A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.
A 40-year-old woman was referred for several episodes of coma lasting from 2 hours to 2 days. She had been on maintenance hemodialysis for polycystic kidney disease for 9 months. Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II citrullinemia was made. Multiple areas of focal brain edema were shown by magnetic resonance imaging. The clinical manifestations of coma and abnormal behavior were resolved with intensified dialysis (ie, four 5-hour sessions per week with glycerol and continuous ambulatory peritoneal dialysis). No abnormal shadow was present on follow-up magnetic resonance imaging. Such intensified dialysis therapy may be effective for adult-onset type II citrullinemia and may be applicable even in patients who do not have end-stage renal disease if liver transplant is not an option.
Oshiro
Saori
S
Third Department of Internal Medicine and Dialysis Unit, University of The Ryukyus, Okinawa, Japan. chihokun@med.u-ryukyu.ac.jp
Kochinda
Tutomu
T
Tana
Takeshi
T
Yamazato
Masanobu
M
Kobayashi
Keiko
K
Komine
Yukihiro
Y
Muratani
Hiromi
H
Saheki
Takeyori
T
Iseki
Kunitoshi
K
Takishita
Shuichi
S
D000328:Adult; D000641:Ammonia / Q000097:blood; D001921:Brain / Q000473:pathology; D002956:Citrulline / Q000097:blood; D020159:Citrullinemia / Q000097:blood / Q000150:complications / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000628:therapy; D006435:Renal Dialysis; D013997:Time Factors
D002956:Citrulline; D000641:Ammonia