Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
| العنوان: | Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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| المؤلفون: | Tomoki Kaneko, Yumi Hoshino, Atsuhiro Matsuno, Yoshiki Sekijima, Masahide Yazaki, Minori Kodaira, Kyoko Takano, Tetsuhiro Fukuyama |
| المصدر: | Internal Medicine. 61:553-557 |
| بيانات النشر: | Japanese Society of Internal Medicine, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Male, Ornithine, medicine.medical_specialty, Gastroenterology, Leukoencephalopathy, Epilepsy, Lactulose, HHH SYNDROME, Ammonia, Leukoencephalopathies, Internal medicine, Internal Medicine, medicine, Humans, Hyperammonemia, Child, Urea Cycle Disorders, Inborn, Hyperornithinemia, Gait Disturbance, business.industry, General Medicine, Middle Aged, medicine.disease, Toxicity, business, medicine.drug |
| الوصف: | A 49-year-old Japanese man had shown developmental delay, learning difficulties, epilepsy, and slowly progressive gait disturbance in elementary school. At 46 years old, he experienced repeated drowsiness with or without generalized convulsions, and hyperammonemia was detected. Brain magnetic resonance imaging detected multiple cerebral white matter lesions. An electroencephalogram showed diffuse slow basic activities with 2- to 3-Hz δ waves. Genetic tests confirmed a diagnosis of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Leukoencephalopathy was resolved following the administration of L-arginine and lactulose with a decrease in plasma ammonia levels and glutamine-glutamate peak on magnetic resonance spectroscopy. Leukoencephalopathy in HHH syndrome may be reversible with the resolution of hyperammonemia-induced glutamine toxicity. |
| تدمد: | 1349-7235 0918-2918 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfff76cae6a64cf19005e0a7b47aded https://doi.org/10.2169/internalmedicine.7843-21 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....5dfff76cae6a64cf19005e0a7b47aded |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13497235 09182918 |
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