[Juvenile diabetes, tapeto-retinal degeneration, neurogenic hearing disorder (Alström syndrome), associated with congenital dyserythropoietic type III anemia].
The case is reported of a 32 year old female with diabetes mellitus, tapeto-retinal degeneration and neurogenous deafness combined with congenital dyserythropoietic anemia. The ophthalmological, otological, neurological and hematological findings are discussed and compared with those in the literature. Light microscopic and ultrastructural aspects of erythroblasts in congenital dyserythropoiesis of type III are shown. With the exception of the congenital dyserythropoietic anemia, the clinical findings cn be attributed to Alström syndrome.
D000328:Adult; D000740:Anemia / Q000151:congenital; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003930:Diabetic Retinopathy; D005260:Female; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D010375:Pedigree; D013577:Syndrome
Diabetes juvenilis, tapeto-retinale Degeneration, neurogene Schwerhörigkeit (Alström-Syndrom), assoziiert mit einer kongenitalen dyserythropoietischen Anämie Typ III