ISSN : 2146-3123
E-ISSN : 2146-3131

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I
Habibe Koç Uçar 1, Gökhan Tümgör 1, Deniz Kör 1, Neslihan Önenli Mungan 1, Fatih Kardaş 2
1Department of Pediatrics, Çukurova University School of Medicine, Adana, Turkey
2Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey
DOI : 10.5152/balkanmedj.2016.141074
Pages : 370-372

Abstract

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.

Case Report: 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.

Conclusion: 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.

Keywords : Neurologic crisis, pancreatitis, tyrosinemia type I
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