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A rare case of 2q37 deletion syndrome presented with patent foramen ovale

Ahmed Zaki1, Nour Shaheen2, Mohamed Hosny3

  • 1Faculty of Medicine Cairo University Cairo Egypt.

Clinical Case Reports
|November 29, 2023
PubMed

Insights

This case report details a child with 2q37 deletion syndrome and patent foramen ovale who showed improved hypotonia and motor skills after physical therapy. Early diagnosis and intervention are crucial for managing developmental delays.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • 2q37 deletion syndrome is a rare genetic disorder associated with developmental delays and hypotonia.
  • Patent foramen ovale is a common congenital heart defect that can sometimes be associated with genetic syndromes.

Observation:

  • A 3-year-old female presented with hypotonia and gross motor delay, diagnosed with 2q37 deletion syndrome and patent foramen ovale.
  • The patient underwent a year of consistent physical therapy tailored to address her developmental challenges.

Findings:

  • Significant improvement in hypotonia was observed.
  • Marked progress in gross motor skills was achieved following the physical therapy intervention.
  • The combination of genetic diagnosis and targeted therapy led to positive developmental outcomes.

Implications:

  • This case underscores the critical role of comprehensive diagnostic evaluation in identifying the root causes of pediatric developmental delays.
  • Early and consistent physical therapy can effectively mitigate symptoms associated with 2q37 deletion syndrome, improving functional abilities.
  • Highlighting the importance of multidisciplinary care for children with complex genetic conditions and associated comorbidities.

Keywords:
2q37 deletion syndromecardiac anomalieschromosome 2comparative genomic hybridizationpatent foramen ovalesingle nucleotide polymorphism

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