title: A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations.
abstract: Neuropathology and neuroimaging of long-term survival cases of arginase deficiency are rarely reported. The magnetic resonance imaging (MRI) of our case showed severe multicystic white matter lesions with cortical atrophy, which were more severe compared with previous reports. In this patient, low-protein diet successfully reduced hyperammonemia, but hyperargininemia persisted. These severe neurological and MRI findings may be explained by a compound heterozygote, inheriting both of severe mutant alleles from her parents.
authors.affiliation: Yanagawa Institute for Developmental Disabilities, Fukuoka, Japan.
authors.forename: Yoshie
authors.initials: Y
authors.lastname: Segawa
authors.forename: Mayumi
authors.initials: M
authors.lastname: Matsufuji
authors.forename: Naoya
authors.initials: N
authors.lastname: Itokazu
authors.forename: Hidetsuna
authors.initials: H
authors.lastname: Utsunomiya
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
authors.forename: Sachio
authors.initials: S
authors.lastname: Takashima
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D004044:Dietary Proteins / Q000009:adverse effects; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000178:diet therapy / Q000473:pathology / Q000503:physiopathology; D020162:Hyperargininemia / Q000097:blood / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009154:Mutation; D009413:Nerve Fibers, Myelinated / Q000473:pathology*
chemical_list: D004044:Dietary Proteins