Department of Pediatrics, Pu'er People's Hospital, 665000 Pu'er, Yunnan, China.
Actas Esp Psiquiatr. 2024 Aug;52(4):588-594. doi: 10.62641/aep.v52i4.1625.
of Medical History: A male infant, 8 months old, was admitted to hospital with cough and fever. The clinical symptoms were found to be mental retardation, obesity, dystonia, movement limitation, and visual retardation. Early development was normal, but after 6 months, the child developed upright head instability, difficulty grasping, and seizures. Symptoms and Signs: The child presents with mental retardation, obesity, increased muscle tone, motor dysfunction, visual impairment, and seizures.
A whole exon test was performed to detect a neurite extension and migration factor (NEXMIF) gene mutation (NM_001008537.2: c.1042C > T (p. Arg348*)), which is known to be associated with intellectual disability and neurological symptoms. In addition, the test revealed a mutation in the Kinase D interacting substrate of 220 kDa (KIDINS220) gene (NM_020738.2: c.3242_3243insC (p. Leu1082AIafs*5)) with a heterozygous mutation in the father and wild type in the mother.
The patient was treated with anti-infection, aerosol inhalation, calcium supplement, and anti-epileptic drugs (levetiracetam), and the disease was controlled. Home and hospital rehabilitation is also underway.
The condition of the child improved after treatment and no seizures occurred again. The patient needs continuous rehabilitation treatment and follow-up observation.
For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.
一名 8 月龄男婴，因咳嗽、发热入院。临床表现为精神运动发育迟缓、肥胖、肌张力障碍、运动受限和视力发育迟缓。早期发育正常，但 6 个月后患儿出现头部直立不稳、握持困难和抽搐。
患儿表现为精神运动发育迟缓、肥胖、肌张力增高、运动功能障碍、视力障碍和抽搐。
进行了全外显子检测，发现神经突起延伸和迁移因子（NEXMIF）基因突变（NM_001008537.2：c.1042C>T（p.Arg348*）），该突变与智力障碍和神经症状相关。此外，检测还发现激酶 D 相互作用底物 220kDa（KIDINS220）基因突变（NM_020738.2：c.3242_3243insC（p.Leu1082AIafs*5）），父亲为杂合突变，母亲为野生型。
给予抗感染、雾化吸入、补钙及抗癫痫药物（左乙拉西坦）治疗，病情得到控制。目前在家及医院行康复治疗。
经治疗后患儿病情好转，未再发作抽搐。患儿需继续行康复治疗及随访观察。
对于不明原因神经发育障碍且伴有肥胖、肌张力障碍、抽搐等共患病的男性患儿，应考虑 NEXMIF 等相关基因突变。临床实践中应尽早开展遗传检测，为遗传咨询提供依据。
