title: A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure.
abstract: We describe a Chinese family with three siblings, all females, presenting with the Wolfram Syndrome. All three cases had almost similar clinical presentation of insulin-dependent diabetes mellitus, with rapid development of severe renal and retinal complications. Two siblings died at age thirty and thirty-one years of end-stage renal failure. All three cases had visual symptoms since early childhood progressing rapidly to loss of vision. Two of the three siblings had severe diabetic retinopathy requiring laser photocoagulation. These presentations are in contrast to most reported cases of the Wolfram syndrome where advanced diabetic eye complication is a rare feature. We also present several features present in one of the siblings, viz., microcephaly, microstomia, clinodactylyl, brachydactylyl, empty sella syndrome and severe hypoplasia of the right internal carotid vessels associated with mild narrowing of the left internal carotid artery which have not been previously described.
authors.affiliation: Department of Medicine, National University Hospital, Singapore.
authors.forename: M C
authors.initials: MC
authors.lastname: Lim
authors.forename: A C
authors.initials: AC
authors.lastname: Thai
mesh_terms: D000328:Adult; D000367:Age Factors; D002681:China / Q000208:ethnology; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000178:diet therapy / Q000188:drug therapy; D003930:Diabetic Retinopathy / Q000150:complications / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D006973:Hypertension / Q000188:drug therapy; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D009896:Optic Atrophy / Q000235:genetics; D010375:Pedigree; D012846:Singapore; D014929:Wolfram Syndrome / Q000150:complications / Q000473:pathology*