A Unique Association of Osteogenesis Imperfecta with Bilateral Renal Osteodystrophy and Gastroenteritis in a

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Laila Tul Qadar1, Rohan Kumar Ochani1, Asim Shaikh1

  • 1Internal Medicine, Dow University of Health Sciences, Karachi, PAK.

Cureus
|June 29, 2019
PubMed

Insights

This case report details a child with osteogenesis imperfecta presenting with unusual symptoms. The study highlights the rare co-occurrence of renal osteodystrophy and gastroenteritis in pediatric osteogenesis imperfecta.

Area of Science:

  • Pediatric Endocrinology
  • Pediatric Nephrology
  • Medical Genetics

Background:

  • Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones.
  • Typical OI features include bone fragility, blue sclera, and hearing loss.
  • This case presents an atypical OI presentation in a young child.

Observation:

  • A three-year-old male exhibited decreased appetite, weakness, loose motions, and motor developmental delay.
  • Physical examination revealed a frog-leg posture.
  • Radiographic findings suggested osteogenesis imperfecta, but classic features like blue sclera were absent.

Findings:

  • The child was diagnosed with osteogenesis imperfecta.
  • Associated conditions included bilateral renal calculi and grade 2 renal parenchymal changes (renal osteodystrophy).
  • Persistent gastroenteritis was also noted.

Implications:

  • This case underscores the importance of comprehensive evaluation in pediatric patients with suspected osteogenesis imperfecta.
  • It highlights the potential for unique, co-existing conditions such as renal osteodystrophy and chronic gastroenteritis.
  • Further research may elucidate the complex interplay between genetic bone disorders and other organ systems.

Keywords:
brittle bone diseasecollagenmutationosteogenesis imperfecta

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