Original articleClinical features of Sturge–Weber syndrome without facial nevus: Five novel cases
Introduction
Sturge–Weber syndrome (SWS) is a neurocutaneous disease characterized by congenital unilateral port-wine nevus affecting the area innervated by the first sensory branch of the trigeminal nerve, ipsilateral leptomeningeal angiomatosis, and calcifications in the occipital or frontoparietal region.1
Clinical manifestations may include focal epilepsy with unilateral seizures, usually contralateral to the side of the facial nevus, intellectual impairment of variable degree, and hemiparesis or homonymous hemianopsia contralateral to the brain lesion.1 In some cases, ocular manifestations, such as glaucoma and buphthalmos, may also occur.2, 3, 4
SWS can be divided into three subtypes: type I (‘classical’ SWS with facial and leptomeningeal angioma), type II (facial angioma, with no endocranial involvement), and type III (with leptomeningeal angioma only). Only few of SWS type III have been thus far reported.5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16
We report five novel patients showing variable clinical appearance and compare their findings with those described in the literature (Table 1).
Section snippets
Patient 1
This 10-year-old girl was born at 32-weeks of gestation from healthy nonconsanguineous parents. Her motor and mental development was normal during the first year of life. At age 16 months the girl manifested a cluster of focal seizures characterized by right head and eyes deviation and unresponsiveness, lasting about 1 min each. No therapy was given. At age 5 years she came to our observation for weekly focal seizures featuring right head and eyes deviation, oromasticatory automatisms, and loss
Discussion
SWS is among the most important neurocutaneous syndromes with prominent vascular involvement of the cerebral nervous system.1 The clinical features of the classic SWS include epilepsy (75–90% of patients), mental retardation (50%), hemiplegia (30%), and glaucoma (30%). Typical neuroradiologic features of SWS include gyriform calcification in the posterior cerebral areas, brain focal atrophy, and enlargement of the choroid plexus on the side of the pial angioma. These abnormalities are better
Conclusion
SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Patients with SWS type III show heterogeneous clinical features, such as seizure disorder with a variable spectrum of seizure types or severity and frequent migraine-attacks. Some affected individuals may present with mild neurological and cognitive impairment.
Disclosure statement
The authors report no disclosures.
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2019, Pediatric NeurologyCitation Excerpt :The timing of the mutation during postconceptual fetal development determines the extent of involvement; the earlier the somatic mosaic mutation in progenitor cells, the greater the impact and the number of structures involved (brain, skin, and eye). When the somatic mutation occurs later in fetal development, after the structures have separated, a more limited involvement might occur as in isolated nonsyndromic port-wine birthmarks8 or isolated brain involvement without skin manifestation.9 Studies on disease pathogenesis could inform treatment strategies that specifically target the imbalance of the downstream signaling pathways hyperactivated by the GNAQ mutation.3
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2015, Seminars in Pediatric NeurologyCitation Excerpt :EEG anomalies in the form of high amplitude focal slow waves, multifocal or diffuse spikes and spike-and-waves complexes can be present in affected patients with or without a history of seizures.129-140 Brain imaging is distinctive135,140 and reveals prominent forehead with a large cranium-to-face proportion, megalencephaly with ventriculomegaly progressing to hydrocephalus, asymmetry of the ventricles (Fig. 10B) or the hemispheres (hemimegalencephaly), perisylvian or insular PMG, FCD, large cerebellum causing cerebellar tonsillar ectopia and crowding of the posterior fossa, thickened corpus callosum (CC), white matter irregularities with increased signal on T2-weighted images.70,73 The capillary malformation is most commonly seen both on central face (eg, nevus flammeus) and in the body, and less frequently on a single location.