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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 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.

SUBMITTER: Hu L

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

REPOSITORIES: biostudies-literature

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

Hu Liqin L Xin Xiaoqin X Lin Shaobin S Luo Min M Chen Junkun J Qiu Hongsheng H Ma Li L Huang Jungao J

Italian journal of pediatrics 20200629 1

<h4>Background</h4>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.<h4>Case presentation</h4>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 misdia ...[more]

PMID: 32600431

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Project description:BackgroundCongenital heart disease (CHD) is the most common birth defect, affecting 1% of children who are born in the United States each year. Children with hypoplastic left heart syndrome, a type of critical CHD, are at high risk for neurodevelopmental disabilities, which are conditions that can affect motor, language, and cognitive development. In children with critical CHD, the severity and prevalence of their motor delays is most pronounced in infancy.Case descriptionWe present a case of a former late preterm male with hypoplastic left heart syndrome and history of hypoxic ischemic encephalopathy, who was diagnosed with spastic diplegic cerebral palsy in the setting of periventricular leukomalacia. Like many children with critical CHD, this child had gross motor delays and tone abnormalities in infancy. However, unlike many children with CHD, he continued to have neurologic differences that prompted additional evaluation through a Cardiac Neurodevelopmental Program. He was diagnosed with spastic diplegic cerebral palsy based upon clinical history and physical examination. Ancillary testing showed periventricular leukomalacia on brain magnetic resonance imaging (MRI); this finding was consistent with his clinical diagnosis.ConclusionsThis is an interesting case report of spastic diplegic cerebral palsy in a late preterm infant with critical CHD. When making a diagnosis of cerebral palsy, it is important to consider the etiology of the motor impairment. Selective vulnerability may have played a factor in this child's condition. The most vulnerable part of the neonatal brain is the periventricular white matter; cerebral hypoxia can lead to periventricular leukomalacia. Children with CHD have brain dysmaturity beginning in-utero. Thus, it is possible that this child's brain dysmaturity may have increased his susceptibility to periventricular leukomalacia. Because most children with CHD have gross motor delays in infancy, it may be challenging to make a definitive diagnosis of cerebral palsy in an infant with critical CHD. Children with cerebral palsy have early motor delays that persist throughout life. It is the identification of persistent motor impairments through repeat evaluations that enabled this child's cerebral palsy diagnosis. This illustrates the importance of developmental surveillance in children with critical CHD.

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

Publications

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

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