Encephalocraniocutaneous Lipomatosis, A Rare Neurocutaneous Disorder: Report Of Additional Three Cases

    Ozan Koçak, Çoşkun Yarar, Kürşat Bora Çarman
    TLDR ECCL should be considered in patients with specific skin and eye lesions.
    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.
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