Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement.

The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

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A 2-year-old developmentally normal right-handed male child presented with multiple episodes of generalized seizures. On examination, he was observed to have large head (>97th centile) and bilateral dark-pigmented portwine stain over face, trunk, back, and arms [Figure 1]. There was no ocular evidence of glaucoma and there were no neurological deficits on examination with rest of the systemic examination being unremarkable. Magnetic resonance imaging brain [1.5 Tesla] [T1-weighted image] showed bilateral parietooccipital leptomeningeal enhancement along with hyperintensity in bilateral cortical sulci [Figure 2].

Figure 1

Figure depicts portwine staining in both sides of face and trunk

Figure 2

(a and b) Axial and coronal contrast-enhanced T1-weighted magnetic resonance image shows marked gyriform enhancement in the bilateral temporooccipital lobe with more marked involvement on left side

The Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement with an estimated incidence of 1 in 50,000 live birth.[1] Bilateral skin lesions occur in 20% cases, while bilateral cortical involvement has been reported in about 15% of cases and those with bilateral cortical lesions are associated with earlier onset seizure and poor neurodevelopmental outcome.[23] We present an unusual bilateral SWS with late onset seizure and relatively good intellectual outcome.

Most specific finding in SWS is leptomeningeal enhancement. Other neuroimaging findings include gyriform calcification, atrophy of ipsilateral hemisphere with ipsilateral choroid plexus enlargement.[4] These findings are consistent with the present case but with bilateral representation. The existing literature has not laid emphasis on the association of macrocephaly with SWS. There was a case report of an infant with a Sturge-Weber variant syndrome who developed progressive megalencephaly and eventual hydrocephalus, which required shunting possibly owing to impaired venous return.[5]

Although the development of our child was normal till age of 2 year and the seizures were well-controlled, we believe that further follow-up could reveal some subtle intellectual deterioration or evolution of epilepsy as is expected in children with bilateral SWS. Particular care must be exercised to ensure prolonged follow-up of children with bilateral SWS. The present case report highlights unusual presentation of SWS which includes presence of bilateral portwine nevus on trunk and face, bilateral leptomeningeal enhancement, late onset seizures, normal development, and progressive megalencephaly.