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: Yoshie Segawa, Mayumi Matsufuji, Naoya Itokazu, Hidetsuna Utsunomiya, Yoriko Watanabe, Makoto Yoshino, Sachio Takashima
• Journal: Brain & development (Brain Dev) Vol. 33 Issue 1 Pg. 45-8 (Jan 2011) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 20456883 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 Elsevier B.V. All rights reserved.

Chemical References

• Dietary Proteins

Topics

• Adult
• Atrophy (pathology)
• Brain (pathology)
• Dietary Proteins (adverse effects)
• Female
• Humans
• Hyperammonemia (blood, diet therapy, pathology, physiopathology)
• Hyperargininemia (blood, genetics, pathology, physiopathology)
• Magnetic Resonance Imaging (methods)
• Mutation
• Nerve Fibers, Myelinated (pathology)