[Fulminant coma: think hyperammonemia and urea cycle disorders]

The authors report the case of 14-year-old boy admitted for acute coma without neurological focal symptom. The only relevant finding was the death of one uncle after a coma in the year 1992. This coma was associated with an ammonia blood level of 344 mumol l-1 and it rapidly lead to cerebral death despite a symptomatic treatment. The diagnosis of hereditary ornithine transcarbamylase deficiency was confirmed by liver biopsy in the immediate post-mortem period. The authors recommend the measurement of blood ammonia in every coma without diagnosis, whatever patient's age.