Case report
Sturge–Weber syndrome with cerebellar involvementSyndrome de Sturge-Weber avec atteinte cérébelleuse

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Summary

Sturge–Weber syndrome is a rare neurocutaneous disorder that typically presents with angiomas involving the face, ocular choroid and ipsilateral supratentorial leptomeninges. Posterior fossa involvement is extremely rare. We present two patients with simultaneous supra- and infratentorial involvement. Magnetic resonance imaging (MRI) and digital subtracted angiography (DSA) findings are discussed.

Résumé

Le syndrome de Sturge-Weber est un désordre neurocutané rare caractérisé par des angiomes intéressant le visage, l’orbite et les méninges à l’étage supratentoriel homolatéral. L’atteinte de la fosse postérieure est extrêmement rare. Nous rapportons deux patients présentant une atteinte simultanée supra- et infratentorielle. Les données de l’imagerie par résonance magnétique (IRM) et de l’angiographie numérisée soustraite sont discutées.

Introduction

Sturge–Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare neurocutaneous congential disorder of uncertain inheritance [1] with an estimated incidence of one in 50,000 births [2]. SWS is believed to result from the absence of a normal superficial cerebral venous drainage [3].

SWS is characterized by angiomas involving the facial skin, typically in the distribution of the ophthalmic and/or maxillary nerve, ocular choroid and leptomeninges. Although diagnosed clinically by the association of a facial nevus with neurologic features such as seizures, hemiparesis, mental retardation or homonymous hemianopsia, intracranial involvement can only be determined by neuroimaging. Magnetic resonance imaging (MRI) is considered to be highly sensitive and specific. Imaging may reveal characteristic findings including pial and/or cortical enhancement, prominent deep draining intramedullary veins, choroid plexus hyperplasia, cortical calcifications and progressive cortical atrophy on follow-up [3], [4], [5]. Leptomeningeal angiomatosis (LA) typically involves one cerebral hemisphere, ipsilateral to the facial nevus. Up to 15% of children have bilateral cerebral involvement/disease [6]. Involvement of the cerebellum is extremely rare. We present two cases of SWS with diffuse LA involving the supra- and infratentorial brain.

Section snippets

Case reports

The first patient is a nine-year-old boy presenting with a large port-wine birthmark involving the left face, neck, upper chest and shoulder; headaches; seizures and left eye glaucoma. MRI showed an ipsilateral occipital and temporal LA combined with a mild atrophy. The left choroid plexus was enlarged. Dilated vessels were seen along the left middle cerebellar peduncle and trigonum of the lateral ventricle (Fig. 1A). To rule out a possible arteriovenous malformation, digital subtraction

Discussion

SWS is characterized by angiomas involving the face, ocular choroid and leptomeninges. SWS is believed to occur early in fetal life, between the fourth and eight week of gestation and results from failure of embryonic cortical veins to coalesce and develop. Consequently, the precirculatory plexus of primordial vessels persists. The close association between the ectoderm destined to become the skin of the face and the dorsal telencephalic vesicles programmed to become the occipital and

Conclusion

LA in SWS is typically unilateral and supratentorial. Our cases showed that simultaneous involvement of the supra- and infratentorial brain might occur. Contrast enhanced MRI is the standard imaging modality. DSA is no longer utilized routinely. However, in rare cases such as illustrated in this report, DSA may better depict the nature and exact extent of vascular involvement and may facilitate our understanding of the pathophysiology of SWS.

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Cited by (6)

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    Intracortical calcifications and enlarged intramedullary veins are best seen on susceptibility-weighted MRIs. Simultaneous supra- and infratentorial involvement, including cerebellar leptomeningeal angiomatosis, atrophy, and developmental venous anomalies, are seen in up to 40% of patients.59,60 Only a few DWI and DTI studies in SWS have been reported.

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