A rare case of SCALP syndrome presenting with progressive hydrocephalus and refractory epilepsy successfully treated with ventriculoperitoneal shunting

Vollständiger Abstract

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SCALP syndrome is an exceptionally rare neurocutaneous disorder characterized by sebaceous nevus, central nervous system malformations, Aplasia cutis congenita, limbaldermoid, and pigmented nevus. Neurological manifestations are variable, and severe hydrocephalus requiring neurosurgical intervention has rarely been reported. A 4-year-old girl with developmental delay, epilepsy, and progressive macrocephaly presented with status epilepticus. Seizures were controlled with intravenous levetiracetam and fosphenytoin. Examination revealed a sebaceous nevus over the nape of the neck, multiple areas of aplasia cutis congenita, a left limbaldermoid, and giant congenital melanocytic nevi involving the face and abdomen. Magnetic resonance imaging (MRI) of the brain demonstrated severe communicating hydrocephalus with marked dilatation of all ventricles and diffuse cerebral parenchymal thinning. The constellation of dermatological, ocular, and neurological findings was consistent with SCALP syndrome. The child underwent ventriculoperitoneal shunt placement, following which head circumference decreased by 2 cm at one-month follow-up, with no further seizures. This case highlights severe communicating hydrocephalus as a potentially reversible neurological manifestation of SCALP syndrome. Recognition of its characteristic cutaneous features should prompt early neuroimaging and multidisciplinary evaluation. Timely neurosurgical intervention may prevent neurological deterioration and improve clinical outcomes in affected children.