A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.
BACKGROUND
Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications.


METHODS
Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis.


CONCLUSIONS
We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.
Department of Pediatrics, Çukurova University School of Medicine, Adana, Turkey.
Habibe Koç
HK
Uçar
Department of Pediatrics, Çukurova University School of Medicine, Adana, Turkey.
Gökhan
G
Tümgör
Department of Pediatrics, Çukurova University School of Medicine, Adana, Turkey.
Deniz
D
Kör
Department of Pediatrics, Çukurova University School of Medicine, Adana, Turkey.
Fatih
F
Kardaş
Department of Pediatrics, Çukurova University School of Medicine, Adana, Turkey.
Neslihan Önenli
NÖ
Mungan
Neurologic crisis; pancreatitis; tyrosinemia type I