Sturge Weber Syndrome

STURGE WEBER SYNDROME

  • Also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve.
  • Cutaneous manifestations
  • The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain ,which is present in as many as 96% of patients and is visible at birth.

Neurological manifestations

  • The neurological manifestations of SWS vary, depending on the location of the Leptomeningeal Angioma(which most commonly are located in the parietal and occipital regions) and Choroidal Angioma and the secondary effects of the angiomas.
  • These neurological morbidities include the following:
  • Seizures - Focal or generalized (seen in upto 85 % of cases)
  • Hemiparesis and hemisensory disturbance
  • Contralateral homonymous hemianopia
  • Headaches
  • Developmental disorders - Including developmental delay, learning disorders, and mental retardation/intellectual disability(seen in around 60 % of cases).
  • Gyriform calcification in the brain associated with ipsilateral cortical atrophy frequently develop.

Ophthalmic manifestations

  • The primary complications involving the ipsilateral eye are buphthalmos and glaucoma.

Others:

  • Adrenal pheochromocytoma is also seen.

X ray of skull shows: "Tramline" intracranial calcification, especially in the parieto-occipital region.

CLASSIFICATION OF STURGE WEBER SYNDROME

The Roach Scale is used for classification::

  • Type I - Facial and leptomeningeal angiomas; patient may have glaucoma
  • Type II - Facial angioma alone (no CNS involvement); patient may have glaucoma
  • Type III - Isolated LA; usually no glaucoma

Exam Question

  • Rail-road calcification in the brain are found characteristically in Sturge weber syndrome.
  • The most probable diagnosis in a child who has got a vascular plaque like lesion over the lateral aspect of forehead mainly involving ophthalmic and maxillary division of trigeminal nerve. which has remained unchanged since birth and he is also on valproate for seizure disorder is Sturge weber syndrome.
  • A neonate has a large, purplish, slightly raised lesion on the skin of the forehead near the temporal area. As the child grows, the lesion grows as well and becomes increasingly prominent. This lesion may be a component of Sturge weber syndrome.
  • Mental retardation(60% cases), Seizure (upto 85 % cases) and Rail road track appearance is seen in Sturge Weber Syndrome.
  • Diffuse choroidal hemangioma may be seen in upto 40% of the cases in Sturge Weber Syndrome.
  • Sturge Weber Syndrome is characterised by nevus flammeus.
  • Sturge Weber's syndrome is associated with ,Seizures,Hemiatrophy of cerebral cortex and Gyriform calcification in brain.
  • The most likely diagnosis is a case of intractable convulsions mental defect and facial nevus is Sturge weber syndrome..
  • Pheochromocytoma is associated with following familial syndromes :
  • MEN syndrome type 2A & type 2B ,Von Recklinghausen (Neurofibromatosis type I) ,Von Hippel lindau syndrome, Sturge weber Syndrome, Familial paraganliomas 1,2, & 3.
  • Sturge Weber Syndrome is not associated with brain tumors.
  • Large haemangioma of lid and cheek along with glaucoma is seen in Sturge Weber Syndrome.
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