Case Series of Ethylmalonic Encephalopathy from Southern India.

IF 0.4 Q4 PEDIATRICS
Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K Shivappa, Maya Bhat, Rita Christopher
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Abstract

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.

印度南部乙基丙二酸脑病病例系列。
乙基丙二酸脑病是一种罕见的神经代谢性疾病,累及中枢神经系统和血管病变。它在婴儿期表现为发育迟缓、肢绀、瘀点、慢性腹泻和早期死亡。这是一项回顾性研究,对一家三级医院2015年1月至2020年12月5年间确诊的乙基丙二酸尿症病例进行研究。病例细节包括分析的临床病史,调查,和结果提出。6例中,男女比例为4:2。平均出现年龄35.5个月(范围:14-83个月)。在所有病例中均观察到亲属关系,整体发育迟缓,发育不全,皮疹,小头畸形,张力低下和深肌腱反射过度。慢性腹泻5例。所有病例血清C4肉碱水平和尿乙基丙二酸水平均升高。5例颅脑磁共振成像(MRI)显示双侧基底节区不均匀对称改变,1例MRI未见。两例病例的基因检测显示ETHE1基因纯合变异。4例患儿死亡,另外2例患儿在使用甲硝唑后复发性脑病和腹泻减少。所有儿童均出现整体发育迟缓、发育不全、皮疹、中枢性低张力、血清C4肉碱水平升高和尿乙基丙二酸升高。慢性腹泻、肢绀、基底节区MRI改变也为诊断提供重要线索。甲硝唑对预防脑病复发很有用。
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来源期刊
自引率
0.00%
发文量
32
期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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