A challenging case of hereditary type 1 tyrosinaemia associated with persistent diarrhoea: Case report and literature review

Abstract

Hereditary tyrosinaemia type 1 (HT1) is a rare inherited genetic disorder attributed to deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). HT1 may present with diarrhoea in its acute form. We report on a 2.5-year-old Egyptian girl diagnosed with HT1. At the age of 1 year and 9 months, the patient started to have persistent diarrhoea with marked abdominal distension, anorexia and irritability, and with no fever or vomiting. At the onset of diarrhoea, liver synthetic functions deteriorated and ascites progressed, requiring frequent paracentesis. These manifestations did not improve after starting specific treatment for HT1 (2-(2-nitro-4-trifluoromethylbenzoyl)- 1,3-cyclohexanedione) (NTBC). Coeliac disease was diagnosed; this disorder was not previously reported as having an association with HT1.