Case Series of Ethylmalonic Encephalopathy from Southern India
| العنوان: | Case Series of Ethylmalonic Encephalopathy from Southern India |
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| المؤلفون: | Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K. Shivappa, Maya Bhat, Rita Christopher |
| المصدر: | Journal of Pediatric Genetics. |
| بيانات النشر: | Georg Thieme Verlag KG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Pediatrics, Perinatology and Child Health, Genetics (clinical) |
| الوصف: | Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020. Case details including analysis of clinical history, investigations, and outcomes are presented. Of six cases, male-to-female ratio was 4:2. Mean age of presentation was 35.5 months (range: 14–83 months). Consanguinity, global developmental delay, failure to thrive, skin rashes, microcephaly, hypotonia, and exaggerated deep tendon reflexes were observed in all cases. Chronic diarrhea was presented in five cases. The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not be done. Genetic testing in two cases showed a homozygous variant in ETHE1 gene. Four children died, while the other two cases showed a decreased in recurrent encephalopathies and diarrhea after starting metronidazole. All children had global developmental delay, failure to thrive, skin rashes, central hypotonia, increased C4 carnitine levels in the serum, and increased ethylmalonic acid in the urine. Chronic diarrhea, acrocyanosis, and basal ganglia change in the MRI of the brain also give important clues for diagnosis. Metronidazole is useful in preventing recurrent episodes of encephalopathy. |
| تدمد: | 2146-460X 2146-4596 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::0ae63b416b3cc3c8675a87955fd3e02c https://doi.org/10.1055/s-0041-1740370 |
| رقم الأكسشن: | edsair.doi...........0ae63b416b3cc3c8675a87955fd3e02c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2146460X 21464596 |
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