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"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype

E Boltshauser1, P G Barth, D Troost

  • 1University Children's Hospital Zurich, Switzerland. eugen.boltshauser@kispi.unizh.ch

Neuropediatrics
|June 21, 2002
PubMed

Insights

This study details a rare infant case with severe leukodystrophy, characterized by brain white matter destruction and lack of myelination, leading to early death.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Describes a rare case of a female infant with intrauterine growth retardation, congenital cataracts, dysmorphic features, and joint contractures.
  • Highlights the challenges in diagnosing and understanding severe leukodystrophic processes with unknown pathogenesis.

Observation:

  • Serial MRI revealed progressive postnatal cerebral and cerebellar atrophy and significant white matter loss.
  • Post-mortem examination confirmed ovarian dysgenesis and a lack of myelination in the brainstem and cerebellum.

Findings:

  • Severe destruction (cavitation) of cerebral white matter was observed, with preserved but unmyelinated axons in other brain regions.
  • Histopathological findings suggest a severe leukodystrophic process with pre- or perinatal onset.

Implications:

  • This case contributes to the understanding of rare leukodystrophies and their impact on neurological development.
  • Further research is needed to elucidate the exact pathogenesis of this severe neurological disorder.

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