NEUROMUSCULAR

Question . 1. A 12-yr-old girl experienced diarrhea, which lasted for 3 days, 2 wk before manifesting progressive weakness and inability to walk. She has intermittent tingling of her fingers and toes. Physical examination reveals marked peripheral muscle weakness without atrophy or fasciculations. The deep tendon reflexes are absent in her ankles and 1+ at her knees. Findings on the sensory examination are normal. Motor involvement is symmetric. The most likely diagnosis is: Transverse myelitis Guillain-Barr syndrome Explanation: Guillain-Barr syndrome is an ascending peripheral polyneuropathy that is predominantly motor but may have mild sensory symptoms (paresthesias). An upper respiratory tract infection or diarrhea (often due to Campylobacter) often precedes the onset of paralysis. (See Chapter 607 in Nelson Textbook of Pediatrics, 17th ed.) Polio Myasthenia gravis Mononeuritis multiplex Question . 2. The patient described in Question 1 is admitted to the hospital and now has progressive weakness and areflexia of the knees and ankles. An important test to perform is: Determination of urine specific gravity Electrocardiogram (ECG) Serum creatine kinase determination Muscle biopsy Pulmonary function testing Explanation: Pulmonary function tests, such as measurement of negative inspiratory force, are helpful in detecting impending respiratory failure due to intercostal or phrenic nerve involvement. Reductions in inspiratory force often precede abnormalities of the arterial blood gases (hypercarbia, hypoxia) and should be monitored frequently in any patient with acute progressive muscle weakness. (See Chapter 607 in Nelson Textbook of Pediatrics, 17th ed.)

Qestion . 3. A 15-yr-old boy has lost his ability to walk. On physical examination, his ankle and knee deep tendon reflexes are noted to be diminished. The weakness is greatest in peripheral muscles. Cranial nerves all are normal. One week before these symptoms arose, he returned from a camping trip. The most likely diagnosis is: Myasthenia gravis Organophosphate poisoning Spinal muscular atrophy Botulism Tick paralysis Explanation: Ticks (wood or dog) may produce a motorsensory neuropathy indistinguishable from Guillain-Barr syndrome. On removal of the tick (often on the scalp), the paralysis rapidly resolves. (See Chapter 605 in Nelson Textbook of Pediatrics, 17th ed.) Question . 4. A 10-yr-old girl has had diplopia and ptosis and weakness of her neck flexors for 2 mo. Symptoms are worse in the evening and are usually less severe on awakening in the morning. She has no fasciculations or myalgias, and her deep tendon reflexes are 1-2+. The most likely diagnosis is: Hysterical weakness Muscular dystrophy Spinal muscular atrophy Botulism Myasthenia gravis Explanation: Myasthenia gravis is characterized by progressive muscle weakness that is exacerbated by repetitive muscle use. Classically, the facial and extraocular muscles are involved. (See Chapter 603 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 5. A 4-yr-old has difficulty in climbing stairs, slow motor development, and hypertrophied calf muscles. The most likely diagnosis is: Myasthenia gravis Myotonia congenita Duchenne muscular dystrophy Explanation: Duchenne muscular dystrophy is also called pseudohypertrophic muscular dystrophy. (See Chapter 600 in Nelson Textbook of Pediatrics, 17th ed.) Hypokalemic periodic paralysis Central core disease Question . 6. All of the following statements regarding creatine kinase (CK) are true except: It is the most useful serum enzyme reflecting damaged muscle fibers The MM isozyme is found primarily in skeletal muscle The MB isozyme is found primarily in cardiac muscle The BB isozyme is found primarily in smooth muscle Explanation: Creatine kinase (CK) is one of several lysosomal enzymes released by damaged or degenerating muscle fibers and is the most useful in laboratory measurement of these enzymes in serum. CK is found in only three organs and may be separated into corresponding isozymes: MM for skeletal muscle, MB for cardiac muscle, and BB for brain. (See Chapter 598 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 7. All of the following statements regarding congenital neuromuscular disorders are true except: Most are hereditary Most are nonprogressive conditions The definitive diagnosis is best made by electromyography (EMG) Explanation: The definitive diagnosis of congenital neuromuscular disorders is best determined by histopathologic findings in the muscle biopsy sample. Most of the congenital myopathies are hereditary; some are sporadic. In a few conditions for which the defective gene has been identified, the diagnosis may be established using the specific molecular probe on lymphocytes. (See Chapter 599 in Nelson Textbook of Pediatrics, 17th ed.) Diagnosis for some disorders may be confirmed by genetic analyses of lymphocytes Hypotonia is a common feature Question . 8. Characteristic features of muscular dystrophies include which of the following? They are a primary myopathy They have a genetic basis The course is progressive Degeneration and death of muscle fibers occur at some stage of disease All of the above Explanation: The muscular dystrophies are a group of unrelated disorders, each transmitted by a different gene and each differing in its clinical course and expression. The muscular dystrophies are distinguished from other neurogenic disorders by the four obligatory criteria listed in the question. (See Chapter 600 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 9. All of the following statements regarding Duchenne muscular dystrophy are true except: It is the most common hereditary neuromuscular disease It is inherited as an autosomal dominant trait Explanation: Duchenne muscular dystrophy, the most common hereditary neuromuscular disorder, is inherited as an X-linked recessive trait. The gene is on the X chromosome at the Xp21 locus. (See Chapter 600 in Nelson Textbook of Pediatrics, 17th ed.) Symptoms are rarely present at birth or in early infancy The serum creatine kinase is consistently greatly elevated It is more common in males Question . 10. Characteristic clinical manifestations of Duchenne muscular dystrophy include: Cardiomyopathy Intellectual impairment Weakness of respiratory muscles Scoliosis All of the above Explanation: Cardiomyopathy is a constant feature of Duchenne muscular dystrophy, although the severity of cardiac involvement does not necessarily correlate with the degree of skeletal muscle weakness. Intellectual impairment occurs in all patients, although only 20-30% have an intelligence quotient (IQ) of less than 70. Scoliosis is common. (See Chapter 600.1 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 11. All of the following are associated with constant muscle weakness except: Hypothyroidism Hyperparathyroidism Corticosteroids Hyperaldosteronism (Conn syndrome) Explanation: Thyrotoxicosis causes proximal muscle weakness and wasting accompanied by electromyogram (EMG) changes. Hypothyroidism, whether congenital or acquired, consistently produces proximal muscle weakness and hypotonia. Hyperparathyroidism causes weakness and reversible muscle wasting. Both natural Cushing disease and exogenous corticosteroid administration may cause proximal muscle weakness. Hyperaldosteronism is accompanied by episodic and reversible muscle weakness. (See Chapter 598 in Nelson Textbook of Pediatrics,17th ed.) Question . 12. All of the following statements regarding malignant hyperthermia are true except: It is inherited as an autosomal dominant trait Acute episodes are typically precipitated by intravenous administration of dyes for radiographic studies Explanation: Acute episodes of malignant hyperthermia are precipitated by exposure to general anesthetics and occasionally to local anesthetic drugs. Acute attacks may be prevented by administration of dantrolene sodium before an anesthetic is administered. (See Chapter 602.2 in Nelson Textbook of Pediatrics, 17th ed.) Myoglobinuria may result in tubular necrosis and acute renal failure Attacks may be prevented by administration of dantrolene sodium Metabolic acidosis may be severe

Question . 13. Which of the following is the etiology in most cases of myasthenia gravis? Inheritance as a recessive trait Inheritance as an X-linked trait Postinfectious, usually after either influenza or chickenpox Autoimmune disorder Explanation: Myasthenia gravis is an autoimmune disorder. A rare familial form is probably an autosomal recessive trait but is not associated with plasma anti-anti-acetylcholine antibodies. (See Chapter 603 in Nelson Textbook of Pediatrics, 17th ed.) Idiopathic Question . 14. Which of the following is the earliest and most consistent sign of myasthenia gravis? Gowers sign Trendelenburg gait Ptosis and extraocular muscle weakness Explanation: Ptosis and some degree of extraocular muscle weakness are the earliest and most constant signs in myasthenia gravis. Older children may complain of diplopia. (See Chapter 603.1 in Nelson Textbook of Pediatrics, 17th ed.) Respiratory muscle weakness Head lag

Question . 15. The best method for diagnosis of myasthenia gravis is: Assay for anti-acetylcholine antibodies Nerve conduction velocity (NCV) studies Electromyogram (EMG) Explanation: Myasthenia gravis is one of the few neuromuscular diseases in which an electromyogram (EMG) is more diagnostic than muscle biopsy. A decremental response occurs in response to repetitive nerve stimulation; the muscle potentials diminish rapidly in amplitude until the muscle becomes refractory to further stimulation. Motor nerve conduction velocity remains normal. Plasma anti-acetylcholine antibodies should be assayed but are inconsistently found, being present in only one third of adolescents. (See Chapter 603.1 in Nelson Textbook of Pediatrics, 17th ed.) Nerve biopsy Muscle biopsy Question . 16. Which of the following is a common clinical manifestation of myasthenia gravis? Cardiomyopathy Intellectual impairment Weakness of respiratory muscles Explanation: If untreated, myasthenia gravis is usually progressive and may become life-threatening because of respiratory muscle weakness. Cardiomyopathy is not a feature of myasthenia gravis, and electrocardiogram (ECG) findings remain normal. (See Chapter 603.1 in Nelson Textbook of Pediatrics, 17th ed.) Scoliosis Headache

Question . 17. A 1-day-old newborn, born to a myasthenic mother, has generalized hypotonia and weakness. Which of the following best describes the prognosis? Greatly increased risk of the complete picture of myasthenia gravis Small but increased risk of the complete picture of myasthenia gravis No increased risk of myasthenia gravis Explanation: After the abnormal (maternally derived) antibodies disappear, offspring born to myasthenic mothers have normal muscle strength and are not at increased risk for myasthenia gravis in later life. (See Chapter 603.1 in Nelson Textbook of Pediatrics, 17th ed.) Some residual weakness until puberty but no increased risk of myasthenia gravis Episodes of diminishing severity of muscle weakness until puberty Question . 18. A 4-yr-old child with a history of poor sucking and swallowing as an infant recently experienced excessive sweating and blotchy erythema, especially when excited. Walking is clumsy. There has been new onset of episodes of cyclic vomiting lasting 24-27 hr, with retching and vomiting every 15-20 min as well as profuse sweating, blotchy erythema, and evidence of apprehension and irritability. The most likely diagnosis is: Duchenne muscular dystrophy Fabry disease Chronic organophosphate intoxication Familial dysautonomia (Riley-Day syndrome) Explanation: Familial dysautonomia (Riley-Day syndrome) is usually expressed in infancy as poor sucking and feeding. Autonomic crises usually begin after age 3 yr. (See Chapter 606.1 in Nelson Textbook of Pediatrics, 17th ed.) Guillain-Barr syndrome

Question . 19. A 4-yr-old child presents with symmetric weakness that began in the lower extremities and subsequently progressed over 10-14 days to involve the trunk and upper limbs. Deep tendon reflexes are absent. There are no sensory deficits or bowel or bladder dysfunction. Nerve conduction velocity test results are abnormal. The cerebrospinal fluid shows protein of 78 mg/dL and 5 white blood cells. The most likely diagnosis is: Duchenne muscular dystrophy Fabry disease Familial dysautonomia (Riley-Day syndrome) Bell palsy Explanation: Guillain-Barr syndrome is a postinfectious polyneuropathy that causes demyelination, primarily in the motor nerves. The onset is typically gradual, with symmetric involvement that begins in the lower extremities and progressively involves the trunk and upper limbs. Bulbar involvement occurs in about half of cases. Spontaneous recovery usually occurs in 2-3 weeks. (See Chapter 607 in Nelson Textbook of Pediatrics, 17th ed.) Guillain-Barr syndrome Question . 20. A 9-yr-old boy presents with paresis of the upper and lower portions of the face and loss of taste on the right side of the anterior portion of the tongue. On physical examination, the corner of the mouth droops, and he is unable to close the right eye tightly. Findings on the remainder of the physical examination are normal. The most likely diagnosis is: Duchenne muscular dystrophy Fabry disease Familial dysautonomia (Riley-Day syndrome) Bell palsy Explanation: Bell palsy is an acute unilateral facial nerve palsy that is not associated with other cranial neuropathies of brainstem dysfunction. It is a common disorder at all ages and typically develops about 2 weeks after a systemic infection, especially herpes simplex virus and Lyme disease. (See Chapter 608 in Nelson Textbook of Pediatrics, 17th ed.) Guillain-Barr syndrome

Question . 21. A 5-yr-old boy has been falling frequently and cannot climb stairs as well as he did 6-12 months ago. He is an only child, and there is no family history of neurologic disease. On examination, he has proximal weakness of the legs and enlargement of the calves, but no weakness of cranial or extraocular muscles. Serum creatine kinase is 16,400 IU/L. You suspect Duchenne muscular dystrophy and request assay for a molecular marker in blood for dystrophinopathy, but the result is normal. The next diagnostic test likely to confirm or refute your clinical diagnosis is: EMG Detailed physical therapy evaluation A repeat of the blood marker assay in the child and also in the mother Muscle biopsy MRI study of calves and thighs Explanation: (See Chapters 598 and 599 in Nelson Textbook of Pediatrics, 17th ed.) Question . 22. A male neonate has respiratory distress, dysphagia, and generalized muscular hypotonia and weakness. Pregnancy was uncomplicated, but the mother reports weak fetal movements in the last trimester. Delivery at term was uneventful, and Apgar scores at 1 and 5 min were 7 and 8. On examination, he has a dolichocephalic head, high-arched palate, thin muscle mass in trunk and extremities, and undescended testes. This clinical picture is least suggestive of: Nemaline rod myopathy X-linked myotubular myopathy Duchenne muscular dystrophy Explanation: (See Chapter 599 in Nelson Textbook of Pediatrics, 17th ed.) Myotonic dystrophy, neonatal form Congenital muscular dystrophy with merosin deficiency

Question . 23. An 8-yr-old girl demonstrates progressive ataxia, deterioration in speech and academic performance in school, tingling paresthesias of the feet, and weakness of the ankles with inability to dorsiflex her feet. Nerve conduction velocity studies show moderate slowing in motor component of the peroneal nerves, and an MRI study of the brain reveals white matter lesions in the periventricular white matter and cerebellum. These findings would be compatible with any of the following except: Metachromatic leukodystrophy Hereditary motor-sensory neuropathy type I (CharcotMarie-Tooth disease) Explanation: (See Chapter 604 in Nelson Textbook of Pediatrics, 17th ed.) Giant axonal neuropathy Globoid cell leukodystrophy (Krabbe disease) Adrenoleukodystrophy Question . 24. The most frequent toxic neuropathy in children in the United States currently is due to: Lead Arsenic Organophosphates used in insecticides Various industrial and agricultural pollutants in drinking water Drugs used in chemotherapy Explanation: (See Chapter 605 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 25. A 15-yr-old boy complains of slowly progressive difficulty with coordination and intermittent diplopia. He also has mild generalized weakness. Studies demonstrate normal serum creatine kinase, a mild lactic acidosis, and ECG evidence of cardiomyopathy. EMG shows nonspecific myopathic features. Your provisional diagnosis, to be confirmed by other tests, is: Mitochondrial cytopathy Explanation: (See Chapter 602 in Nelson Textbook of Pediatrics, 17th ed.) Facioscapulohumeral muscular dystrophy Congenital muscle fiber-type disproportion Metachromatic leukodystrophy Multiple sclerosis Question . 26. The muscle biopsy in mitochondrial cytopathies may show all of the following histopathologic features except: Ragged-red fibers with trichrome stain Lymphocytic infliltrates in perivascular and interstitial spaces Explanation: (See Chapter 602 in Nelson Textbook of Pediatrics, 17th ed.) Loss of cytochrome c oxidase (COX) activity in some but not all myofibers Ultrastructural abnormalities in mitochondrial cristae Increased lipid within myofibers

Question . 27. An 8-yr-old girl develops progressive proximal weakness, easy fatigue, a waddling gait, and myalgias of the thighs and shoulders over a period of 6 weeks, and a violaceous rash appears over the malar areas of her face and the extensor surfaces of the finger joints. Tendor reflexes are preserved. No heart murmur is heard, and she has no visceromegaly, generalized lymphadenopathy, or fever. The most likely diagnosis is: Systemic lupus erythematosus (SLE) Polymyositis Facioscapulohumeral muscular dystrophy Viral myositis with exanthema Dermatomyositis Explanation: (See Chapter 149 in Nelson Textbook of Pediatrics, 17th ed.) Question . 28. A 13-yr-old girl develops ptosis, diplopia, and difficulty swallowing but is afebrile and otherwise in good health. On examination, her ptosis is noted to increase with sustained upward gaze for 30 sec. No weakness of the extremities or limb girdles is detected, and she has no myalgias or tenderness of muscles to palpation. The initial diagnostic test most likely to confirm the diagnosis is: Anti-acetylcholine receptor antibodies in blood Computed tomography of the thorax for thymoma Motor nerve conduction velocity studies and EMG Edrophonium (Tensilon) test Explanation: (See Chapter 603 in Nelson Textbook of Pediatrics, 17th ed.) Muscle biopsy