Introduction Tyrosinemia type 1 is an AR inherited metabolic disorder attributed to deficiency of Fumarylacetoacetatehydrolase, which is a terminal enzyme in the metabolism of tyrosine. The gene for this enzyme has been mapped to the long arm of chromosome 15. Its prevalence has been reported as 1: 100.000. The patients with tyrosinemia expire in the early years of their lives. There is a markedly increased risk of hepatocellular carcinoma among the survivors.
Case report An Saudi 8-month-old male infant presented with complaints of abdominal distension, fever, jaundice, melena and disturbed level of consciousness for 3 days prior to admission to PICU (in King Fahd Hospital, Al-Baha). He was the 1stchild of 1st degree consanguineous parents.
His motor and mental development were delayed. One day after admission, the infant developed repeated daily attacks of neurological crises in bouts of irritability, crying with increased tone and deep tendon reflexes in the lower limbs.
On physical examination patient looked sick, pale, jaundiced and drowsy. He had rachitic signs. There was mild lower limb edema. Fine crackles were audible bilaterally on the chest. Abdomen was distended. Liver was palpable 5 cm below right costal margin. Spleen was just palpable below left costal margin. There was positive shifting dullness, with scrotal edema. The infant was drowsy, with poor vision, and hypertonic, with exaggerated deep tendon reflexes.
Hematological screening CBC showed anemia and thrombocytopenia. CRP was positive and urine analysis showed albumin & RBCs.
Biochemical examination showed that BUN: 12.5 mmol/L, creatinine 27 umol/L, glucose: 2.9 mmol/L, Ca: 2.2 mmol/L, phosphorus: 0.64 mmol/L, Mg: 0.57 mmol/L, albumin: 28 μmol/L, T. bilirubin: 35 μmol/L, direct bilirubin: 17 μmol/L, alkaline phosphatase 426U/L, AST: 65U/L, gamma GT: 130U/L, LDH: 566U/L, ammonia: 121 μmmol/L. Coagulation screening was abnormal. Blood Alpha feto protein was very high, ABG examination showed compensated metabolic acidosis.
Tracheal aspirate C/S showed MRSA The left wrist graphy showed evidence of rickets. Abdomen ultrasonography revealed hepatosplenomegaly with moderate ascites. Liver examination showed multiple hyperechoic masses. Abdominal CT showed hepatomegaly with multiple hyperdense masses, splenomegaly and ascites. CT brain showed cerebral atrophy.
Blood phenylalanine, tyrosine and methionine levels were all high. Urine examination showed increased levels of organic acids.
So, the infant was diagnosed as tyrosinemia type I and was prescribed a phenylalanine and tyrosine restricted diet (special formula milk) and received treatment for Vit. D resistant rickets. Following treatment, patient showed much clinical and laboratory improvement, but not to the safe level to conduct liver biopsy.
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