(CR22) Encephalocraniocutaneous Lipomatosis – A Rare Syndrome to Consider When Dealing with Congenital Eye Mass

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a congenital neurocutaneous disorder characterized by cutaneous, ocular and central nervous system (CNS) manifestations. Case Report/Description: A 1-year-4-month-old child presented with left eye limbal dermoid cyst since birth. The child was born term after an uneventful delivery. Alopecia was noted on physical examination. A plain and contrasted Computed Tomography (CT) scan of the brain showed left anterior periorbital eye lesion and a left retrobulbar lesion which causes expansion of left orbital cavity extending into the left cavernous sinus. Another extra-axial left frontal lesion which insinuates between the cerebral sulci with adjacent thickened cortex was noted. Magnetic Resonance Imaging (MRI) of the brain and orbit confirmed these lesions to be lipomatous with features of left frontal polymicrogyria. Discussion/Conclusion: ECCL is a rare congenital but nonhereditary neurocutaneous syndrome represented by unilateral ocular, skin lesions and ipsilateral cerebral malformations. These children may have normal or delayed development, normal intelligence, seizures or mental retardation. Ocular anomalies include epibulbar dermoid, corneal, scleral and anterior chamber abnormalities. Skin lesions include nonscarring alopecia and subcutaneous lipomas. CNS malformation consists of abnormal cerebral cortex, intracranial lipomas and cysts. Our patient had alopecia, left eye limbal dermoid cyst with ipsilateral intracranial lipomas and cortical dysplasia, all findings leading to the diagnosis of ECCL. ECCL occurs due to sporadic mutation and when diagnosed correctly based on the constellation of ocular, cutaneous and CNS findings, parents can be counselled regarding the non-inheritable nature of this condition