A child with a novel DDX3X variant mimicking cerebral palsy: a case report.

ABSTRACT:

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 M

SUBMITTER: Hu L 

PROVIDER: S-EPMC7325255 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature