Corectopia and lipoid proteinosis

SUMMARY Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of hyalinised material in the skin, mucous membrane, and brain. Corectopia has not been described in this disorder. A case is presented of lipoid proteinosis with bilateral corectopia. Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive genetic disorder characterised by hoarseness beginning in infancy and multiple lesions of mucous membrane and skin. ' The skin lesions are composed of hyalinised material and appear as clusters of white to yellow papules on the elbows, knees, axillae, perineum, and scrotum. Persons with lipoid proteinosis can present with psychomotor seizures. In some cases intracranial calcification of the hyalinised material has been documented within the hippocampal gyri.2 Ocular manifestations include papules along the lid margins and retinal drusen. To our knowledge pupillary abnormalities have never been reported in this dis-order. We report a case of lipoid proteinosis with bilateral corectopia. Case report A 32-year-old man was seen for complaints of bi-lateral monocular diplopia of two months ' duration. The patient had had a persistent hoarse cry from infancy. Psychomotor seizures began at the age of 16 years, and secondary generalised tonic-clonic seizures began at 21. The seizures were successfully controlled with carbamazepine (Tegretol). The patient had several episodes of rage reaction in which he would destroy objects valued by himself and his loved ones. There was no past history of meningo-encephalitis, hydrocephalus, stroke, or injury to the head. The patient was born of a full-term uncomp-licated pregnancy and delivery. Forceps were not used in the delivery. His parents are first cousins an