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Difficulty: HardPediatric Neurologic Disorders

A nine-month-old boy is brought to the pediatric emergency department following a three-minute episode of rhythmic jerking of his left arm and leg. The parents report no fever, trauma, or recent illnesses. He has been sitting without support and babbling, which the parents confirm are his baseline developmental milestones. On physical examination, vital signs are within normal limits for age. A deep red, flat vascular macule is noted over the right forehead and upper eyelid, which the parents state has been present since birth. Neurologic examination reveals mild postictal weakness in the left upper extremity. Which of the following are accurate regarding this patient's suspected diagnosis and management? (Select all that apply)

  1. Neuroimaging is likely to reveal gyriform cortical calcifications in the right hemisphere.Answer
  2. Prompt ophthalmologic evaluation is indicated to screen for ipsilateral glaucoma.Answer
  3. C
    The facial cutaneous finding should be urgently treated with intravenous acyclovir.
  4. D
    Global developmental delay should be diagnosed due to the inability to walk independently.
  5. E
    Live-attenuated viral vaccines should be withheld due to the underlying neurologic condition.

Answer

The correct selections are that neuroimaging will likely reveal gyriform cortical calcifications in the right hemisphere, and that prompt ophthalmologic evaluation is indicated to screen for ipsilateral glaucoma.
The patient's presentation of a facial port-wine stain (nevus flammeus) in the distribution of the ophthalmic branch (V1) of the trigeminal nerve, accompanied by a contralateral focal seizure, is highly characteristic of Sturge-Weber syndrome (SWS). SWS is a sporadic neurocutaneous disorder caused by an activating somatic mutation in the GNAQ gene. It is characterized by capillary-venous malformations of the leptomeninges (leptomeningeal angiomatosis) on the ipsilateral side of the facial lesion. Over time, these vascular malformations cause underlying cortical ischemia and characteristic gyriform or 'tram-track' calcifications that can be seen on neuroimaging. Furthermore, patients with SWS are at a significantly increased risk of developing ipsilateral glaucoma due to vascular malformations in the anterior chamber angle of the eye, making prompt ophthalmologic evaluation a critical step in management.

Step-by-Step Solution

1
Analyze the clinical presentation.
The infant has a congenital vascular macule in the V1 trigeminal distribution and new-onset focal seizures contralateral to the lesion.
Identifying the classic dermatologic and neurologic triad points toward a specific neurocutaneous syndrome.
2
Diagnose the underlying condition.
The constellation of findings is highly characteristic of Sturge-Weber syndrome (SWS).
SWS is characterized by a facial port-wine stain (nevus flammeus), leptomeningeal angiomatosis, and focal seizures.
3
Determine expected findings and management steps for SWS.
Patients with SWS typically have ipsilateral gyriform calcifications on neuroimaging and are at high risk for ipsilateral glaucoma.
Understanding the systemic manifestations of SWS is necessary to select the correct screening and diagnostic options.
4
Evaluate the remaining options for common pediatric misconceptions.
Rule out infectious etiologies for the rash, recognize that the patient's developmental milestones are age-appropriate, and confirm that there are no contraindications to live vaccines.
Eliminating distractors ensures accuracy in a multiple-selection format.

Key Concept

Diagnosis and management of Sturge-Weber syndrome, including its classical presentation, neuroimaging findings, and associated ocular complications.
Estimated Time:1m 30s
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Topics

Pediatric Neurologic Disorders

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