Module 10: Pediatrics

Question 0

Pediatric patient presents with possible neurologic disease. EMG shows abnormal spontaneous activity with fibrillations and positive sharp waves. Nerve conduction study is normal. Suspected diagnosis?

Muscle biopsy will show?

Answer 0

SMA

Groups of atrophied muscle fibers interspersed with hypertrophic type 1 fibers

Question 1

Lesions that suggest neurofibromatosis until proven otherwise?

Bones affected in NF1?

Answer 1

Optic glioma

#Osseous lesions in Long bones and sphenoid  bone
#Pseudoarthrosis (bowing of the tibia)
#Scoliosis

Question 2

Criteria for NF1?

Answer 2

Two or more of:
# six or more café au lait spots
#2 or more neurofibromas
#Freckling
#Optic glioma
#Lisch nodules
#Relative with disease
#Osseous lesions

Question 3

Neurofibroma? Composed of?

Answer 3

Tumors of nerve sheath

Schwann cells, fibroblasts, mast cells

Question 4

Malignant peripheral nerve sheath tumors seen in what disease?

Answer 4

Neurofibromatosis

Question 5

Second most common tumor in NF1?

Answer 5

Glioma

Question 6

Hypsarrhythmia seen in which patients? When? Aka?

Answer 6

Infants with infantile spasms (2-8 months)

West syndrome

Question 7

Causes of infantile spasms?

Answer 7

# metabolic conditions
#Perinatal asphyxia
#Down syndrome
#Cerebral infarction
#Structural malformations
#Tuberous sclerosis

Question 8

Describe hypsarrhythmia waves?

Answer 8

High-voltage, random, slow spikes and waves

Question 9

Therapy for infantile spasms?

Answer 9

# ACTH
#Vigabatrin (reversible inhibitor of GABA-transaminase)
#Ketogenic diet