title: A neuropathological investigation of a case of tyrosinosis.
abstract: An autopsy case of tyrosinosis was reported. The patient was a 5-month-old boy who had jaundice and hepatosplenomegaly since 10 weeks after his birth. Tyrosine blood level was 6.937 mg/dl and the level of p-HPPA oxidase low. Neuropathologically, the cerebral lesions were characterized by a spongy state, vacuoles in neuronal cells and focal deposition of PAS-positive substance in and around the axon. The electron microscopic examination revealed axonal degeneration and unusual deep cortical structure, possibly axons, containing numerous lysosomes, elongated mitochondria and MCB-like bodies in unmyelinated axon. These facts were suggested to represent morphologic evidence of altered cellular metabolism, related to impaired tyrosine degradation.
mesh_terms: D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D001921:Brain / Q000473:pathology* / Q000648:ultrastructure; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D007565:Jaundice / Q000209:etiology; D008297:Male; D013163:Splenomegaly / Q000209:etiology; D014443:Tyrosine
chemical_list: D014443:Tyrosine; D015111:4-Hydroxyphenylpyruvate Dioxygenase