A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations

作者：Segawa Yoshie; Matsufuji Mayumi^*; Itokazu Naoya; Utsunomiya Hidetsuna; Watanabe Yoriko; Yoshino Makoto; Takashima Sachio

来源：Brain & Development, 2011, 33(1): 45-48.

DOI：10.1016/j.braindev.2010.03.001

• Argininemia
• Long-term survival
• MRI
• Multicystic encephalomalacia

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.

• 出版日期2011-1