Autoimmune enteropathy in Schimke immunoosseous dysplasia.
The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea. The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.
Kaitila
I
I
Department of Clinical Genetics, Helsinki University Central Hospital, Finland. ilkka.kaitila@huch.fi
Savilahti
E
E
Ormälä
T
T
D001327:Autoimmune Diseases / Q000235:genetics* / Q000473:pathology; D002544:Cerebral Infarction / Q000235:genetics; D002675:Child, Preschool; D005767:Gastrointestinal Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D051437:Renal Insufficiency / Q000235:genetics / Q000473:pathology