Neuromuscular

Question 1

A 6-year-old child has had repeated episodes of otitis media. She undergoes an uneventful surgical placement of pressure-equalization (PE)

tubes. In the recovery room, she develops a fever of 40°C (104°F), rigidity of her muscles, dark colored urine, and metabolic and respiratory
acidosis. Which of the following therapies is most likely to be beneficial for this child’s condition?
a. Acidification of the urine
b. Administration of intravenous antibiotics after obtaining blood cultures
c. Intravenous administration of dantrolene
d. Administration of tetanus immuno globulin and a booster dose of DTaP
e. Rectal administration of diazepam (Diastat)

Answer 1

c. Intravenous administration of dantrolene

Question 2

A 6-year-old child has had repeated episodes of otitis media. She undergoes an uneventful surgical placement of pressure-equalization (PE)

tubes. In the recovery room, she develops a fever of 40°C (104°F), rigidity of her muscles, dark colored urine, and metabolic and respiratory
acidosis. What’s the possible diagnosis?

Answer 2

Malignant Hyperthermia

which has an evidence of acute renal failure, tachycardia, arrhythmia, tachypnea, and cyanosis, myoglobinuria
, elevated serum creatine kinase levels

autosomal dominant trait

Question 3

The 7-year-old boy now in your office was last seen 2 weeks ago with a mild viral upper respiratory tract infection. Today, however, he
presents with fever, ataxia, weakness, headache, and emesis. In the office, he has a 3-minute left-sided tonic-clonic seizure. You send him to the
hospital and order a magnetic resonance imaging (MRI) with contrast of the brain, the results of which are shown. This boy’s likely diagnosis is
which of the following?
a. Multiple sclerosis
b. Acute disseminated encephalomyelitis (ADEM)
c. Malignant astrocytoma
d. Bacterial meningitis
e. Neurocysticercosis

Answer 3

b. Acute disseminated encephalomyelitis (ADEM)

ADEM is an autoimmune demyelinating disease seen in children less than 10 years of age
similar to multiple sclerosis; differences include age of onset (ADEM is usually seen in < 10-year olds), presence of systemic findings like fever and emesis, and the lack of progression in the lesions once identified

Question 4

Treatment for patient with Acute disseminated encephalomyelitis (ADEM)

Answer 4

high dose corticosteroid

Question 5

The examination of a child’s back is shown hair align in the spine. Which of the following statements about this child’s condition is true?

a. Symptoms are more likely to be seen in younger children and resolve as the child grows older.
b. Pes planus (flat foot) is commonly seen in adolescents with this condition.
c. Hypertrophy of the lower extremity muscles on one or both sides is associated with a better prognosis.
d. Hyperreflexia of the lower extremities is diagnostic at all ages.
e. Frequent urinary tract infections are commonly found.

Answer 5

Frequent urinary tract infections are commonly found.

Hairy nevus designation includes a number of spinal cord and vertebral anomalies that frequently produce severe loss of neurologic function, particularly in
the region of the back, the lower extremities (hypotonia and muscle atrophy and urinary system (leading to urinary tract infections)

Question 6

A 6-month-old child was at the 50th percentile at birth for length, weight, and head circumference. His growth curve from his last visit 1
week ago is shown. On his developmental assessment, you noted that he rolled from stomach to back occasionally but not very well from back to
stomach. He could bear weight on his legs but would not sit without assistance. Today, the family calls you urgently at 7:00 AM noting that their
child seems unable to move the right side of his body. Which of the following conditions might explain this child’s condition?
a. Phenylketonuria
b. Homocystinuria
c. Cystathioninuria
d. Maple syrup urine disease
e. Histidinemia

Answer 6

b. Homocystinuria

an autosomal recessive metabolic disease caused by
N5 deficiencies of cystathionine ß-synthase, methylenetetrahydrofolate reductase, or the coenzyme for-methyltetrahydrofolate methyltransferase

Manifested by poor growth, arachnodactyly, osteoporosis, dislocated lenses, and mental retardation. vascular occlusive disease may cause acute hemiplegia secondary to thromboembolic

Question 7

On a newborn boy’s first examination, you note a prominent occiput, a broad forehead, and an absent anterior fontanelle The infant’s head
is long and narrow as shown in the photograph. The remainder of the physical examination, including a careful neurological evaluation, is normal.
You note that the baby was born via cesarean section for cephalopelvic disproportion. When you enter the mother’s room, the first question she
asks is about her baby’s head shape. Which of the following is the most appropriate statement to the mother about this infant’s condition?
a. The condition is usually associated with other genetic defects.
b. The condition is usually associated with hydrocephalus.
c. Patients with this condition usually develop seizures.
d. The condition is associated with pituitary abnormalities.
e. The condition requires referral to a surgeon

Answer 7

e. The condition requires referral to a surgeon

Primary Craniosynostosis

Question 8

A 4-year-old child is observed to hold his eyelids open with his fingers and to close one eye periodically, especially in the evening. He has
some trouble swallowing his food. He usually appears sad, although he laughs often enough. He can throw a ball, and he runs well. Which of the
following is most likely to aid in the diagnosis?
a. Muscle biopsy
b. Creatine phosphokinase (CPK)
c. Effect of a test dose of edrophonium
d. Chest x-ray
e. Antinuclear antibodies (ANAs)

Answer 8

c. Effect of a test dose of edrophonium

Myasthenia gravis is an autoimmune disorder in which circulating acetylcholine receptor-binding antibodies result in neuromuscular blockade.

Question 9

A 4-year-old child is observed to hold his eyelids open with his fingers and to close one eye periodically, especially in the evening. He has
some trouble swallowing his food. He usually appears sad, although he laughs often enough. He can throw a ball, and he runs well. What is the diagnosis?

Answer 9

Myasthenia Gravis

Question 10

Standard initial test in determining Myasthenia Gravis

Answer 10

Ocular Ice pask Test

Question 11

A 14-year-old girl with a history of seizures is admitted to the hospital with the diagnosis of status epilepticus. Her valproic acid level is in the
therapeutic range. You arrange a 24-hour video electroencephalogram (EEG). During the EEG, she has several episodes of tonic and clonic
movements with moaning and crying, with no loss of bowel or bladder control. The neurologist tells you that during the events the EEG had
excessive muscle artifact but no epileptiform discharges. Which of the following treatments is the most appropriate for this condition?
a. Add a scheduled benzodiazepine for her muscular symptoms.
b. Add carbamazepine to her current seizure medication.
c. Increase her dose of valproic acid.
d. Withdraw all seizure medications.
e. Request a psychiatric evaluation.

Answer 11

e. Request a psychiatric evaluation.

Question 12

A previously healthy 7-year-old child suddenly complains of a headache and falls to the floor. When examined in the emergency room (ER),
he is lethargic and has a left central facial weakness and left hemiparesis with conjugate ocular deviation to the right. Which of the following is the
most likely diagnosis?
a. Hemiplegic migraine
b. Supratentorial tumor
c. Todd paralysis
d. Acute subdural hematoma
e. Acute infantile hemiplegia

Answer 12

e. Acute infantile hemiplegia

abrupt onset of a hemisyndrome, eyes looking away from the paralyzed side, strongly indicates a diagnosis of acute infantile hemiplegia. Which mostly represents thromboembolic occlusion of the middle cerebral artery or one of its major branches.

Question 13

A 5-month-old child was normal at birth, but the family reports that the child does not seem to look at them any longer. They also report
the child seems to “startle” more easily than he had before. Testing of his white blood cells (WBCs) identifies the absence of β-hexosaminidase A
activity, confirming the diagnosis of which of the following?
a. Niemann-Pick disease, type A
b. Infantile Gaucher disease
c. Tay-Sachs disease
d. Krabbe disease
e. Fabry disease

Answer 13

Tay-Sachs disease

Question 14

Enzyme Deficiency in Tay sach’s

Answer 14

β-hexosaminidase A

Question 15

Enzyme Deficiency in Niemann Pick disease

Answer 15

sphingomyelinase

Question 16

Enzyme Deficiency in Gaucher disease

Answer 16

ß-glucosidase

Question 17

Enzyme Deficiency in Krabbe disease

Answer 17

galactocerebroside ß-galactosidase

Question 18

Enzyme Deficiency in Fabry disease

Answer 18

a-galactosidase,

Question 19

normal-appearing child at birth who then develops hep-atosplenomegaly, lymphadenopathy, and psychomotor retardation in the
first 6 months, followed by regression

Answer 19

Niemann Pick disease

Question 20

presents in infancy with increased tone, strabismus, organomegaly, failure to thrive, strider, and several years of psychomotor regression before death

Answer 20

Gaucher disease

Question 21

presents early in infancy with irritability, seizures, hypertonia, and optic atrophy, with severe delay and death usually occurring in the first 3 years of life

Answer 21

Krabbe disease

Question 22

angiokeratomas in the “bathing trunk area,” resulting in severe pain episodes

Answer 22

Fabry disease

Question 23

The family of a 4-year-old boy has just moved into your area. The child was recently brought to the emergency department (ED) for an
evaluation of abdominal pain. Although appendicitis was ruled out in the ED and the child’s abdominal pain has resolved, the ED physician
requested that the family follow up in your office to evaluate an incidental finding of an elevated creatine kinase. The family notes that he was a
late walker (began walking independently at about 18 months of age), that he is more clumsy than their daughter was at the same age
(especially when trying to hold onto small objects), and that he seems to be somewhat sluggish when he runs, climbs stairs, rises from the
ground after he sits, and rides his tricycle. A thorough history and physical examination are likely to reveal which of the following?
a. Hirsutism
b. Past seizure activity
c. Proximal muscle atrophy
d. Cataracts
e. Enlarged gonads

Answer 23

d. Cataracts

Question 24

The family of a 4-year-old boy has just moved into your area. The child was recently brought to the emergency department (ED) for an
evaluation of abdominal pain. Although appendicitis was ruled out in the ED and the child’s abdominal pain has resolved, the ED physician
requested that the family follow up in your office to evaluate an incidental finding of an elevated creatine kinase. The family notes that he was a
late walker (began walking independently at about 18 months of age), that he is more clumsy than their daughter was at the same age
(especially when trying to hold onto small objects), and that he seems to be somewhat sluggish when he runs, climbs stairs, rises from the
ground after he sits, and rides his tricycle. What is the diagnosis?

Answer 24

myotonic muscular dystrophy

prominence of distal muscle weakness

Elevated creatine kinase and psychomotor retardation is the common complaint with symptoms of ptosis, baldness, hypogonadism, facial immobility with distal muscle wasting (in older children), and neonatal respiratory distress

Question 25

A 9-year-old girl is brought by her sister to her pediatrician with the complaint of severe, intermittent headaches for the past several
months, one of which resulted in her going to the ER. The physical examination today, including a careful neurologic examination, is normal. The
headache is diffuse, throbbing, lasts several hours, and is not associated with vomiting or other symptoms. The child cannot feel the headaches
coming on; they appear on all days of the week; and usually the headaches are gone when she awakens from a nap. The child reports that she is
doing well in school, plays clarinet in the school band, loves to play with her Chihuahua, and has “lots of friends.” The sister is not sure, but she
thinks their father, who lives in another state, may have headaches. Which of the following is the most appropriate next step in the diagnosis and
management of this child’s likely condition?
a. Initiation of ibuprofen immediately at the onset of symptoms
b. Trial of oral antihistamine and nasal steroids
c. MRI of the brain
d. Computed tomographic (CT) scan of the sinuses and initiation of oral antibiotics
e. Lumbar puncture for cell count and protein levels

Answer 25

a. Initiation of ibuprofen immediately at the onset of symptoms

Question 26

A 9-year-old girl is brought by her sister to her pediatrician with the complaint of severe, intermittent headaches for the past several
months, one of which resulted in her going to the ER. The physical examination today, including a careful neurologic examination, is normal. The
headache is diffuse, throbbing, lasts several hours, and is not associated with vomiting or other symptoms. The child cannot feel the headaches
coming on; they appear on all days of the week; and usually the headaches are gone when she awakens from a nap. The child reports that she is
doing well in school, plays clarinet in the school band, loves to play with her Chihuahua, and has “lots of friends.” The sister is not sure, but she
thinks their father, who lives in another state, may have headaches. What is the most likely diagnosis?

Answer 26

MIgraine

-bifrontal headache without an aura or diffuse throbbing headache of only a few hours’ duration

Question 27

Examination of the cerebrospinal fluid (CSF) of an 8-year-old, mildly febrile child with nuchal rigidity and intermittent stupor shows the
following: WBCs 85/μL (all lymphocytes), negative Gram stain, protein 150 mg/dL, and glucose 15 mg/dL. A CT scan with contrast shows
enhancement of the basal cisterns by the contrast material. Which of the following therapies is likely to be most beneficial for this child’s
condition?
a. Initiation of rapamycin (mTOR inhibitors) therapy
b. Administration of isoniazid, rifampin, pyrazinamide, and streptomycin or ethambutol
c. Intravenous heparin and subcutaneous enoxaparin (Lovenox)
d. Intravenous ceftriaxone and vancomycin
e. Administration of acetazolamide (Diamox)

Answer 27

b. Administration of isoniazid, rifampin, pyrazinamide, and streptomycin or ethambutol

Question 28

Examination of the cerebrospinal fluid (CSF) of an 8-year-old, mildly febrile child with nuchal rigidity and intermittent stupor shows the
following: WBCs 85/μL (all lymphocytes), negative Gram stain, protein 150 mg/dL, and glucose 15 mg/dL. A CT scan with contrast shows
enhancement of the basal cisterns by the contrast material. what would be the most likely diagnosis?

Answer 28

tuberculous meningitis

due to low glucose level in the CSF

Question 29

An irritable 6-year-old child has a somewhat unsteady but nonspecific gait. Physical examination reveals a very mild left facial weakness, brisk
stretch reflexes in all four extremities, bilateral extensor plantar responses (Babinski reflex), and mild hypertonicity of the left upper and lower
extremities; there is no muscular weakness. Which of the following is the most likely diagnosis?
a. Pontine glioma
b. Cerebellar astrocytoma
c. Tumor of the right cerebral hemisphere
d. Subacute sclerosing panencephalitis (SSPE)
e. Progressive multifocal leukoencephalopathy

Answer 29

a. Pontine glioma

Question 30

A 2-year-old boy has been doing well despite his diagnosis of tetralogy of Fallot. He presented to an outside ER a few days ago with a
complaint of an acute febrile illness for which he was started on a “pink, bubble-gum tasting antibiotic.” His mother reports that for the past 12
hours or so he has been holding his head saying it hurts and he is less active than normal. On your examination, he seems to have a severe
headache, nystagmus, and ataxia. Which of the following would be the most appropriate first test to order?
a. Urine drug screen
b. Blood culture
c. Lumbar puncture
d. CT or MRI of the brain
e. Stat echocardiogram

Answer 30

d. CT or MRI of the brain

to check for brain abscess that is commonly associated with cardiac defect

Question 31

A 6-year-old child is hospitalized for observation because of a short period of unconsciousness after a fall from a playground swing. He has
developed unilateral pupillary dilatation, focal seizures, recurrence of depressed consciousness, and hemiplegia. Which of the following is the most
appropriate management at this time?
a. Spinal tap
b. CT scan
c. Rapid fluid hydration
d. Naloxone
e. Gastric decontamination with charcoal

Answer 31

b. CT scan

To visualize compression of cranial nerve III and distortion of the brainstem, resulting in unilateral pupillary dilatation, hemiplegia, focal seizures, and depressed consciousness, suggest a progressively enlarging mass, most likely an epidural hematoma

Question 32

A 6-year-old boy is seen in the office for evaluation of polyuria. Further questioning reveals several months of headache with occasional
emesis. Your physical examination reveals a child who is less than 5% for weight. He has mild papilledema. His glucose is normal, and his first urine
void specific gravity after a night without liquids is 1.005 g/mL. Which of the following might also be seen in this patient?
a. Sixth nerve palsy
b. Unilateral cerebellar ataxia
c. Unilateral pupillary dilatation
d. Unilateral anosmia
e. Bitemporal hemianopsia

Answer 32

e. Bitemporal hemianopsia

upward growth of the tumor can compress the optic chiasm

Question 33

A 6-year-old boy had been in his normal state of good health until a few hours prior to presentation to the emergency department. His
mother reports that he began to have difficulty walking, and she noticed that he was falling and unable to maintain his balance. Which of the
following is the most likely to allow diagnosis of his condition?
a. Obtain urine drug screen.
b. MRI to evaluate his corpus callosum.
c. Close scrutiny of his skin for telangiectasia.
d. Perform a muscle biopsy of the gastrocnemius muscle.
e. Identification of a triplet repeat expansion on chromosome 9.

Answer 33

a. Obtain urine drug screen.

Should consider ingestion of toxin which will cause cerebellar ataxia

Question 34

A 9-year-old child has developed headaches that are more frequent in the morning and are followed by vomiting. Over the previous few
months, his family has noted a change in his behavior (generally more irritable than usual) and his school performance has begun to drop. Imaging
of this child is most likely to reveal a finding in which of the following regions?
a. Subtentorial
b. Supratentorial
c. Intraventricular
d. Spinal canal
e. Peripheral nervous system

Answer 34

a. Subtentorial

Question 35

A 6-year-old boy is seen in the office for evaluation of polyuria. Further questioning reveals several months of headache with occasional
emesis. Your physical examination reveals a child who is less than 5% for weight. He has mild papilledema. His glucose is normal, and his first urine
void specific gravity after a night without liquids is 1.005 g/mL. What is the most likely diagnosis?

Answer 35

Craniopharyngioma

Question 36

Patient findings of poor

growth, diabetes insipidus, and papilledema could be explained by a diagnosis of?

Answer 36

Craniopharyngioma

Question 37

A previously healthy 3-week-old boy was seen in your office 5 days ago. This is the family’s third child, was the product of an uneventful
pregnancy, and they have no concerns other than feeling that he does not now stool so often as their other breast-fed children. Your
examination is normal. Over the next several days, he has worsening of his “constipation” (despite the family’s trying a number of home remedies
recommended by the grandmother), he is increasingly lethargic, he has developed a weak cry, and he seems to have decreased spontaneous
movement. Overall, the family reports that his eating has decreased and he seems to be gagging when he eats. You admit him to the hospital for
a “rule out sepsis” evaluation. You find on your examination a poor gag and suck reflex with drooling from his mouth, diminished corneal reflexes,
ptosis, and loss of head control. His lumbar puncture attempt must be aborted after the collection of the first tube of fluid is gathered due to his
developing respiratory distress while curled for the procedure. Which of the following is likely to confirm your suspicions about his diagnosis?
a. Spinal fluid HSV culture results
b. Examination of both parents for electromyographic depiction of myotonic discharges
c. Resolution of his hypotonia upon administration of edrophonium
d. Finding of a tick buried in the hair on his scalp
e. Identification of botulinum toxin in the infant’s serum

Answer 37

e. Identification of botulinum toxin in the infant’s serum

Question 38

At birth, an infant is noted to have an abnormal neurologic examination. Over the next few weeks, he develops severe progressive central
nervous system (CNS) degeneration, an enlarged liver and spleen, macroglossia, coarse facial features, and a cherry-red spot in the eye. Which of
the following laboratory findings most likely explains this child’s problem?
a. Reduced serum hexosaminidase A activity
b. Deficient activity of acid β-galactosidase
c. Defective gene on the X chromosome
d. Complete lack of acid β-galactosidase activity
e. Deficient activity of galactosyl-3-sulfate-ceramide sulfatase (cerebroside sulfatase)

Answer 38

d. Complete lack of acid β-galactosidase activity

Question 39

The parents of a 2-year-old girl bring her to the emergency center after she had a seizure. Although the parents report she was in a good
state of health, the vital signs in the emergency center reveal a temperature of 39°C (102.2°F). She is now running around the room. Which
part of the story would suggest the best outcome in this condition?
a. A CSF white count of 100/μL.
b. Otitis media on examination.
c. The seizure lasted 30 minutes.
d. The child was born prematurely with an intraventricular hemorrhage.
e. The family reports the child to have had right-sided tonic-clonic activity only.

Answer 39

b. Otitis media on examination.

Question 40

The parents of a 2-year-old girl bring her to the emergency center after she had a seizure. Although the parents report she was in a good
state of health, the vital signs in the emergency center reveal a temperature of 39°C (102.2°F). She is now running around the room. And diagnosed with otitis media. What would be your differential diagnosis with regards to the episode of seizure?

Answer 40

Febrile Seizure

Question 41

About 12 days after a mild upper respiratory infection, a 12-year-old boy complains of weakness in his lower extremities. Over several days,
the weakness progresses to include his trunk. On physical examination, he has the weakness described and no lower extremity deep tendon
reflexes, muscle atrophy, or pain. Spinal fluid studies are notable for elevated protein only. Which of the following is the most likely diagnosis in
this patient?
a. Bell palsy
b. Muscular dystrophy
c. Guillain-Barré syndrome
d. Charcot-Marie-Tooth disease
e. Werdnig-Hoffmann disease

Answer 41

c. Guillain-Barré syndrome

paralysis of Guillain-Barré often occurs about 10 days after a nonspecific viral illness
Weakness is gradual over days or weeks, beginning in th lower extremities and progressing toward the trunk.

CSF fluid protein levels are increased to more than twice normal

Treatment can consist of observation alone, intravenous immunoglobulin,
steroids, or plasmapheresis

Question 42

The developmentally delayed 6-month-old child in the picture below had intrauterine growth retardation (including microcephaly), hepatosplenomegaly,
prolonged neonatal jaundice, and purpura at birth. The calcific densities in the skull x-ray shown are likely the result of which of the
following?
a. Congenital cytomegalovirus (CMV) infection
b. Congenital toxoplasmosis infection
c. Congenital syphilis infection
d. Tuberculous meningitis
e. Craniopharyngioma

Answer 42

a. Congenital cytomegalovirus (CMV) infection

encephalitic process especially affects the
subependymal tissue around the lateral ventricles thus periventricular deposition of calcium

Question 43

What is the characteristic finding in a child with CMV infection skull ct?

Answer 43

Periventricular calcification

“CMV” has a V in it, as does “periventricular”; “toxoplasmosis” has an X in it, and the lesions associated with it are scattered throughout the
“cortex,”

Question 44

A patient appears to have a scattered soft appearing intracranial calcification. What is the most likely diagnosis?

a. Congenital cytomegalovirus (CMV) infection
b. Congenital toxoplasmosis infection
c. Congenital syphilis infection
d. Tuberculous meningitis
e. Craniopharyngioma

Answer 44

b. Congenital toxoplasmosis infection

Granulomatous encephalitis caused by congenital toxoplasmosis is associated with scattered and soft-appearing intracranial calcification

Question 45

The infant with white patches on the back develops infantile spasms. Which of the following disorders is most likely to be affecting this infant?

a. Neurofibromatosis
b. Tuberous sclerosis
c. Incontinentia pigmenti
d. Pityriasis rosea
e. Psoriasis

Answer 45

b. Tuberous sclerosis

autosomal dominant
infants, achromic skin patches, especially in association with infantile spasms

Wood lamp evaluation of their skin may assist in the identification of the hypopigmented, “ash-leaf” lesions.

Question 46

A newborn infant has respiratory distress and trouble feeding in the nursery. The mother has no significant medical history, but the
pregnancy was complicated by decreased fetal movement. On physical examination, you note that aside from shallow respirations and some
twitching of the fingers and toes, the infant is not moving, and is very hypotonic. In the mouth, there is pooled saliva and you note tongue
fasciculations. Deep tendon reflexes are absent. Spinal fluid is normal. Appropriate statements about this condition include which of the following
statements?
a. The condition is caused by the absence of the muscle cytoskeletal protein dystrophin.
b. The condition is caused by the degeneration of anterior horn cells in the spinal cord.
c. The condition is caused by the antibodies that bind the acetylcholine receptor at the postsynaptic muscle membrane.
d. The condition is caused by progressive autoimmune demyelination.
e. The condition is caused by birth trauma.

Answer 46

b. The condition is caused by the degeneration of anterior horn cells in the spinal cord.

spinal muscular atrophy (SMA) type I, Werdnig-Hoffman disease
found in the survivor motor neuron (SMN) gene that stops apoptosis of motor neuroblasts

defect in the SMN gene results in a continuation of apoptosis, resulting in progressive destruction of motor neurons in the brain
stem and spinal cord.

Question 47

A 3-year-old boy’s parents complain that their child has difficulty walking. The child rolled, sat, and first stood at essentially normal ages and
first walked at 13 months of age. Over the past several months, however, the family has noticed an increased inward curvature of the lower
spine as he walks and that his gait has become more “waddling” in nature. On examination, you confirm these findings and also notice that he has
enlargement of his calves. Which of the following is the most likely diagnosis?
a. Occult spina bifida
b. Muscular dystrophy
c. Brain tumor
d. Guillain-Barré syndrome
e. Botulism

Answer 47

b. Muscular dystrophy

most common form is Duchenne muscular dystrophy
While these children walk at the appropriate age, the hip girdle weakness is seen by
the age of 2 years.
Increased lordosis, while standing, is evidence of gluteal weakness.
(+) Gower’s sign(use of the hands to “climb up” the legs inorder to assume the upright position) is seen by 3 to 5 years of age, as is the hip waddle gait.

Question 48

A newborn infant has respiratory distress and trouble feeding in the nursery. The mother has no significant medical history, but the
pregnancy was complicated by decreased fetal movement. On physical examination, you note that aside from shallow respirations and some
twitching of the fingers and toes, the infant is not moving, and is very hypotonic. In the mouth, there is pooled saliva and you note tongue
fasciculations. Deep tendon reflexes are absent. Spinal fluid is normal. What is the most likely diagnosis?

Answer 48

spinal muscular atrophy (SMA) type I, Werdnig-Hoffman disease

defect in the SMN gene results in a continuation of apoptosis, resulting in progressive destruction of motor neurons in the brain
stem and spinal cord.

Question 49

A previously healthy 16-year-old girl presents to the emergency center with the complaint of “falling out.” She was with her friends at a
local fast food restaurant when she felt faint and, according to her friends, lost consciousness for about a minute. There was no seizure activity
noted, but the friends did notice her arms twitching irregularly. She is now acting normally. She denies chest pain or palpitations, and her
electrocardiogram (ECG) is normal. Further management of this patient should include which of the following?
a. Obtain an EEG.
b. Refer to a child psychiatrist.
c. Begin β-blocker therapy
d. Encourage adequate fluid and salt intake.
e. Obtain serum and urine drug screens.

Answer 49

d. Encourage adequate fluid and salt intake.

Simple syncope majority of syncopal episodes are
vasovagal.

patients with recurrent vasovagal syncope may be managed using ß- blockers or fludrocortisone.

Question 50

A 15-year-old girl has an acute, recurrent, pulsatile headache localized behind the eyes that tends to occur more frequently around menses.
She has no symptoms that occur prior to the headache; her neurologic examination is normal.
a. Tension headache
b. Factitious headache
c. Vascular headache (migraine)
d. Increased intracranial pressure
e. Hemiplegic migraine

Answer 50

c. Vascular headache (migraine)

Question 51

A 7-year-old boy has chronic, worsening headache without preceding symptoms. He complains of emesis in the morning before breakfast for
the last 2 weeks.
a. Tension headache
b. Factitious headache
c. Vascular headache (migraine)
d. Increased intracranial pressure
e. Hemiplegic migraine

Answer 51

d. Increased intracranial pressure

Question 52

A 12-year-old boy has chronic headache that worsens during the school day. These headaches are not associated with nausea or emesis,
and he does not have any symptoms prior to the headache.
a. Tension headache
b. Factitious headache
c. Vascular headache (migraine)
d. Increased intracranial pressure
e. Hemiplegic migraine

Answer 52

a. Tension headache

Question 53

Eye blinking or throat-clearing noises in an otherwise healthy 8-year-old boy.

a. Transient tic disorder of childhood
b. Tourette syndrome
c. Sydenham chorea
d. Dystonia
e. Cerebral palsy

Answer 53

a. Transient tic disorder of childhood

most common and is seen more often in boys; a family history is often noted

Question 54

A 6-year-old boy with emotional lability, poor school performance, and milkmaid’s grip (irregular contractions of the hand muscles when
squeezing the examiner’s fingers).
a. Transient tic disorder of childhood
b. Tourette syndrome
c. Sydenham chorea
d. Dystonia
e. Cerebral palsy

Answer 54

c. Sydenham chorea

Question 55

An 8-year-old hospitalized boy with unusual “spasms” of his neck and arms shortly after receiving Phenergan for nausea caused by his
chemotherapy.
a. Transient tic disorder of childhood
b. Tourette syndrome
c. Sydenham chorea
d. Dystonia
e. Cerebral palsy

Answer 55

d. Dystonia