hypertrophic cardiomyopathy does not radiate to the carotids& Moreo#er% it decreases on sGuatting and passi#e leg ele#ation and increases with the 1alsal#a manoeu#re& 6he most common changes seen on the EC9 are (6+6 wa#e a.normalities followed .y =1'& @ wa#es may also occur in leads 22% 222% a1B or 15+1?& 6he e<act cause of the @ wa#es remains unclear& Which of the following arrhythmias is unusual in digo<in to<icity? 4& Non-paro<ysmal atrial tachycardia with #arying .loc0 8& Birst-degree heart .loc0 C& 6ype-22 second-degree heart .loc0 Correct answer 3& Wen0e.ach phenomenon E& 8idirectional #entricular tachycardia 3igo<in to<icity can result in any a.normal cardiac rhythm e<cept type-22 second- degree atrio#entricular (41" .loc0& 6he characteristic arrhythmia includes non- paro<ysmal atrial tachycardia with #arying .loc0& 6he other common arrhythmias include first-degree heart .loc0% Wen0e.ach (type-2 second-degree .loc0" and complete (third degree" heart .loc0% #entricular ectopics and #entricular tachycardia (16" (uni- and .i-directional"& 1entricular fi.rillation (1B" can also rarely occur& 4nother unusual arrhythmia is atrial flutter&Bactors predisposing to digitalis to<icity are ad#anced age% hypo<ia% hypo0alaemia% hypomagnesaemia% hypercalcaemia% hypothyroidism% amyloidosis and renal failure& 6he most common precipitating factor is hypo0alaemia& 6he earliest signs of digitalis to<icity include nausea% #omiting and anore<ia& Chronic to<icity causes e<acer.ation of heart failure% weight loss% gynaecomastia and yellow #ision& 4 ?,-year-old man% although asymptomatic from the cardiac #iewpoint% has an e;ection systolic murmur .est heard in the aortic area& 6he murmur radiates to the carotids& Echocardiography confirms se#ere aortic stenosis with a gradient of ,* mm'g across the calcified aortic #al#e& What is the incidence of sudden cardiac death in such patients? 4& D+*- Correct answer 8& ?+H- C& 1I+5*- 3& 5*+*I- E& More than )*- 6he natural history of aortic stenosis (4(" in adults is characterised .y a long latent period% during which there is a gradually increasing o.struction and an increase in the pressure load on the myocardium while the patient remains asymptomatic& Fnce symptoms appear in patients with an unrelie#ed o.struction% the prognosis is poor& (ur#i#al cur#es ha#e shown that the inter#al from the onset of symptoms to the time of death is appro<imately two years in patients with heart failure% three years in those with syncope and fi#e years in those with angina& 8efore the ad#ent of surgery% sudden cardiac death was Guite common in cases of aortic stenosis (in 1H?,% Camp.ell reported that of )I patients with aortic stenosis who died% :: ()D-" of the deaths were sudden& 4lthough 4( may .e responsi.le for sudden death% this usually occurs in patients who ha#e pre#iously .een symptomatic&6here is a ?+H- incidence of sudden cardiac death in asymptomatic children with aortic stenosis& 4n 1,-year-old woman is referred to the haematology out-patients department .y the gynaecologists who can!t find a structural or hormonal cause for her se#ere menorrhagia& Clinical e<amination is unremar0a.le apart from her pallor% and she is on no medication& 4 full .lood count shows$'. ,&: g7l MC1 )1 fl >3W 51- WCC )&5 J 1ID7mmD platelets *I1 J 1ID7mmD& 'er li#er function and renal function are normal% as is her prothrom.in time& Which is the most useful in#estigation to perform ne<t? 4& Bactor 1222$C le#el 8& 8one marrow aspirate C& (erum ferritin 3& 4cti#ated partial throm.oplastin time E& #on Wille.rand factor le#el Correct answer 6his young woman most li0ely has an iron deficiency anaemia and reacti#e throm.ocytosis& 'er prothrom.in time is normal% so an acGuired coagulation disorder is unli0ely as they typically affect .oth the prothrom.in time (P6" and acti#ated partial throm.oplastin time (4P66"& With a normal platelet count (hence a .one marrow differential is less helpful" the defect either lies in the le#el of factors that affect the 4P66 or in platelet function& Platelet dysfunction is more commonly acGuired due to renal or li#er disease% drugs and myeloproliferati#e disease& 2nherited causes include 9lanEmann!s throm.aesthenia (lac0 of glycoprotein (gp" 22.7222a e<pression" and 8ernard+(oulier syndrome (lac0 of .inding to intact #on Wille.rand factor (#WB" "& #on Wille.rand!s disease (#W3" causes reduced platelet function (as #WB mediates platelet .inding to e<posed su.endothelial cells" as well as a reduced factor 1222$C le#el as #WB also sta.ilises factor 1222& 'aemophilia 4 causes a reduced circulating le#el of factor 1222$C due to the reduced production of factor 1222& 'ence the 4P66 will .e prolonged in .oth these conditions and will not differentiate #on Wille.rand!s disease from a coagulation-factor deficiency& Burthermore% se#ere menorrhagia is a typical presentation of #W3 as it reflects the reduced platelet function e<acer.ating mucosal .leeding& 4 5D-year-old woman presents to 4KE with oral .leeding& (he has noticed it more freGuently o#er the past two wee0s and has .ecome .reathless when wal0ing up stairs& (he has a history of epilepsy and ta0es phenytoin and a com.ined oral contracepti#e pill& Fn e<amination% she is afe.rile with swollen gums and has con;uncti#al pallor& 6here is no palpa.le lymphadenopathy and no a.dominal organomegaly& 8lood tests show$'. ?&: g7dl MC1 ,5 fl >3W 5,- platelets 1H J 1ID7mmD WCC 11 J 1ID7mmD prothrom.in time (P6" DH s acti#ated partial throm.oplastin time (4P66" H, s low fi.rinogen increasing fi.rin-degradation products (B3Ps" al.umin D: g7dl& What is the unifying diagnosis? 4& Phenytoin to<icity 8& 4cute lymphocytic leu0aemia C& 3isseminated intra#ascular coagulation 3& 4cute promyelocytic leu0aemia Correct answer E& 4cute myelomonocytic leu0aemia 6his young woman has e#idence of 32C (low platelets% prolonged clotting times% anaemia with a high >3W (red cell distri.ution width" due to schistocyte formation from intra#ascular mechanical haemolysis"& 'owe#er% 32C is not spontaneous and a unifying diagnosis must identify a cause& 4== does not cause 32C unless there is coe<istent sepsis% .ut this patient is afe.rile& 4cute myelomonocytic leu0aemia does cause acute marrow failure with swollen gums .ut not 32C in the a.sence of sepsis& 4cute PM= (or 4M=-MD" is associated with the translocation t(1*$1)" and can present with 32C caused .y the .rea0down of promyelocytes& 4 )D-year-old man with chronic lymphocytic leu0aemia (C==" is followed up in clinic& 'e has .ecome increasingly .reathless o#er the last three months .ut has no other symptoms and is on no medication& Fn e<amination% he is pale and has .ilateral cer#ical and inguinal lymphadenopathy and a firm *-cm splenomegaly& B8C shows$'. )&: g7dl WCC 5* J 1ID7mmD platelets 11) J 1ID7mmD urea 1* mmol7l creatinine 5ID mmol7l .iliru.in :H mmol7l& Which in#estigation is most appropriate to demonstrate the li0ely cause of these findings? 4& 8one marrow aspirate 8& 4utoanti.ody profile C& Erythropoietin le#el 3& 4ntiglo.ulin test Correct answer E& Arinary haemosiderin 4naemia in C== has se#eral causes including marrow infiltration% marrow suppression from chemotherapeutic agents% hypersplenism and haemolysis (which is e<tra#ascular and mediated .y 2g9 anti.odies against the erythrocyte mem.rane"& 4 disproportionately low haemoglo.in compared to the platelet count is more li0ely to reflect a red cell pro.lem alone and the raised .iliru.in le#el suggests that haemolysis is occurring% rather than the anaemia .eing due to marrow failure& 4utoimmune haemolysis is demonstrated .y the antiglo.ulin test% either indirectly (patients! serum incu.ated with human red cells and antiglo.ulin anti.odies" or directly (patients! cells and serum incu.ated with antiglo.ulin anti.ody"& 6he haemolysis is e<tra#ascular and so there will .e no increase in urinary haemosiderin& 4 D5-year-old man is seen in the casualty department complaining of .reathlessness% which has gradually worsened o#er the last wee0s following an emergency appendicectomy& 'e recei#ed no .lood products at the time of operation& 'e has not noticed any fran0 .lood loss& Currently% he is ta0ing prn diclofenac for postoperati#e pain relief& 6his man has a past history of recurrent deep #ein throm.oses% the last of which was complicated .y a pulmonary em.olism two years ago& 'e declined long- term anticoagulation& 4 full .lood count shows$'. ,&, g7dl MC1 ,H fl platelets 1I* J 1ID7mmD WCC ?&D J 1ID7mmD and urinalysis shows the presence of haemosiderin& Which in#estigation is most relia.ly diagnostic? 4& 8one marrow trephine 8& 8lood immunophenotyping Correct answer C& Coom.s! test 3& 4cid lysis test E& (erum haptoglo.in 6his young man% with a history of throm.otic e#ents% is li0ely to .e acutely anaemic from his symptomatology and e#idence of intra#ascular haemolysis (haemoglo.in released in the plasma is e<creted in the urine as haemosiderin" with a slightly reduced platelet count& 6his has occurred after an infecti#e and traumatic e#ent% ie the remo#al of an inflamed appendi<% and is a characteristic presentation of paro<ysmal nocturnal haemoglo.inuria (PN'" caused .y a red cell mem.rane defect that renders the cell more lia.le to complement-mediated lysis& (4ffected cells do not e<press 9P2 (glycosylphosphatidylinositol" which anchors the decay-accelerating factor (34B" and mem.rane inhi.itor of reacti#e lysis (M2>="% .oth of which help to degrade complement proteins&" (erum haptoglo.ins are low% .ut this is non-specific for intra#ascular lysis% a .one marrow trephine may show reduced cellularity and the acid lysis% or 'am!s test% which can demonstrate greater complement suscepti.ility% is not always positi#e o#er the course of the disease& 2mmunophenotyping will demonstrate the a.sence of e<pression of the C3 *H antigen (9P2 protein" due to the a.normal red cell clone& 4 significant proportion of patients with PN' goes on to de#elop aplastic anaemia or acute leu0aemia& 4 D*-year-old man attends the haematology clinic ha#ing found a lump in his nec0& 'e feels generally unwell .ut has no past history& 6here is a<illary lymphadenopathy and splenomegaly& B8C shows$WCC 1? J 1ID7mmD '. ,&D g7dl platelets 1I? J 1ID7mmD and the .lood film and .one marrow aspirate show lympho.lasts& What is the most useful test to ma0e a definiti#e diagnosis? 4& Cytogenetic analysis 8& =ymph node .iopsy C& 6otal-.ody computed tomography (C6" scan 3& 6otal-.ody positron-emission tomography (PE6" scan E& 2mmunophenotyping Correct answer 3ifferentiating acute lympho.lastic leu0aemias is most simply achie#ed with immunophenotyping& 8-cell lineage leu0aemias are all C31I- and C31H-positi#e% whereas 6-cell lineage cells are C3)- and 6d6 (terminal deo<ynucleotidyl transferase" -positi#e (although pre-8 cells are 6d6L#e% .ut if more mature 8 cells are present they are 6d6+#e"& Cytogenetic analysis is more useful in differentiating myeloid leu0aemias and in myelodysplastic syndrome& (taging and disease progression can .e monitored radiologically& 4 DI-year-old man gi#es a history of recurrent .ullous eruption on his hands% forearms and trun0 whene#er he is on holiday% and mentions that these lesions de#elop whene#er he #isits sunny places& 'e has numerous scars on his hands% forearms and chest wall& 'e is a fit man and wor0s as an interior decorator& 'e drin0s alcohol in moderation& 'e is single and usually holidays with his friends& What is the diagnosis? 4& (un.urn 8& Porphyria cutanea tarda Correct answer C& Pemphigous 3& Pemphigoid E& Polymorphic light eruption Porphyria cutanea tarda presents with .ullous eruptions on e<posure to sunlight& 6he eruptions heal with scarring& 4lcohol is the aetiological agent& 3iagnosis depends on the presence of increased le#els of urinary uroporphyrin& >emission can .e induced .y #enesection& ChloroGuine promotes the urinary e<cretion of uroporphyrin& 4 **-year-old man has non-infecti#e% necrotising ulcers on his lower lim.s& 4 diagnosis of pyoderma gangrenosum is made& Which of the following conditions is associated with this disorder? 4& Multiple myeloma Correct answer 8& 'aemochromatosis C& 9out 3& Non-'odg0in!s lymphoma E& 4utoimmune throm.ocytopenia Pyoderma gangrenosum start as inflammatory pustules or papules that appear on the lim.s and trun0& 6hey enlarge rapidly to produce large necrotic ulcers with a sloughy .ase% which undermines a raised purplish prominent rim& 2t is associated with multiple myeloma% acute leu0aemia% inflammatory .owel disease% polycythaemia #era and rheumatoid arthritis& No cause can .e found in *I- of patients& 4 5*-year-old pregnant woman complains she has had painful nodules on her shins for o#er 5 wee0s& (he suffers from asthma% which is well controlled and is D5 wee0s! pregnant& E<amination shows painful nodules o#er her shins& What is the most li0ely diagnosis? 4& Erythema multiforme 8& Erythema nodosum Correct answer C& Cellulitis 3& 9ranuloma annulare E& 3rug eruption Erythema nodosum is an acute panniculitis that produces painful nodules or plaGues on the shin& 2t is commonly seen in sarcoidosis% inflammatory .owel diseases% streptococcal infections% tu.erculosis% sulphonamide treatment and may .e seen during pregnancy& 4 **-year-old man complains of nausea% loss of appetite and dyspepsia after meals for the last 5 wee0s& 'e is a smo0er and has a past history of pernicious anaemia& 'e is pale% cache<ic and tender at the epigastrium& 'is s0in is #el#ety and hyperpigmented at the nec0 and a<illary folds& What is the diagnosis? 4& 6ylosis Your answer 8& Pyoderma gangrenosum C& 4canthosis nigricans Correct answer 3& Chloasma E& =entigines 'is clinical features suggest underlying stomach cancer& 4canthosis nigricans is commonly seen in patients with stomach cancer% insulin-resistant dia.etes and o.esity& 2t is characterised .y a #el#ety thic0ening and pigmentation of the ma;or fle<ures& 4 **-year-old woman 0nown to suffer from primary .iliary cirrhosis complains of a rash o#er her wrists and an0les& (he also mentions that purplish lesions de#elop where#er she scratches herself& (he has recently seen her gastroenterologist who has told her to continue ta0ing colestyramine& E<amination shows purplish% polygonal% flat-topped papules on her wrists and an0les& (he also has fine% white lacy papules in her mouth& What is the diagnosis? 4& Pityriasis rosea 8& (ca.ies C& =ichen planus Correct answer 3& 3rug reaction E& Candidiasis =ichen planus is characterised .y an itchy% purplish% polygonal% flat-topped rash de#eloping o#er the wrists and an0les& 4 lacy fine networ0 of papules de#elops in o#er ?I- of the patients& 2t is commonly seen in patients with autoimmune chronic li#er disease such as primary .iliary cirrhosis and chronic acti#e hepatitis& 6he presence of Wic0ham!s striae + a fine% white lacy pattern% o#er the papules helps in diagnosis& 2t usually resol#es in 15+1, months& Patients with widespread disease and intracta.le itch may reGuire oral prednisolone& 4 DI-year-old woman is e#aluated in the endocrinology clinic for increased urine output& (he weighs ?I 0g and has a 5:-hour urine output of D*II ml& 'er .asal urine osmolality is 51I mFsm70g& (he undergoes a fluid depri#ation test and her urine osmolality after fluid depri#ation (loss of weight D 0g" is D*I mFsm70g& 4 su.seGuent in;ection of su.cutaneous 3341P (desmopressin acetate" did not result in a further significant rise of urine osmolality after 5 hours (D** mFsm70g"& Which of the following is the li0ely diagnosis? 4& Normal 8& Primary polydipsia Correct answer C& Fsmotic diuresis 3& Pituitary dia.etes insipidus E& Nephrogenic dia.etes insipidus 3ia.etes insipidus (32" is suspected when the urine output is M *I ml70g per day (5III ml for a ?I-0g female"& 2f the .asal urine osmolality is M DII mFsm70g% it suggests an osmotic diuresis& 2f fluid depri#ation causes a urine osmolality M DII mFsm70g% it suggests psychogenic (primary" polydipsia& 2f not% it is either pituitary or nephrogenic 32& 6hese are differentiated .y the administration of su.cutaneous 3341P which causes an increased urine osmolality M DII mFsm70g in pituitary 32& 4 )*-year-old woman who has had type-5 dia.etes mellitus for the last 1* years is admitted for cataract surgery& (he is ta0ing metformin *II mg .id% plain insulin 1I A at night% ramipril 5&* mg od and .endroflumethiaEide (.endrofluaEide" 5&* mg od& (he is a smo0er& 2n#estigations showed$ 8M D&I mmol7l urea 1I mmol7l creatinine 1:I mmol7l Na 1DI mmol7l N D&) mmol7l& =i#er function tests (=B6s" were normal and arterial .lood gas measurements showed a p' )&D% p(CF5" *&1 0Pa and 'CFD 1) mmol7l& Which one of the following is the most detrimental in these circumstances and should .e stopped? 4& >amipril Your answer 8& Metformin Correct answer C& 2nsulin 3& (mo0ing E& 8endroflumethiaEide (.endrofluaEide" Metformin is a .iguanide used as an oral hypoglycaemic agent& 6he ma;or to<icity of metformin is lactic acidosis& 2t should not .e used in patients with renal insufficiency (creatinine M 1DD mmol7l in males and M 15: m mol7l in females"% any form of acidosis% congesti#e heart failure% li#er disease or se#ere hypo<ia& 4s it is meta.olised in the li#er% it is contraindicated in patients with li#er disease or a high alcohol inta0e&>amipril% an angiotensin-con#erting enEyme inhi.itor (4CE2"% is indicated for the treatment of dia.etic nephropathy with al.uminuria& 2t may potentiate the hypoglycaemic effect of insulin and oral antidia.etic agents% especially during the first few wee0s of use& 2t should .e used under specialist super#ision if the creatinine concentration is M 1*I mmol7l% and renal function and potassium le#els monitored& 6his patient has long-standing dia.etes with nephropathy& 'ypoglycaemia is common with nephropathy and is thought to .e due to the decreased meta.olism of insulin& 3ecreasing renal function can cause meta.olic acidosis% either of which is a contraindication for treatment with metformin&(mo0ing can accelerate dia.etic nephropathy& 8endroflumethiaEide (.endrofluaEide" can .e safely continued& 4 1)-year-old young woman is referred to the endocrine clinic with primary amenorrhoea& (he is of normal height and weight& (he has moderate hirsutism& 4 male cousin was seen in the clinic at the age of , years with precocious pu.erty& What is the most li0ely cause for her primary amenorrhoea? 4& Congenital adrenal hyperplasia Correct answer 8& 'yperprolactinaemia C& Polycystic o#arian syndrome 3& 6urner!s syndrome E& 6esticular feminisation syndrome 6urner!s syndrome (genotype OF" is associated with primary amenorrhoea and short stature& 'yperprolactinaemia and PCF( are more commonly associated with secondary amenorrhoea& 6esticular feminisation causes primary amenorrhoea and is caused .y either a partial or complete androgen-receptor defect& 4ffected patients are genotypically male (OY" .ut phenotypically female& Congenital adrenal hyperplasia is most commonly caused .y 51-hydro<ylase deficiency& (e#ere forms present in infancy with salt-losing crises and females can ha#e am.iguous genitalia& Milder forms cause precocious pu.erty in .oys and #irilism% hirsutism and primary amenorrhoea in girls& 3iagnosis is .y finding raised serum 1)-hydro<yprogesterone le#els that show a hyperresponsi#eness to 4C6'& 6reatment is with glucocorticoids& 4 D*-year-old '21-positi#e man% e#aluated for weight loss and wea0ness has .een found to ha#e disseminated tu.erculosis& Fn e<amination% he is hypotensi#e and has hyperpigmentation of the mucosa% el.ows and s0in creases& Burther in#estigations confirm a diagnosis of 4ddison!s disease& Which of the following is li0ely in this condition? 4& 2ncreased serum Na 8& 2ncreased serum Cl C& 2ncreased serum 'CFD 3& 2ncreased serum N Correct answer E& 3ecreased serum Ca 2n adrenal destruction% serum Na% Cl and 'CFD le#els are reduced% and serum potassium is ele#ated& 6he hyponatraemia is due to .oth loss of sodium in the urine (due to aldosterone deficiency" and to mo#ement into the intracellular compartment& 'yper0alaemia is due to a com.ination of aldosterone deficiency% impaired glomerular filtration (due to hypotension" and acidosis& Mild to moderate hypercalcaemia occurs in 1I+5I- patients% the cause of which is uncertain& 4 *?-year-old man with polycythaemia #era is admitted with acute a.dominal pain% nausea% #omiting and a.dominal distension& 'e is apyre<ial with tender hepatomegaly and ascites an ascitic tap re#eals a high protein content and no organisms& What is the most li0ely diagnosis? 4& (pontaneous .acterial peritonitis 8& 8udd+Chiari syndrome Correct answer C& 1eno-occlusi#e disease 3& Malignant li#er disease E& 'aemochromatosis 8udd+Chiari syndrome occurs following o.struction to the #enous outflow of the li#er due to occlusion of the hepatic #ein& 2n one-third of the patients the cause is un0nown& Patients with hypercoagula.le states% such as polycythaemia #era or leu0aemia% and women on the contracepti#e pill are at ris0& 6he acute form presents with a.dominal pain% nausea% #omiting% tender hepatomegaly and ascites& =i#er histology shows centrilo.ular congestion with hepatocyte atrophy& 6he chronic form presents with hepatomegaly% mild ;aundice% ascites and splenomegaly with portal hypertension& 4 :)-year-old dia.etic man is referred from the infertility clinic& 'e has occasional palpitations and ta0es diuretics for dyspnoea& 'e is tanned% has hepatomegaly and a normal full .lood count and li#er .iochemistry& What is the most appropriate in#estigation? 4& M>2 of the li#er 8& (erum alpha-fetoprotein le#el C& =i#er .iopsy 3& Cardiac echocardiography E& (erum iron studies Correct answer 6he com.ination of dia.etes mellitus% pro.a.le hypogonadism% hepatomegaly and s0in pigmentation suggests haemachromatosis& 6his is an autosomal-recessi#e disorder and is more commonly seen in middle-aged men& E<cess iron is deposited in the endocrine glands% heart and s0in& 9onadal function is impaired& Patients de#elop arrhythmias and heart failure& (erum iron and serum ferritin le#els are raised& 6he total iron-.inding capacity is reduced and transferrin saturation is complete (M?I-"& Patients may de#elop cirrhosis and DI- of patients who de#elop cirrhosis can de#elop hepatocellular carcinoma& 4 :I-year-old man presents with a swollen erythematous finger and right a<illary tenderness% 5: hours after .eing .itten .y his pet dog& What is the .est treatment? 4& MetronidaEole 8& 4ciclo#ir C& BluconaEole 3& Bluclo<acillin E& 4mo<icla#ulanate Correct answer 3og .ites .ecome infected in 1I- of cases& 6he commonest organisms are anaero.ic mouth flora and Pasteurella multocida& Fther organisms include Capnocytophaga spp and (treptococcus pyogenes& 4mo<icla#ulanate (co-amo<icla#$ a mi<ture of amo<icillin and cla#ulinic acid" is appropriate as it is effecti#e against all the most li0ely organisms& 'erpes simple< infection is most unusual in cases of dog .ites% though mon0ey .ites often transmit this #irus& 4lthough dogs har.our fungal infections including 8lastomyces% Microsporidium and 6richosporon spp% these are dermatophytes and only produce superficial s0in rashes% and therefore the antifungal agent% fluconaEole% is not indicated in this patient& Bluclo<acillin is not acti#e against anaero.ic .acteria& MetronidaEole% a good anti.iotic against anaero.ic .acteria% does not co#er aero.ic 9ram-negati#e organisms& 4 :I-year-old woman presents with progressi#e confusion and mild nec0 stiffness& 4 C6 scan showed .asal meningeal enhancement& 4 lum.ar puncture showed an opening pressure of 5II mm'5F% a tur.id C(B with *II leucocytes7ml (HI- lymphocytes"% a glucose concentration of 1 mmol7l and negati#e results with 9ram% 2ndian in0 and /iehl+Neelsen stains& What is the .est treatment? 4& >ifampicin L 2N4' L pyraEinamide L etham.utol Correct answer 8& Ceftria<one C& 4ciclo#ir 3& Corticosteroids E& =iposomal amphotericin 8 >ifampicin L 2N4' (isonicotinic acid hydraEide" L pyraEinamide L etham.utol are used to treat tu.erculous meningitis (68M"% which is the most li0ely diagnosis .ased on the su.acute history% C6 findings and the modest lymphocytic lymphocytosis accompanied .y se#ere hypoglycorrhacia& 4 negati#e /iehl+Neelsen stain is not unusual in such cases% e<cept when large #olumes of spun C(B are e<amined& 4lmost without e<ception% patients with .acterial meningitis ha#e a high neutrophil pleocytosis and a few days! history at presentation& 4pparently% the patient had not .een recei#ing anti.iotics% which can modify the C(B in those with .acterial meningitis& 1iral meningitis is unli0ely since the cell type is mononuclear and the sugar concentration normal (e<cept in patients with mumps meningitis"& 6here is no reason to suspect fungal meningitis as she has no immunocompromising conditions% although the C(B changes may .e indistinguisha.le from 68M& 'owe#er% cryptococcal meningitis occasionally presents in a normal host% .ut here the 2ndian- in0 stain is usually positi#e& 6here is no e#idence that the patient has .enign intracranial hypertension or collagen #ascular disease% so steroids are not indicated and are contraindicated for the treatment of infectious meningitis alone& 8acterial meningitis is treated with ceftria<one% #iral meningitis with aciclo#ir and fungal meningitis with liposomal amphotericin 8& 4 1)-year-old% non-pregnant% asymptomatic woman with no past medical history is found to ha#e 1I? colony-forming units of Escherichia coli7ml urine on a routine health-chec0& What is the most appropriate management? 4& 6reat with oral co-trimo<aEole for 1I days 8& 6reat with a single dose of oral trimethroprim C& 2n#estigate her renal tract 3& 6reat with an intra#enous anti.iotic E& No anti.iotics are indicated Correct answer 6his young female has asymptomatic .ut significant .acteruria& 6his is common (appro<imately D- of non-pregnant females" and does not reGuire treatment as there is no ris0 of mor.idity or mortality& 2n fact% treatment of asymptomatic .acteruria in a young person may increase the freGuency of symptomatic infections& 'owe#er% treatment is reGuired if there are co-mor.id factors + eg dia.etes% renal transplantation% in#asi#e 9A in#estigations or a renal stone& Pregnancy is an a.solute indication to treat asymptomatic .acteruria .ecause of the increased ris0 of pyelonephritis (DI-"% pre-eclampsia% prematurity and perinatal death& 2n pregnant patients% a single dose of trimethroprim is as effecti#e as the other anti.iotic options mentioned in the Guestion& 4 single finding of asymptomatic .acteruria is not an indication for renal tract in#estigation& 4 1H-year-old woman presents with fe#er% rash and cough% and is pyre<ial% tachycardic and tachypnoeic& (he has a florid erythematous rash on her face% trun0 and arms% with scattered whitish papular lesions on the .uccal mucosa& What is the most li0ely diagnosis? 4& Meningococcaemia 8& >u.ella C& Par#o#irus 81H 3& (econdary syphilis E& Measles Correct answer 4dult measles is unusual e<cept in non-immunised persons& 6he description of this patient!s rash is classical$ the rash is maculopapular% starts on the face and migrates caudally Nopli0!s spots are present in the mouth& 2n contrast% meningococcaemia is a petechial7purpuric macular rash with no .uccal lesions% and there is no typical migratory pattern& >u.ella is possi.le% .ut the lesions are smaller and not intense or dar0ly coloured$ they can also spread caudally .ut there is no desGuamation& Par#o#irus infection produces the typical raised erythema on the chee0s (Cslapped chee0!" and usually occurs in young children$ .iEarre #ariations in the rash are sometimes seen& 6he rash of secondary syphilis usually affects the upper trun0% palms and soles and fle<ural e<tremities& Mucosal lesions are usually erythematous and coalesce (Csnail trac0! ulcers"& 4 1H-year-old woman presents with a se#ere sore throat% fe#er and malaise& (he has mar0ed cer#ical lymphadenopathy% gross splenomegaly and scattered petechiae on the soft palate% with enlarged tonsils co#ered .y a confluent white e<udate& 'er white cell count is mildly ele#ated% her serum 4=6 and 4(6 concentrations are twice normal and her al0aline phosphatase concentration is slightly ele#ated& Which one of the following in#estigations is most li0ely to help guide your management? 4& Bine-needle aspiration of a lymph node 8& 'epatitis-8 surface antigen C& Cytomegalo#irus 2gM 3& 'eterophilic anti.odies Correct answer E& '21 test 6he history is strongly suggesti#e of infectious mononucleosis% which can .e confirmed .y a heterophilic anti.ody test (Monospot"& 4round ,I- of patients at this stage of the illness will ha#e a positi#e test& 'owe#er% if the Monospot test is negati#e% it should .e repeated a few days later& (pecific serological tests to detect the presence of Epstein+8arr #irus should .e reGuested if it is still negati#e and there is a high clinical suspicion of glandular fe#er& 2f the E81 tests are negati#e then other causes for heterophilic-negati#e acute mononucleosis + including '21% CM1 and to<oplasmosis + should .e considered& 6he =B6s are not sufficiently ele#ated in this patient for acute #iral hepatitis& Fther features of a systemic #iral infection are present and therefore there is no indication for reGuesting lymph node aspiration& Clearly% the management of this patient depends on a correct diagnosis& 6he most freGuent misdiagnosis is of .acterial tonsillitis and anti.iotic treatment gi#en to someone with glandular fe#er might result in a se#ere drug reaction& Confirmation of glandular fe#er would suggest the need for corticosteroid management of this patient who is to<ic and has profound throm.ocytopenia& 2t would .e unusual for the acute '21 retro#iral syndrome to present with mar0ed e<udati#e tonsillitis and splenomegaly% although a reported se<ual history negati#e for ris0 factors does not e<clude '21 infection& 4 1?-year-old man presents with difficulty in wal0ing and foot drop& 6here is wea0ness of dorsifle<ion and e#ersion of the right foot% with a small area of sensory loss o#er the dorsum of that foot& What is the most li0ely diagnosis? 4& Posterior ti.ial ner#e lesion 8& (ciatic ner#e lesion C& =* root lesion 3& Common peroneal ner#e lesion Correct answer E& 3eep peroneal ner#e lesion 6he common peroneal (=*% (1" ner#e arises from the di#ision of the sciatic ner#e in the popliteal fossa& 2t passes close to the head of the fi.ula and can .e damaged .y pressure in this area& 2t di#ides into a superficial and a deep .ranch& 6he deep peroneal ner#e supplies the ti.ialis anterior% e<tensor hallucis longus and e<tensor digitorum longus muscles% which dorsifle< the foot and toes& 6he superficial ner#e supplies the peroneus longus and .re#is muscles% which e#ert the foot& 3amage to the posterior ti.ial ner#e produces wea0ness of planter fle<ion and in#ersion of the foot& 4 5*-year-old o.ese woman presents with headaches and #omiting& 4 C6 of her head is normal& 4 lum.ar puncture is performed and shows an opening pressure of DI cm& What is the most li0ely a.normality seen on e<amination of the #isual fields? 4& =eft homonymous hemianopia 8& >ight homonymous hemianopia C& Central #isual field defect 3& Enlarged .lind spot Correct answer E& 4ltitudinal field defect 6his woman will ha#e an enlarged .lind spot& 6he clinical description is of .enign intracranial hypertension% which typically presents in young o.ese women with symptoms of raised intracranial pressure and significant papilloedema& 2nitially% #isual acuity is preser#ed .ut the .lind spot is usually enlarged& 2f the raised intracranial pressure is allowed to continue there will .e progressi#e #isual loss and the appearance of optic atrophy& 4 D)-year-old woman presents with a one-year history of increasing deafness and tinnitus in her right ear& 'er right corneal refle< is a.sent% there is hearing loss in her right ear with air conduction greater than .one conduction% and We.er!s test lateralises to the left& What is the most li0ely diagnosis? 4& 4coustic neuroma Correct answer 8& 8asilar artery aneurysm C& Multiple sclerosis 3& Meningioma E& MPniQre!s disease 6he e<amination findings descri.e sensorineural deafness and loss of the corneal refle< on the right& 6hese fit #ery well with the early symptoms of an acoustic neuroma& 6his is a .enign% slowly growing tumour that arises from the 1222th cranial ner#e in the cere.ellopontine angle& 2t usually presents in middle age and is most common in women& 4s the tumour enlarges it may in#ol#e the facial% a.ducens and .ul.ar cranial ner#es& 2n addition% during the late stages it may compress the .rainstem (causing hydrocephalus" or the cere.ellum (causing ata<ia and nystagmus"& Fptions 8% C and 3 might present with similar symptoms .ut it is li0ely there would .e greater neurological impairment with more widespread signs& MPniQre!s disease is a common disorder causing recurrent episodes of se#ere #ertigo associated with sensorineural deafness and tinnitus& 2t does not cause loss of the corneal refle<& 4 teacher presents with a two-wee0 history of increasing malaise% tingling in her hands and feet and difficulty in wal0ing& 6here is symmetrical distal wea0ness that is worse in her legs% a.sent lower lim. refle<es% reduced sensation to pinpric0 and light touch to the 0nee .ilaterally& =um.ar puncture shows an acellular C(B with a raised protein le#el& Which of the following factors confers the worst prognosis for this illness? 4& Bemale se< 8& 9radual onset C& Pre#ious history of diarrhoeal illness Correct answer 3& =e#el of protein greater than 1&* g7l in C(B E& 4ge less than :I years 6he clinical history gi#en a.o#e is of 9uillain+8arrP syndrome (98("& 6his is the commonest su.acute neuropathy% ha#ing an incidence of 1&*+5 per 1II III population per year& 6here is a slow reco#ery o#er wee0s or months in ,I- of cases& 'owe#er% 5I- of patients will suffer permanent disa.ility and *- will die& Poor prognostic factors in 98( include$ age M :I years gradual onset reGuirement for #entilatory support pre#ious history of diarrhoeal illness (specifically Campylo.acter spp&" and a high anti-9M1 anti.ody titre& 4 DI-year-old man% under in#estigation for a.dominal cramps and passing .lood rectally% presents with an acutely painful% red and photopho.ic eye& What is the most li0ely sign on ocular e<amination? 4& Con;uncti#al purulent discharge 8& White corneal stromal infiltrate C& Mydriasis of the affected eye 3& 'ypopyon Correct answer E& (wollen optic disc Passing .lood rectally is a symptom of inflammatory .owel disease& 6here are many causes of a red eye% .ut in this conte<t% iritis (anterior u#eitis" should .e suspected& 4 cardinal sign of iritis is the presence of inflammatory cells in the anterior cham.er of the eye% #isi.le with a slit lamp& 2n se#ere cases of iritis% the degree of inflammation in the anterior cham.er is enough to cause settling of inflammatory cells inferiorly to form a le#el$ a hypopyon& While a hypopyon usually implies infecti#e endophthalmitis (eg following cataract surgery"% a sterile hypopyon can occur in cases of se#ere iritis (eg 8ehRet!s disease"& 8acterial con;uncti#itis causes purulent discharge .ut is less li0ely to cause se#ere pain and photopho.ia& Micro.ial 0eratitis% causing a white corneal infiltrate% is more li0ely if there is a history of contact lens wear or trauma% such as a corneal a.rasion or a corneal foreign .ody& 2ritis often causes pupillary miosis% and while acute angle closure% an ophthalmological emergency% causes mydriasis in a red painful eye% it is less li0ely in a patient as young as DI& Cere.ral metastases from colorectal carcinoma may cause raised intracranial pressure and papilloedema% .ut this is unli0ely in a young patient% and would not cause con;uncti#al in;ection (ie a red eye"& 4 )I-year-old man presents with a gradually worsening% droopy% right upper eyelid& 6here is a right ptosis and anisocoria% greater when the room lights are off than in light conditions& Which of the following is the .est in#estigation? 4& 4nti-acetylcholine receptor anti.odies 8& 8lood glucose C& Chest O-ray Correct answer 3& 3ilute pilocarpine eye-drop test E& 2ntraocular pressure 6he signs are consistent with a right 'orner!s syndrome& 4nisocoria (difference in pupil siEe" that is greater in the dar0 implies interruption of the sympathetic supply to the pupil& 'orner!s syndrome has se#eral causes% including Pancoast!s tumour of the lung& 4 222rd ner#e palsy would cause ptosis and an anisocoria& Fld age% smo0ing% ele#ated .lood pressure and dia.etes are all ris0 factors for micro#ascular ischaemia that can cause a cranial mononeuropathy& 'owe#er% the anisocoria would .e greater in the light% as parasympathetic input is affected& Burthermore% in a 222rd ner#e palsy% the eye is li0ely to .e de#iated in the Cdown and out! position& Myasthenia gra#is causes a #aria.le .ilateral ptosis that does not affect the pupil& 3iluted pilocarpine drops (I&1-" can .e used to diagnose a 'olmes+4die pupil& 6hese drops will not constrict a normal pupil% .ut will constrict a 'olmes+4die pupil due to dener#ation sensiti#ity& Ele#ated intraocular pressure in an acute angle closure glaucoma causes pupillary dilatation in a red painful eye% and ptosis does not occur% although pain in the eye may cause intermittent .lepharospasm& 4n optician refers a 5I-year-old asymptomatic man with .ilateral retinal lesions& 6here are se#en o#al% pigmented% flat-loo0ing areas% each appro<imately the siEe of the optic disc and each with a white fishtail% in each retina& What is the most appropriate in#estigation? 4& Colonoscopy Correct answer 8& Bluorescein angiography C& 9enetic counselling for retinitis pigmentosa 3& 8lood glucose E& 6o<oplasmosis anti.ody le#els 6he retinal lesions are C'>PE (congenital hypertrophy of the retinal pigment epithelium"& 6hese can .e Ctypical! or Catypical!& 6ypical C'>PE are grey or .lac0% with depigmented lacunas% and are found in one Guadrant of one eye& 6hey do not affect #ision& 4typical C'>PE ha#e a white fishtail% and are .ilateral& 6hey do not affect #ision% .ut if there are more than four atypical C'>PE in each eye then familial adenosis polyposis or 9ardner!s syndrome may .e suspected as an association& Colonoscopy and e<amination of all family mem.ers would therefore .e appropriate& Bluorescein angiography will add nothing in terms of a diagnosis& >etinitis pigmentosa causes C.one spicule! pigmentation in the retinal mid-periphery% along with a wa<y disc pallor and retinal arteriolar attenuation& Patients with retinitis pigmentosa often suffer from night .lindness and restricted peripheral #ision (Ctunnel #ision! when the disease is ad#anced"& Metastases to the choroid can appear as large dar0 lesions under the retina% often with o#erlying e<udati#e (as opposed to rhegmatogeneous" retinal detachment& Potential sources of primary lesions include the gastrointestinal tract% .reasts% 0idneys% testes and prostate& 'owe#er% the appearance does not sound typical of a metastasis to the choroid& 3iscrete pigmented spots in the retina% often with pale rims of atrophy% could .e due to either pre#ious laser treatment (in a dia.etic patient with signs of retinopathy and a history of new .lood #essel formation% for e<ample" or scars from pre#ious to<oplasmosis infections& Congenital or old to<oplasmosis lesions can reacti#ate in adulthood% appearing as pigmented retinal lesions with a white fluffy edge% often o.scured on e<amination .y #itreous inflammatory de.ris (#itritis" hence the descripti#e term for the appearance of acti#e to<oplasmosis% Ca headlight in the fog!& Fld inacti#e lesions reGuire no treatment& 4 :I-year-old woman with rheumatoid arthritis ta0es oral steroids& (he presents with watering of .oth eyes associated with intermittent .lurred #ision when using a computer& What is the most li0ely diagnosis? 4& Cataract 8& 3ia.etic retinopathy C& 3ry eyes Correct answer 3& 9laucoma E& 6ransient ischaemic attac0 (ystemic or topical steroid treatment can cause ocular side-effects& (teroid use is a cause of cataracts in young or middle-aged patients& 4 Csteroid cataract! is typically posterior su.capsular in appearance% and causes constant and gradually progressi#e .lur& (teroids can raise .lood glucose le#els& Bluctuating .lood sugar le#els can cause osmotic swelling of the lens in the eye% resulting in fluctuations in #ision& 'owe#er% dia.etic retinopathy will not affect #ision unless maculopathy occurs (oedematous% e<udati#e% ischaemic or mi<ed" or #itreous haemorrhage occurs& Fccasionally% topical or systemic steroid use results in raised intraocular pressure% with su.seGuent progressi#e damage to the optic ner#e and peripheral #ision (secondary open angle glaucoma"& 'owe#er% any #isual symptoms due to peripheral #isual field loss would not .e intermittent& (6he rise in intraocular pressure usually re#erses when steroid treatment is stopped& 4ny damage to the optic ner#e and #isual field% howe#er% would not .e re#ersi.le"& >heumatoid arthritis is associated with dry eyes& 6ear-film integrity on the corneal surface is reGuired .oth for comfort and to pro#ide an optically smooth surface for refraction& 6herefore in dry eye% when the tear film cannot pro#ide adeGuate wetting of the corneal surface .etween .lin0s% grittiness and intermittent .lur occurs& 4 refle< response to irritation of the corneal surface is epiphora% or watering& (ymptoms will .e worse when tear-film e#aporation is greater% for e<ample in windy or in warm dry (air-conditioned air" en#ironments% or when the .lin0 rate declines as is li0ely when concentrating on computer wor0& 4 5I-year-old woman presents with gradually reducing #ision in her left eye of two wee0s! duration& 1isual acuity is ?7: (right eye" and ?7D? (left eye"& 6he left pupil reacts sluggishly and the consensual pupillary reaction in the right eye is also sluggish& Fptic discs are normal& What is the most li0ely diagnosis? 4& Cere.ral tumour 8& 'olmes+4die pupil C& Bactitious #isual loss 3& Parinaud!s syndrome E& >etro.ul.ar neuritis Correct answer 4s the optic discs appear normal% and gi#en the transient nature of her pre#ious symptoms occurring during e<ams% it may .e tempting to pass off the alleged .lurring as factitious& 'owe#er% in retro.ul.ar neuritis it is said that Cthe patient sees nothing and the doctor sees nothing!& 4s the inflammation is .ehind the optic ner#e head (hence retro.ul.ar"% as opposed to optic neuritis% the optic ner#e head or optic disc appears normal& Fptic ner#e function% howe#er% is affected in the same way in patients with optic and retro.ul.ar neuritis& 6hus #isual acuity will .e reduced to a #ery #aria.le degree% and an afferent pupillary defect will .e apparent during the Cswinging flashlight test!& Colour #ision will .e reduced to a greater e<tent than might .e predicted from #isual acuity& >ed desaturation + ie when red loo0s paler to one eye than the other + is a sensiti#e sign of optic ner#e dysfunction& 1isual field defects will occur (typically a central scotoma% .ut the type of defect #aries"& >etro.ul.ar neuritis has the same systemic implications as optic neuritis% in that an episode of optic or retro.ul.ar neuritis can contri.ute to a diagnosis of multiple sclerosis% if other neurological episodes separated in time and site occur& 'olmes+4die pupil is an idiopathic condition% typically affecting young women% presenting with an enlarged pupil that is poorly reacti#e to light and accommodation& 4.sent an0le ;er0s are a freGuent association& 4 'olmes+4die pupil causes no harm% e<cept .lurring #ision when reading in some patients& Parinaud!s syndrome is due to a lesion in the dorsal mid-.rain% and causes a #ariety of signs% including mid-dilated pupils% upper lid retraction and paralysis of upward gaEe& 4n ,D-year-old man is undergoing cogniti#e assessment in a psychogeriatric clinic& 'e was referred .ecause of a change in his .eha#iour% and his wife has noticed a few aggressi#e out.ursts o#er the past months& 'is Mini-Mental test score is 1,& Which patterns of cogniti#e deficit would fa#our a dementia of su.cortical origin? 4& Poor #isuospatial performance 8& Preser#ed #er.al fluency C& (e#ere memory distur.ance 3& Constructional apra<ia E& >educed #er.al output Correct answer 6he distinction .etween cortical and su.cortical dementia is not a.solute .ut is clinically useful& (u.cortical dementia is due to disruption in the frontostriatal connections and so results in early frontal lo.e pro.lems such as planning difficulties% poor #er.al fluency and tas0 switching& 6ypically% the Ccortical! functions of correct word use and comple< motor tas0s (pra<is" are preser#ed& 8asal ganglia in#ol#ement results in Cpsychomotor! slowing with reduced #er.al output% slowed rate of response and reduced alertness& 1isuospatial performance can .e poor in .oth cortical and su.cortical dementia so it is less helpful for use in trying to differentiate them& (e#ere memory distur.ance is more often seen in cortical dementia& Common causes of su.cortical dementia include par0insonism% #ascular dementia and multiple sclerosis rarer causes include normal-pressure hydrocephalus% 'untingdon!s disease and Wilson!s disease& 4 *D-year-old man is admitted for in#estigation of his confusion& 'e is intermittently coherent and aggressi#e and says the people in the flat ne<t door to him are plotting to 0ill him& 'e denies auditory hallucinations .ut admits to seeing animals run across the floor& Fn e<amination% he is agitated and sweating .ut afe.rile% there is no meningism and he has normal fundi& Pulse is HI .pm and 8P 1)I7H*& >outine in#estigations show$'. 1I g7dl MC1 HH fl WCC : J 1ID7mmD platelets 1II J 1ID7mmD Na 1DI mmol7l N D mmol7l urea 5&, mmol7l creatinine 11H mmol7l& What is the most li0ely diagnosis? 4& Neuropsychiatric complication of #itamin 815 deficiency 8& 'yponatraemic encephalopathy C& 4cute presentation of schiEophrenia 3& 8acterial meningitis E& 3elirium tremens Correct answer 3elirium tremens carries a significant mortality of 1I- and must .e urgently diagnosed and treated& 2ts core features are delirium% hallucinations (generally #isual% .ut occasionally in other senses" and tremor& Fther recognised features include paranoid delusions and autonomic distur.ance (sweating% hypertension% tachycardia and fe#er"& 6he haematological indices% which are consistent with chronic alcohol use and withdrawal symptoms% can progress to fran0 delirium tremens and usually .egin within :, hours of cessation of drin0ing& 4lthough #itamin 815 deficiency can produce a raised MC1 and a low platelet count% confusion is rare and not as closely associated with hallucinations and delusions& 4 diagnosis of schiEophrenia reGuires symptoms to .e present for at least one month& 'allucinations are typically auditory% although ?I- of people with schiEophrenia e<hi.it paranoid delusions& 6he Na #alue is low .ut typically not low enough to cause cogniti#e dysfunction% and it rarely causes formed delusions& 4 )D-year-old man with ad#anced Par0inson!s disease is .eing treated on the ward for a urinary tract infection& 'is regular medication includes co-careldopa% entacapone% ca.ergoline% and prn su.cutaneous apomorphine in;ections& 'is wife tells you that for the last month his .eha#iour has changed and he has .ecome agitated% disinhi.ited and he 0eeps as0ing her for money& 'is dys0inesia has also .ecome more pronounced o#er this period& Fn e<amination% he is distracta.le& 'e denies ha#ing hallucinations and% after pro.ing Guestioning% you can find no e#idence of delusional thought& Mood assessment shows him to .e cheerful and there are no cogniti#e or .iological features of depression& What is the li0ely physiological cause of the .eha#ioural change? 4& >educed .rea0down of dopamine 8& Change in sensiti#ity to dopamine C& Confusional state due to urosepsis 3& 3irect dopamine agonism Correct answer E& Coe<isting dementia Neuropsychiatric complications of Par0inson!s disease (P3" are common + e<perienced .y some )I- of all patients& 'edonistic dysregulation is .eing increasingly recognised here patients typically ta0e increasing amounts of a dopamine agonist e#en though it worsens their dys0inesia (usually apomorphine is a.used in this way"& 6his results in euphoria% hyperse<uality and gam.ling& 6here is an e<tensi#e .ody of research literature on dopamine reward pathways (from the #entral tegmental area to the nucleus accum.ens" as the mediator of moti#ation and possi.ly drug addiction& 6he commonest psychiatric complication% howe#er% is depression (*I-% associated with a younger onset% female gender"% an<iety (:I-"% psychosis (:I-% #isual hallucinations and persecutory delusions% often drug related" and dementia (5I+:I- associated with an older onset P3% se#ere e<trapyramidal features"& 4 5:-year-old man is admitted to the psychiatric ward from home% where he li#es alone& 'is neigh.ours ha#e .een increasingly concerned a.out ru..ish piling up inside his flat and sometimes he isn!t seen for days& 'is family tell you that o#er the last year he has .ecome #ery odd and isolated& Fn e<amination% he is withdrawn and Guiet and you find it difficult to understand his answers as he freGuently wanders off the point% as if he is answering a different Guestion& 4lthough spontaneous mo#ements are reduced% there are no neurological signs and he is not on any medication% prescri.ed or illicit& 'is mother and two older .rothers ha#e .oth had episodes of ma;or depression& 4re there any features that suggest a fa#oura.le outcome from this episode? 4& Young age 8& 2nsidious onset C& No fa#oura.le features 3& @uiet speech E& Bamily history of depression Correct answer 6his man has schiEophrenia with mainly Cnegati#e! symptomatology% ie asocial% reduced spontaneous mo#ements% li0ely disorganised .eha#iour gi#en the state of his flat and his speech is disorganised reflecting an underlying formal thought disorder& 6he Cpositi#e! symptoms of delusions and hallucinations are a.sent& 6he following are recognised features that predict a poor outcome + young age% insidious onset% poor premor.id social function% negati#e symptomatology% neurological signs% no recognised precipitating factor% family history of schiEophrenia& 4 good outcome is associated with older age% acute onset% recognisa.le precipitant% good premor.id social function% .eing married% prominent mood disorder% family history of mood disorder% positi#e symptomatology& 6he o#erall pre#alence of schiEophrenia is 1- in all populations& 8etween 1I and 5I- of patients will ma0e a full reco#ery from one episode& You are ta0ing a history from a 1H-year-old man& 'e says he has trou.le sleeping at night .ecause he is concerned a.out a.using his special powers& 'e says he is a.le to read other people!s thoughts and sometimes feels a.le to control their hand mo#ements& 'e 0nows this to .e true .ecause a passage in the 8i.le can .e translated with a special code and the translation dictates his powers& 'e also says he hears #oices tal0ing a.out him& 'ow is his delusion .est categorised? 4& 3elusion of control 8& Paranoid delusion C& 3elusion of reference Correct answer 3& 3elusion of replacement E& 3elusion of guilt 4 delusion is a false .elief that someone refuses to ac0nowledge as false despite e#idence% and typically they change their other .eliefs to 0eep their whole .elief system consistent& 4 delusion of reference descri.es the .elief that a special meaning for that indi#idual lies .ehind something Cinnocent! in the pu.lic domain% such as a .oo0761 programme7newspaper or from the way o.;ects are arranged in a room or how cars are par0ed in a street& 3elusions of control consist of .eliefs that patients themsel#es are .eing controlled .y an e<ternal force% typically citing electricity or radio wa#es as the mediator& Paranoid delusions usually consist of people or organisations (such as M2*" plotting to 0ill% spy on% or harass the patient while delusions of replacement occur when people in a patient!s life (eg their partner or close relati#e" ha#e .een replaced .y an impostor who loo0s and tal0s e<actly li0e that person& 4 *?-year-old woman% who is 0nown to suffer from rheumatoid arthritis% complains she has had recurrent haemoptysis for o#er * years& (he has ne#er smo0ed and only ta0es a non-steroidal anti-inflammatory agent& 4ccording to her% she coughs up phlegm e#ery day and at times this contains strea0s of fresh .lood& (he has no 0nown respiratory disease% .ut tends to get freGuent chest infections that are relie#ed .y a course of anti.iotics& What is the most li0ely diagnosis? 4& =ung cancer 8& 8ronchiectasis Correct answer C& 6u.erculosis 3& Pulmonary em.olism E& 4typical pneumonia (ome D+:- of patients with rheumatoid arthritis de#elop .ronchiectasis& 6his is characterised .y recurrent haemoptysis& 6he history of e<pectorating phlegm on most days and freGuent chest infections are suggesti#e of the diagnosis& 4 high-resolution computed tomography (C6" scan of her lungs will esta.lish the diagnosis& 4 5D-year-old army cadet is admitted to hospital with cough% headaches and malaise& 'e has a temperature of D, SC& 'is .lood count% renal and li#er functions are normal& Cold agglutinins are positi#e& 4 chest O-ray shows .i-.asal shadowing& What is the most li0ely diagnosis? 4& =egionella pneumonia 8& 1iral pneumonia C& @ fe#er 3& Nle.siella pneumonia E& Mycoplasma pneumonia Correct answer Mycoplasma pneumonia is a common cause of pneumonia often occurring in young people& 2t is characterised .y headaches% malaise and cough& Chest O-ray findings may not correlate with the patient!s condition& 6he white .lood count may .e normal and cold agglutinins occur in half of the patients& E<trapulmonary complications are pericarditis% myocarditis% erythema multiforme% #omiting% diarrhoea and meningoencephalitis& 4 D*-year-old woman complains of a painful rash on her legs& (he also gi#es a three- month history of dyspnoea on e<ertion& 'er doctor arranged for her to ha#e a chest O- ray and this shows .ilateral hilar prominence& E<amination of her legs re#eals a purplish-red% maculopapular tender rash on her shins& 4part from few .i-.asal crepitations on auscultation% systemic e<amination is normal& 4 pulmonary function test shows a mildly impaired 3=CF& Which one of the following is the .est in#estigation? 4& 8ronchoscopy 8& 'igh-resolution C6 scan of the thora< Correct answer C& Fpen lung .iopsy 3& N#eim test E& (erum 4CE le#el 6his woman has erythema nodosum and .ilateral hilar lymphadenopathy& (he has sarcoidosis (=Tffgren!s syndrome"& 6his has a good prognosis& 'owe#er% the diagnosis is clinical as she has dyspnoea and impaired diffusion in the lung of car.on mono<ide (3=CF"% a high-resolution lung scan will esta.lish the diagnosis& 4 ?:-year-old woman is referred to the medical team from the orthopaedic ward& (he underwent a right total-hip replacement si< days ago& (he is 0nown to suffer from mild CF43 and is on regular inhaled steroids and a short-acting U5-agonist& (he now complains of left-sided chest pain and is also dyspnoeic& Your clinical diagnosis is pulmonary em.olism (PE"& Which one of the following is not a feature of PE? 4& 3yspnoea 8& 6achypnoea C& New-onset atrial fi.rillation 3& Be#er E& 8radycardia Correct answer 8radycardia is not a feature of PE& 6achypnoea (respiratory rate M 5I7min" is the commonest feature occurring in ,*- of patients& Be#er is a freGuent finding (D:- *I-"& 6achycardia occurs in DI- of patients& 4trial flutter% fi.rillation and premature .eats are 0nown to occur in patients with PE& 4 :?-year-old woman is admitted to hospital with a left .asal% community-acGuired pneumonia& (he is on the appropriate anti.iotics& (he is still pyre<ial four days after admission and a chest O-ray confirms a left pleural effusion& 6he house officer has performed a diagnostic tap& Which of the following is an indication to insert a chest drain? 4& Pleural fluid protein le#el more than *I- of serum protein le#el 8& Pleural fluid =3' more than ?I- of serum =3' C& 'aemorrhagic pleural fluid 3& Pleural fluid p' V )&5 Correct answer E& Pleural fluid glucose V 1&? mmol7l 6his woman has a parapneumonic effusion& 6he indications for chest tu.e insertion in patients with infected pleural effusions are$ presence of organisms on a 9ram stain of the pleural fluid% a fran0ly purulent pleural fluid% pleural p' V )&5 in the setting of an infected pleural effusion% loculated pleural effusions and poor clinical progress despite anti.iotic treatment& 4 *,-year-old woman is admitted to hospital with a history of general muscle wea0ness of 15 months! duration& (he also gi#es a history of pain in the small ;oints of her hand of o#er 1, months! duration& 2n addition% there is a history of difficulty in swallowing& E<amination is normal e<cept for tenderness of her upper arms and swelling of the small ;oints of her hands& 'er E(> is ?I mm in one hour% her haemoglo.in is H&* g7dl% and mean corpuscular #olume (MC1" and mean cell haemoglo.in concentration (MC'C" are normal& (erum antinuclear anti.odies and rheumatoid factor are positi#e& What is the most li0ely diagnosis? 4& >heumatoid arthritis 8& (;Tgren!s syndrome C& Polymyalgia rheumatica 3& Mi<ed connecti#e tissue disease E& Polymyositis Correct answer Polymyositis is a disorder of the muscles characterised .y necrosis of muscle fi.res together with regeneration and inflammation& 2t presents with pro<imal muscle wea0ness and wasting& Muscle pain and tenderness can occur in up to *I- of patients% .ut wea0ness is the main symptom& 4rthralgia affecting the small ;oints of the hands can occur in a.out half of all the patients% pre-dating the muscle wea0ness& 3ysphagia due to oesophageal muscle spasm occurs in up to *I- of the patients& >aynaud!s phenomenon is commonly seen& Muscle enEymes (creatine phospho0inase and aldolase" are raised and can .e used to monitor the disease& Electromyography (EM9" shows short polyphasic motor potentials% spontaneous fi.rillation and high- freGuency repetiti#e discharges& Patients ha#e a raised E(>% normocytic and normochromic anaemia and also positi#e rheumatoid factor and antinuclear anti.odies& Patients should .e treated with prednisolone at a dose of ?I mg daily% reducing to a smaller maintenance dose& Physiotherapy to restore muscle strength may .e reGuired& 2mmunosupressants such as methotre<ate or aEathioprine may .e needed& 3ermatomyositis is the name gi#en to the condition when a rash accompanies polymyositis& 6his has an increased incidence of carcinoma of the .ronchus in men and of the o#ary in women& 4 :D-year-old man with a past history of hypothyroidism complains he has had pain and stiffness in the ;oints of his hand and feet for three months& 'e also gi#es a history of dyspnoea of that started si< wee0s ago& E<amination shows swollen hand ;oints and signs of a right pleural effusion& 4 diagnosis of rheumatoid arthritis is made& Which one of the following is characteristic of a rheumatoid pleural effusion? 4& 2t is a transudate 8& 2t has a low glucose le#el Correct answer C& =ong-standing rheumatoid effusions ha#e low cholesterol le#els 3& 2t has a high p' E& 2t should .e treated .y decortication Ap to *- of patients with rheumatoid arthritis de#elop pleural effusions at some stage& Pleural effusions are more common in men& 6hese are e<udates and typically ha#e a low p' (V )&5"% a high lactic acid dehydrogenase (=3'" le#el and a low glucose le#el& >heumatoid arthritis is unli0ely to .e the cause of an effusion if the glucose le#el in the fluid is a.o#e 1&? mmol7l& =arge amounts of cholesterol can accumulate in long-standing rheumatoid pleural effusions& Patients should initially .e treated with non-steroidal anti-inflammatory drugs (N(423s"& 3ecortication should .e considered in patients with thic0ened pleura who are symptomatic with dyspnoea& 4 **-year-old woman 0nown to suffer from se#ere disa.ling rheumatoid arthritis has a 15-month history of dyspnoea& (he also complains of a dry cough of similar duration& (he has ne#er smo0ed and has ne#er .een employed& E<amination shows a woman of a#erage .uild with se#ere hand deformities and nodules at the el.ow& Cardio#ascular e<amination is normal& =ung fields re#eal a diffuse e<piratory wheeEe& >outine .lood tests% a chest O-ray and an EC9 are all normal& What is the most li0ely reason for her symptoms? 4& 8ronchiolitis o.literans Correct answer 8& Chronic o.structi#e airway disease C& 8ronchiectasis 3& 4sthma E& Pleural effusion >heumatoid arthritis (>4" can affect the lungs in many ways& 8ronchiectasis is 0nown to .e associated with >4% as are pleural effusions% lung nodules% interstitial fi.rosis and Caplan!s syndrome& 8ronchiolitis o.literans is also 0nown to occur in >4& 2t presents with a non-producti#e cough and dyspnoea& Physical e<amination may re#eal a diffuse wheeEe& 6he chest O-ray may .e normal or show a miliary or diffuse nodular pattern& 'istology will show intraluminal polyps of organising connecti#e tissue& 6reatment is with corticosteroids% .ut% unfortunately% prognosis is poor& Fther causes of .ronchiolitis o.literans are to<ic fume inhalation% .one marrow transplantation% post lung or heart transplant% infections (#iral and Mycoplasma and =egionella spp&"% penicillamine% systemic lupus erythematosus ((=E" and polymyositis& You are as0ed to see a *I-year-old man in the surgical ward at ? am who underwent an uncomplicated cholecystectomy for gallstones the day .efore& 'e has de#eloped e<cruciating pain in his right an0le ;oint& 'e has a history of angina and hypertension for which he ta0es .endroflumethiaEide (.endrofluaEide" and aspirin& E<amination of his cardio#ascular and respiratory system is unremar0a.le% as is his a.domen& 'is right an0le is red% warm% swollen and tender& >outine .lood tests show mildly impaired renal function& What is the most li0ely diagnosis? 4& Cellulitis 8& 3eep #ein throm.osis C& (eptic arthritis 3& 9out Correct answer E& >heumatoid arthritis 9out is an a.normality of uric acid meta.olism resulting in the deposition of sodium urate crystals in ;oints% soft tissue and urinary tract& 2t is due to hyperuricaemia resulting from the o#erproduction or under-e<cretion of uric acid& 2t mainly affects men and an acute attac0 usually .egins suddenly in the early hours of the morning& 4ttac0s may .e precipitated .y a surgical operation% star#ation% dietary or alcoholic e<cess and drugs such as diuretics& 2t usually attac0s the .ig toe% .ut the an0le% 0nee or other toe ;oints may .e affected in 5*- of the patients& 6he ;oint is typically red% warm and tender& 4spirating the affected ;oint and e<amining the syno#ial fluid under polarised light microscopy will show long% needle-shaped% negati#ely .irefringent crystals% which is diagnostic& 4 normal serum uric acid does not e<clude the diagnosis of gout& 4cute attac0s should .e treated with an anti-inflammatory drug& 4 5*-year-old man presents in the casualty department with a two-day history of a painful and swollen left 0nee& 'e is pyre<ial with a temperature of D,&* SC& E<amination of his cardio#ascular and respiratory system is normal& 4n a.dominal e<amination is normal& 'e also mentions that he de#eloped a painful right ear and saw his doctor fi#e days ago who told him he had an infected ear and prescri.ed anti.iotics& 'is left 0nee is swollen% red% tender and slightly fle<ed& 4 diagnosis of septic arthritis is made& What is the most li0ely causati#e organism? 4& (treptococcus #iridans 8& (taphylococcus epidermidis C& (taphylococcus aureus Correct answer 3& Escherichia coli E& Neisseria meningitides (eptic arthritis results from infection of the ;oints with pyogenic organisms% of which (taphylococcus aureus is the commonest& Fther organisms responsi.le are streptococci% Neisseria spp& and 9ram-negati#e .acilli& 6he organisms reach the ;oint #ia the .loodstream% sometimes from 0nown sites of infection such as .oils or otitis media& =ess commonly% it may spread from osteomyelitis ad;acent to the ;oint or it may .e introduced into the ;oint as a result of trauma& 6he patient complains of a single painful ;oint% which appears red% warm and swollen& 4spirating the ;oint and e<amining and culturing the fluid should esta.lish diagnosis& 6reatment should .e started immediately with appropriate anti.iotics as delays can result in destruction of the cartilage& 6he ;oint should .e immo.ilised& 6he ;oint should .e drained .y needle aspiration& 2naccessi.le ;oints such as the hip may reGuire surgical drainage&