Encephalocraniocutaneous Lipomatosis, A Rare Neurocutaneous Disorder: Report Of Additional Three Cases
May 2015
in “
European Journal of Paediatric Neurology
”
Studysummary This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.
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The document reported three additional cases of Encephalocraniocutaneous lipomatosis (ECCL), a rare congenital neurocutaneous disorder characterized by unilateral skin lesions, ocular and cerebral malformations, and early-onset seizures. The cases included a 15-year-old girl with severe psychomotor retardation and a history of generalized tonic-clonic seizures, a 5-year-old boy with refractory epilepsy and inability to walk or speak, and a 1.3-year-old boy with secondary generalized seizures and inability to walk but able to crawl. All patients exhibited unilateral left-sided alopecia, ipsilateral ocular lesions, and cerebral lesions, with right-sided mild to moderate hemiparesis. The study emphasized the importance of examining patients with ocular and ipsilateral skin lesions for ECCL.
