Encephalocraniocutaneous lipomatosis
Overview
ECCL is a rare, sporadic, neurocutaneous syndrome with no predominant gender, racial, or geographical association. The genetic mechanism has been hypothesized to involve lethal autosomal dominant genes that survive by mosaicism, and the pathogenesis is most likely a dysgenesis of the cephalic neural crest and anterior neural tube
Symptoms
ECCL is characterized by unilateral abnormalities of the brain, eyes, and skin. The most common neurological findings are hemiatrophy, dilated ventricles, porencephalic cysts, abnormal calcifications, intracranial lipoma, and cranial asymmetry. Most patients present with seizures and mental retardation
Diagnosis
The diagnosis of ECCL may be difficult because of the overlapping features with other neurocutaneous syndromes. Patients with oculocerebrocutaneous syndrome (Delleman's syndrome) have similar lesions of the eyes and scalp, but also present with a pathognomonic mid-hindbrain malformation. Other syndromes, like Sturge-Webber syndrome and Proteus syndrome, have neurological features similar to ECCL, although the cutaneous malformations are very different.