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Abnormalities in central nervous system development in osteogenesis imperfecta type II

S C Emery1, N C Karpinski, L Hansen

  • 1Department of Pathology, University of California, San Diego, Medical Center, San Diego, CA 92103-8321, USA.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|February 9, 1999
PubMed
Summary

Mutations in type I collagen genes causing Osteogenesis Imperfecta (OI) type II are linked to central nervous system (CNS) anomalies. This study found varied brain abnormalities in OI type II cases, suggesting collagen

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Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Osteogenesis Imperfecta (OI) type II, a lethal skeletal disorder, stems from type I collagen gene mutations.
  • Recent findings link OI type II to neuropathological changes like microcalcifications and neuroblast migration issues.
  • Type I collagen is known to support neuritic maturation in the central nervous system (CNS).

Purpose of the Study:

  • To investigate further CNS developmental anomalies in OI type II.
  • To correlate specific brain abnormalities with different OI subtypes.
  • To explore the impact of collagen mutations on CNS development.

Main Methods:

  • Retrospective analysis of brain specimens from nine OI patients (seven OI type II, one OI type I, one OI type III).

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  • Inclusion of five control brains for comparison.
  • Detailed neuropathological examination of all specimens, noting specific anomalies and OI subtypes.

    • Main Results:

    • The OI type IIC brain exhibited severe malformations including hippocampal malrotation, agyria, laminar defects, hemorrhage, and periventricular leukomalacia (PVL).
    • The OI type IIB brain showed white matter gliosis, PVL, and calcifications, but normal overall development.
    • OI type IIA brains displayed a spectrum of findings, from migrational defects with PVL and gliosis to normal development with white matter injury, and one grossly normal brain.

    Conclusions:

    • Collagen mutations associated with OI type II can lead to diverse CNS developmental anomalies.
    • The specific type of collagen mutation may influence the pattern and severity of brain abnormalities.
    • These findings reinforce the critical role of collagen in normal CNS development.