Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A Case Report and Review of Literature
A five year old girl born at term to non consanguineous parents after an uncomplicated delivery was brought by her parents with a complaint of right sided seizures since four years. On examination the child had frontal and parietal bony prominences on the right side along with a 13 × 6 cm smooth, soft, flat area of alopecia on the scalp. Soft nodular skin lesions were seen on right upper lid and periorbital area. Reddish nodular lesion at limbus encroaching onto cornea suggestive of limbal Dermoid, reddish lesion on bulbar conjunctiva suggestive of epibulbar Dermoid and coloboma of right upper lid were also noted []. Fundus examination showed myopic fundus on right side. Cardiovascular and respiratory system examinations were normal. Higher intellectual functions were normal on Central nervous system examination.\nA plain non contrast computerized tomography (CT) scan and MRI of the brain showed dilatation of right ventricle, cortical dysplasia over right frontal lobe, a porencephalic cyst, cortical gyriform calcification of the right parietal lobe and occipital lobes [Figure and ]. The histopathology examination of the alopecic area of the scalp showed absence of hair follicles, focal dermal fibrosis, and increased amounts of subcutaneous fat extending into the upper reticular dermis []. The nodular lesion on the eyelid submitted for histopathological examination showed a hamartoma made of disorganized elements of fibrous and adipose tissue [].