Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report

A 9-year-old boy with a history of lipoma excision and laminectomy at the T h10-11 levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for a comprehensive rehabilitation programme. Physical examina tion revealed an ipsilateral focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous tissue on the left temporo-parie tal region of the scalp. Iris coloboma and chorioretinitis were diagnosed o n the left eye He also had mild mental retardation and triparesis. Magnetic resonance imaging of the brain and the spine demonstrated hyperintense mas ses which were consistent with lipoma. Although in the literature three cas es of encephalocraniocutaneous lipomatosis (ECCL) concomitant with spinal c ord involvement have been reported, to our knowledge iris coloboma and chor ioretinitis in ECCL have not been reported previously. In conclusion, we wo uld like to stress that aside from known ophthalmological malformations, ir is coloboma and chorioretinitis may also be observed in ECCL and that all p atients who have been diagnosed as having ECCL should be examined for spina l cord involvement. (C) 2001 Elsevier Science B.V. All rights reserved.