CASE 1230 Published on 01.01.2002

CT and MR patterns of Sturge-Weber syndrome

Section

Neuroradiology

Case Type

Clinical Cases

Authors

V. Goncalves, P. Schnyder, M. Wintermark

Patient

3 years, male

Categories
No Area of Interest ; Imaging Technique CT, MR
Clinical History
Left naevus flammeus and neurological symptoms in a 3-year-old male child.
Imaging Findings
A 3-year-old male child presented with a left facial naevus flammeus. The patient demonstrated convulsive seizures and right upper and lower limb weakness.
Discussion
Sturge-Weber syndrome is a neurocutaneous disease or phakomatosis, with an incidence of 1/50,000. It includes "port-wine" naevus flammeus confined to a unilateral trigeminal nerve territory, as well as choroidal and leptomeningeal angiomatosis, the latter being typically limited to one hemisphere, ipsilateral to the cutaneous lesions. Most lesions involve the occipital and parietal lobes. In rare cases, a pheochromocytoma may be associated.

Unlike other phakomatoses, Sturge-Weber syndrome has no genetic basis. The pathophysiological basis is hypothesised to relate to a developmental failure of the superficial cerebral veins, leading to stasis, hypoxia and subsequent formation of abnormal leptomeningeal vascular channels.

In addition to its cutaneous manifestations, Sturge-Weber syndrome clinically features buphtalmos and/or glaucoma, seizures, focal neurological failures and mental retardation. Neuroradiological findings include leptomeningeal enhancement, cortical atrophia with enlarged adjacent subarachnoid spaces, "tram-track" gyriform calcifications (68%), enlarged and calcified choroidal plexus, enlarged facial air spaces and mastoid cells, and choroidal angiomatosis (53%).

Differential Diagnosis List
Sturge-Weber syndrome
Final Diagnosis
Sturge-Weber syndrome
Case information
URL: https://www.eurorad.org/case/1230
DOI: 10.1594/EURORAD/CASE.1230
ISSN: 1563-4086

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