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Difficulty: EasyPediatric Neurologic Disorders

A 7-month-old infant is brought to the pediatric clinic by his parents who report that he has been having recurrent episodes of sudden, brief, symmetric forward flexion of the neck and trunk with arm extension. These episodes occur in clusters, particularly when he is waking from sleep. Physical examination reveals three hypopigmented macules on his trunk that fluoresce under a Wood lamp. Which of the following additional clinical or diagnostic findings are most likely to be associated with this patient's underlying condition? (Select all that apply)

  1. Cardiac rhabdomyomasAnswer
  2. Subependymal giant cell astrocytomasAnswer
  3. C
    Normal acquisition of all motor and language milestones
  4. D
    Lisch nodules on slit-lamp examination
  5. E
    Pustular eruption containing eosinophils on a raised erythematous base

Answer

The correct findings associated with this patient's condition are cardiac rhabdomyomas and subependymal giant cell astrocytomas.
The patient presents with infantile spasms (flexion of the neck and trunk in clusters) and ash-leaf spots (hypopigmented macules), which is the classic presentation of Tuberous Sclerosis Complex (TSC). TSC is an autosomal dominant neurocutaneous disorder. Patients with TSC frequently develop benign tumors in various organs, specifically cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGAs).

Step-by-Step Solution

1
Identify the primary clinical syndrome based on the infant's seizure semiology and skin findings.
The clustered episodes of symmetric forward flexion indicate infantile spasms. The hypopigmented macules fluorescing under a Wood lamp are ash-leaf spots. Together, these findings strongly suggest a diagnosis of Tuberous Sclerosis Complex (TSC).
Recognizing the pathognomonic clinical criteria for neurocutaneous syndromes is the first step in determining associated systemic findings.
2
Determine the systemic hamartomas and tumors classically associated with Tuberous Sclerosis Complex.
TSC is frequently associated with subependymal giant cell astrocytomas (brain), cardiac rhabdomyomas (heart), and angiomyolipomas (kidneys).
The question asks for additional clinical or diagnostic findings related to the identified underlying condition.

Key Concept

Tuberous Sclerosis Complex (TSC) frequently presents in infancy with infantile spasms (flexion spasms in clusters) and ash-leaf spots (hypopigmented macules). It is a neurocutaneous disorder characterized by the development of hamartomas in various organs, including cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGAs).
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Pediatric Neurologic Disorders

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