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Cancer Borealis Stomatogastric Nervous System Dissection

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Sturge--Weber syndrome: report of an unusual cutaneous distribution.

C Inan¹, J Marcus

¹State University of New York at Brooklyn, Division of Pediatric Neurology, Brooklyn 11203, USA. ciakman@aol.com

Brain & Development

|March 19, 1999

Summary

Sturge-Weber syndrome, a rare neurological disorder, can present with unusual skin findings like facial and limb angiomas. This case highlights extensive cutaneous and intracranial vascular malformations in an infant.

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Area of Science:

Neurology
Dermatology
Pediatrics

Background:

Sturge-Weber syndrome is a congenital disorder characterized by a facial birthmark (port-wine stain) and neurological abnormalities.
It results from a genetic mutation leading to abnormal blood vessel development.
Diagnosis typically involves clinical evaluation and neuroimaging.

Observation:

An 11-month-old girl presented with a seizure disorder.
Physical examination revealed facial, palmar, and plantar angiomas.
Asymmetric development was noted, with the right face and arm being smaller, accompanied by hypotonia and weakness.

Findings:

Cranial CT scan showed left fronto-parietal intracranial calcification.
Brain MRI with gadolinium revealed a large leptomeningeal angioma affecting the entire left hemisphere.
The patient was diagnosed with Sturge-Weber syndrome.

Implications:

This case underscores the diverse and sometimes atypical cutaneous manifestations of Sturge-Weber syndrome.
Early diagnosis and comprehensive management are crucial for patients with this condition.
Further research into the genetic and clinical spectrum of Sturge-Weber syndrome is warranted.