RT Journal Article
SR Electronic
T1 Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia
JF BMJ Neurology Open
JO BMJ Neurol Open
FD BMJ Publishing Group Ltd
SP e000354
DO 10.1136/bmjno-2022-000354
VO 4
IS 2
A1 Yuya Tanaka
A1 Mitsuru Matsuki
A1 Rieko Furukawa
A1 Waka Nakata
A1 Yoshio Sakurai
A1 Sayaka Ajihara
A1 Akiko Kawano
A1 Harushi Mori
YR 2022
UL http://neurologyopen.bmj.com/content/4/2/e000354.abstract
AB Background Patients with ornithine transcarbamylase deficiency (OTCD) often present with severe hyperammonaemia. We report a case of osmotic demyelination syndrome (ODS) secondary to the treatment of hyperammonaemia due to OTCD, a disease requiring early diagnosis, as it can have a severe prognosis.Case A girl toddler was brought to the hospital with a complaint of somnolence, presenting with hyperammonaemia and liver failure, and was diagnosed with OTCD. Treatment was started immediately, and the ammonia level returned to the normal range within 24 hours. On days 13–20, another treatment was commenced for re-elevated ammonia levels, which subsequently returned to within the reference range; however, mildly impaired consciousness persisted. Hypokalaemia coincided with temporary intravenous treatment and continuous haemodialysis. T2-weighted magnetic resonance images revealed lesions as high-signal areas in the bilateral putamen on day 11 (extrapontine myelinolysis (EPM)) and in the pons on day 51 (central pontine myelinolysis (CPM)). Consequently, ODS was diagnosed.Conclusion When interpreting magnetic resonance images of patients under acute treatment for hyperammonaemia due to OTCD, a condition that may be complicated by hypokalaemia, paying attention to findings suggesting EPM may help detect ODS before CPM appears and may improve patient prognosis.Data sharing not applicable as no datasets generated and/or analysed for this study.