A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Habibe Koç UÇAR; Gökhan TÜMGÖR; Deniz KÖR; Neslihan Önenli MUNGAN; Fatih KARDAŞ

Article Details

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Authors:

Habibe Koç UÇAR | Gökhan TÜMGÖR | Deniz KÖR | Neslihan Önenli MUNGAN | Fatih KARDAŞ

Publisher:

Trakya University

Journal:

Balkan Medical Journal 2016 Vol.33 Issue 3, pp.370-372

Document Type:

Article

Publication Date:

4/2016

Document Language:

Turkish

Document ID (Org No.):

2000759610

Frequency:

Bimonthly

pISSN:

2146-3123

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.

Article Details

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Authors: Habibe Koç UÇAR | Gökhan TÜMGÖR | Deniz KÖR | Neslihan Önenli MUNGAN | Fatih KARDAŞ

Publisher: Trakya University

Journal: Balkan Medical Journal 2016 Vol.33 Issue 3, pp.370-372

Document Type: Article

Publication Date: 4/2016

Document Language: Turkish

Document ID (Org No.): 2000759610

Frequency: Bimonthly

pISSN: 2146-3123

Issues

Authors:

Habibe Koç UÇAR | Gökhan TÜMGÖR | Deniz KÖR | Neslihan Önenli MUNGAN | Fatih KARDAŞ

Publisher:

Trakya University

Journal:

Balkan Medical Journal 2016 Vol.33 Issue 3, pp.370-372

Document Type:

Article

Publication Date:

4/2016

Document Language:

Turkish

Document ID (Org No.):

2000759610

Frequency:

Bimonthly

pISSN:

2146-3123