Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms.

IF 0.4 Q4 PEDIATRICS
Divya Nagabushana, Aparajita Chatterjee, Raghavendra Kenchaiah, Ajay Asranna, Gautham Arunachal, Ravindranadh Chowdary Mundlamuri
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引用次数: 1

Abstract

Introduction  IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report  We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion  IQSEC2-related encephalopathy may present with Rett atypical phenotypes and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

以rett样表型和婴儿痉挛为表现的iqsec2相关脑病对类固醇的反应
iqsec2相关脑病是一种与智力残疾、癫痫和自闭症相关的x连锁儿童神经发育障碍。这种疾病是由IQSEC2基因突变引起的,该基因的产物在中枢神经系统的发育中起着重要作用。我们描述了一个17个月大的男婴与一个新的IQSEC2突变的症状,临床过程和管理。他表现为非典型Rett综合征表型,伴有发育迟缓、自闭症特征、中线刻板印象、小头畸形、张力低下和多种发作类型的癫痫,包括晚发性婴儿痉挛。痉挛之后,行为和认知恶化,以及获得性里程碑的倒退。类固醇治疗可以控制痉挛,改善注意力、行为和运动障碍的恢复。在类固醇治疗后的过去10个月,儿童发育滞后,仍然是自闭症,没有进一步的癫痫复发。结论iqsec2相关性脑病可能表现为Rett非典型表型和儿童期痉挛。在资源有限的情况下,类固醇可用于iqsec2相关癫痫性脑病的痉挛缓解。
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来源期刊
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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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