QUESTION # 01
Cyclic vomiting in children is a syndrome in which of the following groups?
A. Migraine with aura
B. Classic Migraine
C. Migraine without aura
D. Migraine equivalent
E. Epileptic syndrome
QUESTION # 02
A 10-year-old boy with a history of seizures and headache came to your office for an evaluation. You ordered a brain MRI, which is shown. The lesion shown in the MRI is resected and pathologic analysis is consistent with sub-ependymal giant cell astrocytoma.
What is the most likely diagnosis?
A. Tuberous sclerosis complex
B. Neurofibromatosis type 1 (NF1)
C. Neurofibromatosis type 2 (NF2)
D. Sturge-Weber syndrome
E. He probably does not have a neuro-cutaneous disorder; this tumor is most often seen sporadically
Question # 03
The findings shown in the figures are consistent with which neuro-cutaneous syndrome?
Coronal T1-weighted pre-contrast MRI.
What is your diagnosis?
A. Neuro-cutaneous melanosis
B. lncontinentia pigmenti
C. Hypomelanosis of Ito
D. Sturge-Weber syndrome
E. Epidermal nevus syndrome
QUESTION # 04
Physical complications of spina bifida include which of the following?
A. Allergy to latex
B. Leg weakness and paralysis
C. Club foot
D. (B) and (C)
E. (A) and (C)
QUESTION # 05
You are seeing a 3-year-old boy for his follow-up visit. He has a history of developmental delay and intellectual disability since early in life and has developed torticollis and spasticity in his limbs. He also has a history of seizures and aggressive behavior. He began biting himself to the point of bleeding and constantly self-inflicts injuries. He has had kidney stones and hyperuricemia.
Which of the following is not correct regarding this condition?
A. The genetic defect is in the gene HPRT1
B. It is autosomal recessive
C. Hypoxanthine guanine phosphoribosyltransferase is the deficient enzyme
D. It is caused by an enzymatic defect in the purine salvage pathway
E. Patients may have choreoathetotic movements
ANSWERS TOMORROW AT 10 AM.
Question # 01
ReplyDeleteCorrect Answer is: D
Children can have three types of migraine; migraine with aura (classic migraine) migraine without aura (common migraine) and migraine equivalent syndromes. Migraine equivalent syndromes are characterized by the transitory disturbance in neurological function.
Abdominal migraine, benign paroxysmal vertigo, cyclic vomiting syndrome, benign paroxysmal torticollis, alternating hemiplegia of childhood, and vestibular migraine are different presentations of migraine equivalents. The child has normal neurological examination between attacks, there typically a family history of migraine and a clinical evolution over the years to the more classic types of migraine.
Question # 02
Correct Answer is: A
MRI shows a sub-ependymal giant cell astrocytoma (SEGA), which is an uncommon tumor, but it is seen almost exclusively in patients with tuberous sclerosis complex (TSC) and is a major diagnostic criterion for TSC. It is a benign, low grade astrocytoma but leads to symptoms due to mass effect and ventricular obstruction. Surgery is usually curative. Rapamycin may be of benefit in the treatment of SEGA. SEGA does not typically occur in the other neuro-cutaneous disorders described.
Question # 03
Correct Answer is: D
The findings shown are indicative of Sturge-Weber syndrome, in which gyral calcifications result from angiomatosis of the leptomeninges and the brain. The manifestation of Sturge-Weber syndrome includes cutaneous angioma of the face (port-wine nevus), which often occurs in a trigeminal distribution, but may involve any part of the body. Neurologic manifestations are variable; some patients may have no neurologic signs or symptoms, whereas others may have seizures, contralateral hemiparesis, and/or developmental delay. CNS involvement is most common in those with cutaneous angiomas involving the face. Cobb syndrome, or cutaneomeningospinal angiomatosis, is a variant of SturgeWeber syndrome (SWS) in which cutaneous angiomas occur in a dermatome corresponding to spinal dural angioma. Glaucoma may
be a complication of Sturge-Weber syndrome but pre-senile cataracts are not.
The pathophysiology of SWS is thought to relate to persistence of embryonal blood vessels that normally regress during gestation; it is considered a congenital malformation rather than a genetic disorder and is not hereditary.
The classic radiographic finding is one of gyral calcifications giving a tram-track appearance that may be initially best seen on a CT scan. Cerebral hemiatrophy, rather than hemimegalencephaly, is also seen. MRA is useful in assessing the extent of intracranial involvement. Cerebral venous thrombosis may occur uncommonly.
Question # 04
Correct Answer is: E
68% of children with spina bifida have an allergy to latex, ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern. Leg paralysis or weakness and orthopedic abnormalities such as club foot, hip dislocation or scoliosis, and urinary and bowel control problems are frequently present.
Question # 05
Correct Answer is: B
This is a case of Lesch-Nyhan syndrome (LNS), which is inherited in an X-linked fashion and is caused by deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGPRT), which participates in the salvage pathway of purines. These children will have delayed motor development, progressive limb and neck rigidity with dystonia, choreoathetotic movements, facial grimacing, seizures, spasticity, and intellectual disability. These patients have aggressive and severe self- mutilation behavior.
HGPRT activity can be assessed in fibroblasts, and genetic testing can also be used.
Treatment includes purine restricted diet, hydration to prevent kidney stones, allopurinol to decrease the production of uric acid, and supportive care to prevent self-inflicted injuries and control abnormal movements. Levodopa and tetrabenazine have been tried for the neuropsychiatric manifestations.