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Mbius Syndrome
-Nonprogressive congenital facial diplegia (usually bilateral) with
unilateral or bilateral loss of the abductors of the eye
anomalies of the extremities
aplasia of the brachial and thoracic muscles.
-The etiology could be:
CNS hypoplasia,
primary peripheral muscle defect with secondary
nerve degeneration
Lower motor neuron involvement.
Morgagni-Stewart-Morel Syndrome
-Occurs in menopausal women
obesity
dizziness
psychologic disturbances
inverted sleep rhythm
hyperostosis frontalis interna
-Treatment- supportive.
Munchausen Syndrome
-Named after Baron Hieronymus Karl Freidrich von
Mnchausen (1720-1791) by Asher in 1951. The integral
features of this syndrome are:
1. A real organic lesion from the past that has left some
genuine signs but is causing no organic symptoms.
2. Exorbitant lying with dramatic presentation of nonexistent
symptoms.
3. Traveling widely with multiple hospitalizations.
4. Criminal tendencies.
5. Willingness to undergo painful and dangerous treatment.
6. Presenting challenging illnesses for treatment.
7. Unruly behavior during hospital stays and early self
discharge without prior approval.
8. Patients often inflict pain on their own children and forcibly
create symptoms to indirectly receive hospital treatment.
-Patients usually go from one medical center to another to be
admitted with dramatic presentations of nonorganic symptoms
related to a real organic lesion on the past medical history
Takayasu Disease Toxic Shock Syndrome
Aka pulseless disease and aortic arch syndrome prolonged nasal packing & staphylococcal infection of surgical
narrowing of the aortic arch and its branches wounds
autoimmune disorder Symptoms
unknown etiology (UE) fever, rash, hypotension, mucosal hyperemia,
Sx originate in the head and neck area vomiting, diarrhea, laboratory evidence of
sensorineural hearing multiorgan dysfunction, and desquamation during
sssoc. with B-cell alloantigens DR4 and MB3 recovery.
Treatment Tx: Single-dose antimicrobial prophylaxis
Steroid screening for toxic shock syndrome toxin (TSST)-1producing
Cyclophosphamide Staphylococcus aureus--points out high-risk patients
Surgery (during the inactive phase of the dse)
Trigeminal Trophic Syndrome
Tapia Syndrome trigeminal neurotrophic ulceration or trigeminal neuropathy
Unilateral paralysis of the larynx and tongue (w/ atrophy of the with nasal ulceration
tongue) presentation:
soft palate and cricothyroid muscle-- intact ulceration of the face(part. ala nasi)
th th
lesion at the point where the 12 & 10 nerves, together with chronic, nonspecific ulceration and crusting
the internal carotid artery, cross one another. erythema
Trauma is the most common cause tendency to bleed easily
Pressure neuropathy due to inflation of the cuff of an predominant granulation tissue
endotracheal tube within the larynx, rather than within the Treatment should focus on prevention of trauma to lesion and
trachea, is associated with the palsy of the laryngeal nerve. prevention of secondary infection.
Tolosa-Hunt Syndrome
cranial polyneuropathy--recurrent unilateral painful
ophthalmoplegia, UE
Cranial nerves II, III, IV, V1, and VI may be involved.
tendency for spontaneous resolution and for recurrence
occlusion of the superior ophthalmic vein and at least partial
obliteration of the cavernous sinus.
Tx: systemic steroids
Tourette Syndrome
disorder of the CNS, UE
characterized by
appearance of involuntary tic movements, such as
rapid eye blinking, facial twitches, head jerking, or
shoulder shrugging.
Involuntary sounds, such as repeated throat clearing,
nervous coughing, or inappropriate use of words,
responds to medication
higher rate of absorption, or binding at D2 dopamine receptors
on cells in the caudate nucleus
Vail Syndrome WALLENBERG SYNDROME
unilateral, usually nocturnal, vidian neuralgia that Aka syndrome of PICA thrombosis or Lateral
may be associated with sinusitis. Medullary Syndrome
VATER Syndrome (VACTERL Syndrome) Ischemia of the brain stem (lat medullary region)
Vertebral defects Vertigo, nystagmus, nausea, vomiting, Horner
Anal atresia syndrome, dysphagia, dysphonia, hypotonia,
Tracheoesophageal fistula asthenia, ataxia, falling on the side of the lesion, and
Esophageal atresia loss of pain and temperature sense on the ipsilat.face
Renal defects and contralat.side below the neck
radial Limb dysplasia
Vascular anomalies
WEBER SYNDROME
ventricular septal defect
Paralysis of the OCULOMOTOR NERVE (CN 3) on
single umbilical artery
Vertebral anomalies
the side of the lesion and paralysis of the extremities,
hypoplasia of either the vertebral bodies or the face and tongue on the contralateral side.
pedicles2 scoliosis in children Indicates a lesion in the ventral and internal part of
Anal and perineal anomalies the cerebral peduncle
hypospadias
persistent urachus WHISTLING FACE SYNDROME
female pseudohermaphroditism Aka CRANIOCARPOTARSAL DYSPLASIA
imperforate anus AUTOSOMAL DOMINANT
genitourinary fistulas Main physical features:
GI anomalies - Antimongoloid slant of the palpebral fissures,
duodenal atresia - Blepharophimosis,
esophageal atresia - Broad nasal bridge
tracheoesophageal fistula
- Convergent strabismus
Radial anomalies
- Enophthalmos
supernumerary digiti
hypoplastic radial rays
- Equinovarus w/ contracted toes
preaxial lower extremity anomalies - Flat midface
Renal anomalies - H-shaped cutaneous dimpling on the chin
aplasia or hypoplasia of the kidneys - Kyphosis-scoliosis
ectopia or fusion as well as congenital hydronephrosis - Long philtrum
and hydroureter. - Mask-like rigid face
Hold-Oram syndrome is often confused with this syndrome, but - Microglossia
VATER syndrome is random whereas Hold-Oram is inherited - Microstomia
(formed prior to the fifth week of fetal life during - Protruding lips
organogenesis) - Small nose and nostrils
- Steeply inclined anterior cranial fossa on xray
Villaret Syndrome - Thick skin over flexor surfaces of the proximal
same as the jugular foramen syndrome except that Horner phalanges
syndrome is present here - Ulnar deviation
more extensive involvement in the region of the
- Flexion contractures of the fingers
jugular foramen, the retroparotid area, and the
lateral pharyngeal space.
WILDERVACK (CERVICO-OCULO-ACOUSTIC) SYNDROME
Vogt-Koyanagi-Harada Syndrome Mixed hearing loss
spastic diplegia with athetosis Klippel-Feilanomalad (fused cervical vertebrae)
pseudobulbar paralysis (lesion of the caudate nucleus Bilateral abducens palsy with retracted bulb (Duane
and putamen) syndrome)
bilateral uveitis F>M, 75:1
vitiligo Sex linked dominance w/ lethality in the homozygous
deafness male subject
alopecia
increased CSF pressure WILSON DISEASE (HEPATICOLENTICULAR
retinal detachment DEGENERATION)
2 Types:
Von Hippel-Lindau Disease Rapidly progressive- occurs during childhood
cerebellar, medullary, and spinal hemangioblastoma Slowly progressive occurring in the 3rd or 4th decades
retinal angiomata Familial
pheochromocytoma Cirrhosis w/ progressive damage to CNS
renal cell carcinoma Kayser- Fleischer ring- brown pigmentation, outer
sometimes fatal disease is predisposed to papillary margin of the cornea
adenoma of the temporal bone. Can present w/ hearing loss
WINKLER DISEASE
CHONDRODERMATITIS NODULARIS
CHRONICA HELICIS)
AV anastomosis and nerve ending accumulation at
the helical portion of the ear
Pain; hard round nodules involving the skin and
cartilage of the helix
90% occur in Men
Tx: Excision of nodules and Steroids
XERODERMA PIGMENTOSUM
AR
Photosensitive skin D/O w/ multiple basal cell
epitheliomas
Can result to : SCC or MM
Occurs mainly in Children
Keep away from the sun