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September 12, 2025Neurology

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant

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Authors

AMAnika MenetreyMTMark A. TarnopolskySYSangeetha Yoganathan

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Overview

Case report details neurodevelopmental disorder and imaging findings mimicking cerebral palsy in a child, suggesting DHX37's role.

Key Points

  • Clinical findings indicated a neurodevelopmental disorder that mimicked cerebral palsy in the patient.
  • Whole genome sequencing revealed a homozygous variant in the DHX37 gene, confirming the diagnosis.
  • The child presented with significant symptoms including microcephaly, seizures, and movement disorders.
  • Imaging revealed neurological abnormalities that highlighted the complexity of diagnosing such disorders effectively.

Cite This Study

Menetrey et al. (2025) studied this question.

synapsesocial.com/papers/68d44a3031b076d99fa53368https://doi.org/10.1212/wnl.0000000000214126
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