Child Neurology

Question 1

1) Young child with heel cord contractures, walking on toes, and generalized hyperreflexia. Diagnosis?

Answer 1

Cerebral palsy. Walking on toes is equinavarous deformity, and heel cord contractures refers to the achilles
Remember that CP patients can have hyperreflexivity!

Question 2

4) Multiple skin lesions needing to be removed surgically. MRI showing enhancing lesion at C6 neural foramina. Diagnosis? Is type 1 or type 2 more common?

Answer 2

Neurofibromatosis type 1. Also much more common than 2 which is associated with bilateral acoustic neuromas

Question 3

5) Characteristics of tuberous sclerosis (anatomic and clinical manifestation)?

Answer 3

Multiple nodules develop in the subependymal zone (below lateral ventricles in the brain). This region contains adult stem cells
Patients often present with seizures

Question 4

6) Torticollis defined and it’s disease association. (Hint: Rx is risperidone or haldol)

Answer 4

Defined: Dystonia of the neck muscles. Associated with Tourette’s disorder

Question 5

8) What the significance of a patient with exercise induced muscle cramping and dark urine?

Answer 5

Indicates a glycogen storage disease (issues with glycolysis breakdown of stored sugar)
McArdle’s disease is an example

Question 6

10) Pediatric patient with retardation, microcephaly, seizures, and CT showing hyperdensities along the margins of lateral ventricles. Diagnosis?

Answer 6

Congenital CMV

Don’t confuse imaging finding with tuberous sclerosis with nodules in subependymal zone just below lateral ventricles