A down syndrome patient with celiac disease

Abstract

The association between Down Syndrome and autoimmune disease and congenital anomalies of the gastrointestinal tract is well established. The authors present a five year, old patient. The clinical diagnosis of Down Syndrome was confirmed by karyotyping (47, XY, +21). He was suffering from diarrhea. Both his height and weight were below the 3rd percentile. Hypopigmented lessions in accordance with vitiligo in the hands and feet and alopecia were observed. Laboratory tests revealed macrocytic anemia, third degree rickets, polyclonal gammopathy and prolonged protrombin time. On small bowel series organoaxiel malrotation in the stomach was seen. The small bowel biopsy showed villus atrophy referring to gluten entheropathy. The antigladin antibodies were found significantly elevated. Diarrhea was improved with gluten free diet. This case with Down Syndrome was reported because rickets, gastrointestinal tract abnormalities and vitiligo accompanied Celiac disease.