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

Year 2016, Volume: 33 Issue: 3, 370 - 372, 01.05.2016

Habibe Koç Uçar Gökhan Tümgör Deniz Kör Neslihan Önenli Mungan Fatih Kardaş

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

References

• 1. Nyhan WL, Barshop BA, Al-Aqeel AI. Hepatorenal tyrosinemia/ fumarylacetoacetate hydrolase deficiency. In: Nyhan WL, Barshop BA, Al-Aqeel AI. Atlas of inherited metabolic diseases. 3rd ed. London: Hodder Arnold and Hachette UK Company. 2012:171-9.
• 2. Chakrapani A, Gissen P, McKiernan P. Disorders of tyrosine metabolism. In: Saudubray JM, Berghe GVD, Walter JH. Inborn Metabolic Disease. 5th ed. Germany; Springer. 2012:265-77. [CrossRef]
• 3. Rezvani I, Mitchel G. Tyrosine. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BMD. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: Saunders Elsevier. 2007;532.
• 4. Santra S , Preece MA , SA Hulton, McKiernan PJ. Renal tubular function in children with tyrosinaemia type I treated with nitisinone. J Inherit Metab Dis 2008;31:399-402. [CrossRef]
• 5. Lowe ME. Pancreatitis. In: Wyllie R, Hyams JS, Kay M. Pediatric Gastrointestinal and Liver Disease. 4th ed. Philadelphia; Elsevier Saunders 2011;905-14.
• 6. Kalkanoğlu HS, Coşkun T. Neurological crisis mimicking acute pancreatitis in tyrosinemia type I. Turk J Pediatr 1999;41:501-4.
• 7. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992;340:813- 7. [CrossRef]
• 8. Schlump JU, Perot C, Ketteler K, Schiff M, Mayatepek E, Wendel U et al. Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. J Inherit Metab Dis 2008;31:223-5. [CrossRef]