Corectopia and lipoid proteinosis.

Abstract

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 disorder. We report a case of lipoid proteinosis with bilateral corectopia. Case reportA 32-year-old man was seen for complaints of bilateral 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 meningoencephalitis, hydrocephalus, stroke, or injury to the head. The patient was born of a full-term uncomplicated pregnancy and delivery. Forceps were not used in the delivery. His parents are first cousins and

Lipoid Proteinosis (Urbach-Wiethe Disease)

“…The routine laboratory data were all normal, and they were in accordance with previous reports [5, 6, 16]. Biochemical analyses on biopsied material showed different concentrations of mucopolysaccharides in the two isolated fractions (soluble and insoluble or membrane-bound), such as sialic acid and hexosamine levels, which were different between membrane-bound glycoprotein and soluble glycoprotein.…”

“…It starts in early childhood, and common findings are the deposition of plaques on the mucous membranes, and eruptions on the face and extensor surfaces of the skin [3]; ocular manifestations include papules along the lid margins [4]as well as retinal drusen [5], and, more recently, bilateral corectopia [6]and dry eye syndrome [7]have been observed (table 1). The distribution of the lesions and their chronic nature are considered pathognomonic.…”

Is it always blepharitis? Urbach–Wiethe syndrome (lipoid proteinosis)

“…Less common lid lesions are infiltration of the glands of Zeiss, Moll, and Meibomian causing madarosis and trichiasis, and other ocular features, such as glaucoma and conjunctival nodules, may also be present (8) . Retinitis pigmentosa, bilateral uveitis, and korektopia (9) have also been reported in the literature.…”

Síndrome de Urbach-Wiethe: relato de caso

“…Depósitos hialinos também são encontrados em conjuntiva, córnea, trabeculado e retina. Pode haver perda de sobrancelhas associada (2,9) e há relatos de apresentações com corectopia (18) e uveíte (9) presentes, levando à diminuição da função visual; • Cavidade oral: papilas na língua, lábios e gengivas; endurecimento e diminuição de mobilidade da língua (8) hipoplasia ou aplasia dentária; • Vias aéreas superiores: envolvimento da laringe e cordas vocais pode causar dificuldade respiratória e afonia (6,8,10) ; • Sistema nervoso central: calcificações em "forma de feijão" nos lobos temporais (19) podem estar associadas a seqüelas neurológicas, como crises convulsivas, ataxia, psicose (20) , com seqüelas psiquiátricas e psicológicas, mas ainda sem correlação direta (10) . O diagnóstico é confirmado através de biópsia cutânea.…”