A differential diagnostic problem ?

Abstract

The authors describe a female patient with unilateral malformations of skin, cerebrum and eye. The symptoms consisted of local skin hypoplasia, skin appendages and lipomatous tissue; cysts, hypoplasia and lipomatosis of the brain; and ocular malformations. In the newborn period the symptoms led to the diagnosis of oculoeerebrocutaneous (OCC) syndrome. In the first year of life the clinical course deteriorated and the psychomotor development was progressively retarded. Evaluation at the age of 15 months prompted the authors to change the diagnosis to encephalocraniocutaneous lipomatosis (ECCL). The differential diagnosis of ECCL and OCC syndromes is discussed and a possible common pathogenetic pathway of these two rare disorders is proposed.

Key Words:

• encephalocraniocutaneous lipomatosis
• oculocerebrocutaneous syndrome
• brain cyst
• congenital malformations
• genetics
• lipomas
• skin hypoplasia