Sturge–Weber syndrome: report of an unusual cutaneous distribution

doi:10.1016/S0387-7604(98)00067-9

Brain and Development

Volume 21, Issue 1, January 1999, Pages 68-70

https://doi.org/10.1016/S0387-7604(98)00067-9 Get rights and content

Abstract

This is an 11 month old girl who has been referred to our institute for a seizure disorder. Her physical examination showed angiomas on the left side of her face, and more extensive and prominent ones on her palms and soles. Her right face and arm were smaller than the left, associated with hypotonia and moderate weakness in the right forearm. Computerized tomography of head showed intracranial calcification in the left fronto-parietal region, and brain MRI, with gadolinium, revealed an extensive leptomeningeal angioma over the entire left hemisphere. This case was diagnosed as Sturge–Weber syndrome with unusual cutaneous manifestations.

Introduction

Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by a leptomeningeal angioma overlying the cerebral cortex and a facial capillary angioma, that is usually ipsilateral to the cerebral angioma [1]. The cutaneous manifestation is the more striking feature of this syndrome and can be readily recognized on physical examination. Sometimes a more extensive or variable distribution of the skin lesion can create difficulty in making the diagnosis.

Recently, we encountered an unusual case of SWS, with an extensive extra-facial distribution of the cutaneous lesion.

Section snippets

Case report

The patient was the product of a full-term, uncomplicated pregnancy and delivery. Cutaneous angiomas were noted on her face, pubis and extremities immediately after birth. Otherwise she was normal. At 2 months of age she had her first seizure, with a focal onset in the right arm with secondarily generalization, without fever. Despite anticonvulsant therapy, she had frequent seizures until she was 9 months of age. Her mother had also noted that, since 4 months of age, she was not using her right

Discussion

The clinical diagnosis of SWS is usually straightforward. However, in mild cases, and in infants, less than 1 year of age, the diagnosis of the syndrome may be delayed due to incomplete clinical and radiological manifestations 2, 3, 4. As in all other neurocutaneous syndromes, the cutaneous findings are one of the most important and early features of SWS. Although the absence of the facial angioma does not preclude the diagnosis of SWS, (forme fruste), the cutaneous hemangioma appears to be the

Acknowledgements

The authors would like to thank to Dr. Naim Haddad for taking the pictures of the patient.

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Sturge–Weber syndrome: a report of 22 cases
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There are more references available in the full text version of this article.

Cited by (12)

Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome
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Citation Excerpt :
Progressive course of SWS in early childhood is marked by extremely variable clinical manifestations which include seizures, epilepsy, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects [3]. Facial port-wine stain (PWS; MIM#163000), a common congenital vascular lesion caused by progressive ectasia of vascular plexus of the dermis affecting the upper parts of the face, is considered a risk factor for SWS and is detected in 87–90% of the SWS cases [4,5]. Specific facial patterns indicating an increased risk for SWS in children with upper facial PWS were reported by Dutkiewicz et al. in a prospective study and included specific localization and distribution pattern of PWS involving the midline crossing, nasal area, temporal area, and scalp [5].
Somatic activating mutations in the GNAQ have been recently associated with several congenital genetic disorders and tumors; however, the molecular mechanism/etiology that leads to GNAQ somatic mosaic mutation are unknown. Here, we reported a case of Sturge-Weber Syndrome (SWS) manifesting cutaneous vascular malformations (hemifacial Port-wine stain), cerebral and ocular vascular abnormalities (including epilepsy and glaucoma) and harboring a c.548G > A (p.R183Q) somatic mosaic mutation in GNAQ. Computational modeling studies were performed to assistant with the comprehension of the functional impact of p.R183Q and p.Q209L mutations in GNAQ, which encodes a G protein subunit alpha q (Gαq). The p.R183Q mutation was predicted to abolish hydrogen bonds between R183 residue and GDP molecule, destabilizing the inactive GDP-bound conformation of the Gαq mutants. Furthermore, replacement of R183 by Q183 residue was predicted to promote conformation changes in protein surface features affecting the switch I region, a key region that undergoes conformational changes triggered by receptor binding during signal transduction. In addition, replacement of Q209 by L209 residue was predicted to affect the molecular interaction between Gαq and Gβ subunit, impairing formation of the inactive heterotrimeric complex. These findings, in association with PPI network analysis, indicate that p.R183Q and p.Q209L mutations result in the over-activation of different downstream effectors, which in turn will determine the distinct cell responses and phenotype. These findings bring new insights on molecular etiology of vascular malformations associated to SWS and on different mechanisms underlying hyperactivation of downstream pathways to Gαq.
Sturge-Weber syndrome - A case report
2015, Journal of Oral Biology and Craniofacial Research
Citation Excerpt :
This might be because of the young age of the child or the slow progression of angiomas towards the cortical areas. The choroidal hemangioma causes increased secretion of aqueous humor which in turns causes increased intra ocular tension & causes buphthalmos and glaucoma.7 Glaucoma, exudative retinal detachment (ERD) and heterochromia iridis may be present in 30–70% as ophthalmic manifestation.8
Sturge–Weber syndrome (SWS), also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological disorder & frequent among the neurocutaneous syndromes specifically with vascular predominance. This disorder is characterized by facial capillary malformation & other neurological condition. The oral manifestations are gingival hemangiomatosis restricting to either side in upper and lower jaw, sometimes bilateral. We report a case of SWS with oral, ocular and neurological features.
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Clinico-radiological approach to cerebral hemiatrophy
2018, Child's Nervous System
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?
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Case reportSturge–Weber syndrome: report of an unusual cutaneous distribution

Abstract

Introduction

Section snippets

Case report

Discussion

Acknowledgements

Diagnosis and management of neurocutaneus syndromes

Semin Neurol

Sturge–Weber syndrome: a report of 22 cases

Chin Med J

Case report
Sturge–Weber syndrome: report of an unusual cutaneous distribution