Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis

The authors report a case of encephalocraniocutaneous lipomatosis (ECCL) in a female infant. Clinical manifestations in this case showed significative overlap with another neurocutaneous syndrome, namely oculocerebrocutaneous (OCC) Delleman's syndrome. This may support the theory of somatic mosaicism. The patient underwent a cerebrospinal fluid (CSF) shunt procedure due to marked tetraventricular hydrocephalus that was not present at birth. The need for close and multidisciplinary follow-up of these patients is stressed.