Sturge-Weber syndrome type III in pediatrics: a case report

TL;DR

A 5-year-old boy with Sturge-Weber syndrome type III showed neurological symptoms but no skin or eye issues, diagnosed via imaging and lab tests.

Contribution

This case report adds to the limited literature on SWS type III by emphasizing imaging's role in diagnosis and favorable outcomes with early detection.

Findings

The patient had neurological symptoms but no facial hemangioma, typical of SWS type III.

Imaging confirmed leptomeningeal capillary malformations with calcifications in the left occipital lobe.

Symptoms were controlled with treatment, showing a favorable prognosis for early-detected cases.

Abstract

Sturge-Weber syndrome (SWS) type III is a rare neurocutaneous disorder characterized by isolated neurological involvement without cutaneous or ocular manifestations. This case report describes the clinical, laboratory, and imaging findings of a 5-year-old male patient with SWS type III who presented with recurrent headaches and convulsions for 1 year. No facial hemangioma was noted on physical examination. Laboratory tests revealed mild hyperammonemia (29.4 μmol/L; reference range: 10–27 μmol/L) and low pyruvate (18 μmol/L; reference range: 20–100 μmol/L). Video electroencephalogram showed diffuse slow wave elevation, and cranial CT/MRI confirmed leptomeningeal capillary malformations with calcifications in the left occipital lobe (no cerebral atrophy). The patient was diagnosed with SWS type III based on clinical and imaging findings, and his symptoms were well-controlled with symptomatic treatment. This case highlights the importance of imaging modalities in diagnosing SWS type III in pediatric patients with non-specific neurological symptoms, and emphasizes the favorable prognosis of early-detected cases with short disease courses.

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