Encephalocraniocutaneous lipomatosis: case report and review of the literature.
OBJECTIVE
Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present.


METHODS
To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature.


CONCLUSIONS
Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.
Almer
Zina
Z
Department of Opthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.
Vishnevskia-Dai
Victoria
V
Zadok
David
D
D001927:Brain Diseases / Q000150:complications; D002828:Choristoma / Q000150:complications; D002658:Developmental Disabilities / Q000150:complications; D005128:Eye Diseases / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008068:Lipomatosis / Q000150:complications / Q000151:congenital*; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000151:congenital*; D012871:Skin Diseases / Q000150:complications; D013118:Spinal Cord Diseases / Q000150:complications