Nagabushana Divya, Chatterjee Aparajita, Kenchaiah Raghavendra, Asranna Ajay, Arunachal Gautham, Mundlamuri Ravindranadh Chowdary
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India.
J Pediatr Genet. 2020 Dec 7;12(1):76-80. doi: 10.1055/s-0040-1721371. eCollection 2023 Mar.
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 gene, the product of which plays an important role in the development of the central nervous system. We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel 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. 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.
IQSEC2相关脑病是一种X连锁的儿童神经发育障碍，伴有智力残疾、癫痫和自闭症。这种疾病是由该基因突变引起的，其基因产物在中枢神经系统发育中起重要作用。
我们描述了一名17个月大男性儿童的症状、临床病程及治疗情况，该儿童存在一种新的基因突变。他表现出非典型的雷特综合征表型，伴有发育迟缓、自闭症特征、中线刻板动作、小头畸形、肌张力减退和癫痫，癫痫发作类型多样，包括迟发性婴儿痉挛症。痉挛发作后，行为和认知能力恶化，已获得的发育里程碑出现倒退。使用类固醇治疗后，痉挛得到控制，注意力、行为改善，丧失的运动里程碑得以恢复。在类固醇治疗后的过去10个月里，患儿发育仍滞后，仍患有自闭症，未再出现癫痫发作。
IQSEC2相关脑病可能表现为非典型的雷特表型和儿童痉挛症。在资源有限的情况下，对于IQSEC2相关的癫痫性脑病，可考虑使用类固醇缓解痉挛。
