title: Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.
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.
authors.affiliation: Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey. munganhno@gmail.com.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Önenli Mungan
authors.affiliation: Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Dinçer
authors.initials: D
authors.lastname: Yıldızdaş
authors.affiliation: Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Kör
authors.affiliation: Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Özden Özgür
authors.initials: ÖÖ
authors.lastname: Horoz
authors.affiliation: Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Faruk
authors.initials: F
authors.lastname: İncecik
authors.affiliation: Duzen Laboratories Group, Ankara, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Öktem
authors.affiliation: Screening Labortory Hannover, Hannover, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Sander
mesh_terms: D003512:Cyclohexanones / Q000008:administration & dosage*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000097:blood* / Q000175:diagnosis*; D009579:Nitrobenzoates / Q000008:administration & dosage*; D013997:Time Factors; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000097:blood* / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D003512:Cyclohexanones; D009579:Nitrobenzoates; D014443:Tyrosine; C077073:nitisinone
keywords: Neurologic crisis; Nitisone; Polyneuropathy; Tyrosinemia type I