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A child with a novel DDX3X variant mimicking cerebral palsy: a case report
Liqin Hu1, Xiaoqin Xin2, Shaobin Lin3
1Department of Gynaecology and Obstetrics, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China.
Background:
Cerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. In CP, the depth of investigation is guided by the patients' medical history and their clinical examination. Magnetic resonance imaging (MRI) has a high yield and is widely used for investigation in CP.
Case Presentation:
In this paper, we report a novel DDX3X variant in a girl afflicted with the X-linked mental retardation-102 (MRX102). The girl had been misdiagnosed with CP in her early life based on a comprehensive clinical evaluation and associated clinical features, such as developmental delay, reduced activities of the arms and legs, and abnormal brain MRI. Subsequently, whole-exome sequencing was applied to better distinguish between CP and actual MRX102 with similar characteristics.
Conclusions:
We report on a de novo heterozygous DDX3X variant mimicking cerebral palsy and suggest a thorough and conscientious review during diagnosis of CP.
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