A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations.
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.
Segawa
Yoshie
Y
Yanagawa Institute for Developmental Disabilities, Fukuoka, Japan.
Matsufuji
Mayumi
M
Itokazu
Naoya
N
Utsunomiya
Hidetsuna
H
Watanabe
Yoriko
Y
Yoshino
Makoto
M
Takashima
Sachio
S
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*
D004044:Dietary Proteins