Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

Metab Brain Dis. 2016 Oct;31(5):1181-3. doi: 10.1007/s11011-016-9833-y. Epub 2016 May 17.

Abstract

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 treatment the prognosis improved with reduced rate of complications. "Neurologic crisis" of tyrosinemia type I is a rare complication seen after discontinuation of treatment characterized with anorexia, vomiting, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm. Here, we report a tyrosinemia type I patient who admitted to the hospital with nonspecific symptoms such as vomiting, anorexia, weakness, and restlessness only after one month discontinuation of nitisone and diagnosed as neurological crisis.

Keywords: Neurologic crisis; Nitisone; Polyneuropathy; Tyrosinemia type I.

Publication types

  • Case Reports

MeSH terms

  • Cyclohexanones / administration & dosage*
  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Nervous System Diseases / blood*
  • Nervous System Diseases / diagnosis*
  • Nitrobenzoates / administration & dosage*
  • Time Factors
  • Tyrosine / blood
  • Tyrosinemias / blood*
  • Tyrosinemias / diagnosis*
  • Tyrosinemias / drug therapy

Substances

  • Cyclohexanones
  • Nitrobenzoates
  • Tyrosine
  • nitisinone