Haberland and Perou (1970) reported a child with a novel neurocutaneous syndrome, encephalocraniocutaneous lipomatosis. He was a 5½-year-old boy who presented with neonatal seizures. Subcutaneous masses in the scalp and posterior aspect of the neck as well as abnormalities of the eyelid, sclera and face were noted. There was a protuberance of the skull. All of the lesions were unilateral. A pneumoencephalogram demonstrated a large porencephalic cyst ipsilateral to the skin lesions. The child was severely retarded and died at 5½years of age. At postmortem examination, abnormalities were limited to the central nervous system (see section on Pathology), skull and skin, except for the heart which showed excessive amounts of fat along the coronary sulcus and subepicardial patches of fat. The aortic and pulmonary cusps were myxomatous in consistency and the myocardium was infiltrated with adipose tissue.

Fishman et al. (1978) and Fishman (1987) subsequently reported three additional patients who closely resembled the initial patient reported by Haberland and Perou (1970). Their psychomotor skills were not as impaired as the previously reported patient. All had seizures. Unilateral soft tissue tumors of the scalp with overlying alopecia, ipsilateral tumors of the sclera and skin tags of the face and/or eyelids were present in everyone. Neuroimaging revealed ipsilateral cerebral hemiatrophy, porencephaly, defective opercularization, and two of the three had parenchymal calcifications and calcified vascular lesions.

Sanchez et al. (1981) reported another patient with encephalocraniocutaneous lipomatosis, who had very similar findings and clinical picture to the previously reported cases.