Tricho- Entero- Hepatic Syndrome, Report of Four Members of a Family, First Report From Iran

Intractable diarrhea of infancy (IDI) includes several types of early onset diarrhea, one of the rare etiologies is Tricho-Hepato-Enteric (THE) syndrome, also known as syndromic diarrhea (SD) which was primarily described by Stankler et all, in two siblings, presenting with diarrhea, failure to thrive, abnormal facies and unusual hair. Hereby we report a family with several affected members which to our knowledge is the first case report from Iran. Report of Cases:A three year old boy referred with short stature, poor weight gain and intermittent steatotic diarrhea to our center. He was born to healthy, relative parents (cousins).He was breastfed and experienced normal growth for the first 4 months but he did not gain any weight afterwards and began having intermittent steatotic diarrhea, abdominal distension, fever and was hospitalized several times. Two other children in the family also showed somewhat similar symptoms. Stool exam show intermittent positive result for fat. Stool trypsin activity test was normal. Two-time sweat test was negative for cystic fibrosis. Multiple testing for Anti TTG showed variable results although most show mild elevation. Gluten free diet was tried several times but was not effective. Immunogenetic testing for DQ2 and DQ8 were negative. Workup for Hirschsprung’s disease (due to abdominal distention) was performed at 21 months of age, but colon was ganglionic. Abdominal sonography at 1.5 years of age showed coarse and non homogeneous echo of liver. Alanine aminotrasferase (ALT) and Aspartate aminotransferase (AST) were mildly elevated. Microscopic examination of duodenal mucosa revealed mild to moderate shortening of villi, focal superficial epithelial changes, crypt architectural changes and moderate chronic inflammation. Discussion:Tricho-entero-hepatic syndrome should be in mind in cases of intractable diarrhea presenting in a family with several affected members. Early diagnosis would save patients from unnecessary workups.

کلیدواژه ها:

Tricho- Entero- Hepatic Syndrome ، Pediatric ، Diarrhea ، Histopathological Finding