It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome cams. Physical and family history variables associated with neurological and cognitive development in sturge weber syndrome.
Review of literature with case illustration romanian neurosurgery vol.
Tram track sturge weber syndrome. In patients with sturge weber syndrome x ray ﬁndings in the skull usually show a tram track pattern of calciﬁcation that is caused by calciﬁcation in opposing gyri on either side of an intervening dilated sulcus. 1 a case of 55 year old man with first ever generalized seizure diagnosed with sturge weber syndrome type iii by characteristic mri findings. Sturge weber syndrome sometimes referred to as encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder.
It is one of the phakomatoses and is often associated with port wine stains of the face glaucoma seizures intellectual disability and ipsilateral leptomeningeal angioma. Outcome of sturge weber syndrome in 52 adults. Sujansky e conradi s.
Sturge weber syndrome can be classified into three different types. Sturge weber syndrome sws also known as encephalotrigeminal angiomatosis is a rare neurocutaneous syndrome characterized by a facial capillary vascular malformation a port wine stain pws with ipsilateral leptomeningeal angiomas lma. The hallmark of sws is a facial cutaneous veno.
It may or may not be associated with ipsilateral glaucoma 1. The hallmark is an intracranial leptomeningeal vascular angioma in association with a port wine nevus usually involving ophthalmic or maxillary distribution of trigeminal nerve. Intracranial calciﬁcation a common radiologic manifestation.
Am j med genet. Sturge weber syndrome sws is a rare sporadically occurring neurocutaneous disorder with a frequency of approximately 1 per 50 000. This stain is a birthmark caused by an overabundance of.
Sturge weber syndrome or encephalotrigeminal angiomatosis is a phakomatosis characterized by facial port wine stains and pial angiomas. The clinical and radiographic features were diagnostic for sturge weber syndrome a congenital neurovascular disease resulting from somatic mutations in the gnaq gene characterized by a port wine stain involving the ophthalmic branch of the trigeminal nerve territory and ipsilateral leptomeningeal angiomatosis causing gyriform calcifications cerebral hemiatrophy along with compensatory. Open in read by qxmd.
Day am mcculloch ce hammill am et al. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal. Sturge weber syndrome sws also called encephalotrigeminal angiomatosis is a neurocutaneous disorder with angiomas that involve the leptomeninges leptomeningeal angiomas las and the skin of the face typically in the ophthalmic v1 and maxillary v2 distributions of the trigeminal nerve.
Sturge weber syndrome sws is a neurological disorder marked by a distinctive port wine stain on the forehead scalp or around the eye.