An infant with trichohepato-enteric syndrome: case report

This is the authors' abstract. We don't add key points for this paper.

length, occipito frontal circumference the 5thpercentile. pale, hypoactive, dehydrated with prominent forehead, sunken eyes, depressed nasal bridge, thin brittle hair, severe muscle wasting, patient a distended abdomen with hepatosplenomegaly and petechae over the chest and global developmental Initial investigations revealed hemoglobin 8g/dl, WBC 10,000 (neutrophils 40%, lymphocytes 51%, monocytes 6%), platelets 60,000, albumin 2 g/dl, electrolyte disturbances with hypokalemia and metabolic acidosis (HCO3 meq/dl) and mildly elevated liver function tests ABSTRACT Trichohepato-enteric syndrome (THE-S) is a disease characterized by severe infantile diarrhea, failure to thrive, facial dysmorphism, woolly hair, and immune or hepatic dysfunction. We report the case of a boy who presented in early infancy with chronic watery diarrhea, dependent on total parenteral nutrition, along with other features of THE-S.