Which syndrome is characterized by facial port-wine stain and leptomeningeal angiomatosis with possible seizures?

Which syndrome is characterized by facial port-wine stain and leptomeningeal angiomatosis with possible seizures?

• A. Osler-Weber-Rendu syndrome
• B. Sturge-Weber syndrome
• C. Klippel-Trenaunay syndrome
• D. Von Hippel-Lindau disease

Answer: (B)

Sturge-Weber syndrome is a neurocutaneous disorder where abnormal capillary-venous malformations involve the leptomeninges, typically over the occipital and parietal lobes, leading to cortical irritation, atrophy, and seizures. The facial port-wine stain in the trigeminal distribution reflects the same vascular malformation in the skin. This association—facial capillary malformation plus leptomeningeal angiomatosis with possible seizures—is characteristic. The condition is usually nonhereditary and results from a somatic mosaic mutation (often in GNAQ). Imaging can show tram-track calcifications along the cortex and corresponding atrophy. In contrast, the other syndromes describe different vascular or tissue abnormalities without this specific combination of facial port-wine stain and leptomeningeal angiomatosis.

Sturge-Weber syndrome is a neurocutaneous disorder where abnormal capillary-venous malformations involve the leptomeninges, typically over the occipital and parietal lobes, leading to cortical irritation, atrophy, and seizures. The facial port-wine stain in the trigeminal distribution reflects the same vascular malformation in the skin. This association—facial capillary malformation plus leptomeningeal angiomatosis with possible seizures—is characteristic. The condition is usually nonhereditary and results from a somatic mosaic mutation (often in GNAQ). Imaging can show tram-track calcifications along the cortex and corresponding atrophy. In contrast, the other syndromes describe different vascular or tissue abnormalities without this specific combination of facial port-wine stain and leptomeningeal angiomatosis.