X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea.

M Di Rocco, R Marta - Archives of Disease in Childhood Fetal and …, 1996 - ncbi.nlm.nih.gov
M Di Rocco, R Marta
Archives of Disease in Childhood Fetal and Neonatal edition, 1996ncbi.nlm.nih.gov
At birth, the proband (1 4) had petechiae and a platelet count of 14000/mm3 (fig 1). A bone
marrow mination showed that the megakaryocytes were severely reduced in number. The
child also had widespread eczema from the first few days of life. The child had first been
admitted at the age of 2 months: his platelet count has been 12000/mm3, with an eosinophil
count of 800/mm 3, an IgG of 95 mg/dl, an IgM of 200 ml/dl, an IgA of 144 mg/dl, and an IgE
of 2132 U/ml. Lymphocyte numbers, CD4: CD8 ratio, glu-cose tolerance, urinary acids and …
At birth, the proband (1 4) had petechiae and a platelet count of 14000/mm3 (fig 1). A bone marrow mination showed that the megakaryocytes were severely reduced in number. The child also had widespread eczema from the first few days of life. The child had first been admitted at the age of 2 months: his platelet count has been 12000/mm3, with an eosinophil count of 800/mm 3, an IgG of 95 mg/dl, an IgM of 200 ml/dl, an IgA of 144 mg/dl, and an IgE of 2132 U/ml. Lymphocyte numbers, CD4: CD8 ratio, glu-cose tolerance, urinary acids and karyotypes were all normal. Soon after admission he developed diarrhoea which did not respond to total parenteral nutrition. At the age of 3 months, biochemical signs of parenchymal renal disease were detected. The parents refused further treatment and the child died shortly afterwards.
III 1 died at the age of 6 months as a result of intractable diarrhoea. Total parenteral nutrition led to glucose intolerance. At the age of 1 month IH 3 developed insulin dependent diabetes mellitus and diarrhoea; an intestinal biopsy specimen showed severe jejunal mucosal inflammation associated with infiltration of the lamina propria by lympho-cytes and plasma cells. Autoimmune enter-opathy was subsequently diagnosed. Despite treatment with steroids, cyclosporin, and total parenteral nutrition, he died at the age of 7 months as a result ofsevere hepatic dam-age and septic complications. 11 7 had had diarrhoea from the age of 45 days and normal glucose tolerance. Serum enterocyte autoantibodies and thyroid microsomal autoantibodies were detected and he was treated with cyclosporin, steroids, and total parenteral nutrition. He died at the age of 12 months.
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