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Familial Dandy-Walker malformation and leukodystrophy

V T Humbertclaude1, P A Coubes, N Leboucq

  • 1Service de Neuropédiatrie, Clinique Saint Eloi, Montpellier, France.

Pediatric Neurology
|May 1, 1997
PubMed
Summary
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This study details rare familial cases of posterior fossa cystic malformation and leukodystrophy in siblings. Genetic analysis suggests autosomal recessive inheritance for these severe neurological conditions.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Posterior fossa cystic malformations and leukodystrophies are rare neurological disorders.
  • Familial occurrence suggests a potential genetic basis for these conditions.

Observation:

  • Two siblings presented with severe encephalopathy, hypotonia, macrocrania, gigantism, and dysmorphic features.
  • Cerebral MRI revealed Dandy-Walker variant in one sibling and mega cisterna magna in the other, both with supratentorial white matter abnormalities.
  • Ophthalmological findings included unilateral cataract and bilateral optic atrophy, with prolonged visual and auditory evoked potential latencies.

Findings:

  • The clinical presentation and neuroimaging findings in siblings suggest a novel genetic syndrome.
  • Autosomal recessive inheritance is suspected due to consanguineous parents.

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  • Normal muscle/nerve biopsies and metabolic tests rule out common metabolic or neuromuscular disorders.

    • Implications:

    • This report expands the spectrum of posterior fossa malformations and associated genetic conditions.
    • Highlights the importance of neuroimaging and genetic evaluation in familial cases with complex neurological phenotypes.
    • Further research is needed to identify the specific genetic mutations responsible for this condition.