Familial hydrocephalus with normal cognition and distinctive radiological features

Lina Basel-Vanagaite*, Annick Raas-Rotchild, Liora Kornreich, Adi Har-Zahav, Josefa Yeshaya, Victoria Latarowski, Israela Lerer, William B. Dobyns, Mordechai Shohat

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Hydrocephalus is a clinically and genetically heterogeneous condition. Individuals with posterior fossa abnormalities have an increased risk of developing hydrocephalus. The Dandy-Walker malformation, Dandy-Walker variant, and mega-cisterna magna (MCM) seem to represent a continuum of developmental anomalies of the posterior fossa. Here we describe the natural clinical history and the radiological features of a family with autosomal or X-linked dominant inheritance of MCM and hydrocephalus of variable severity. The affected family members demonstrate similar structural brain abnormalities including midline cyst, colpocephaly, MCM with a large posterior fossa and minimal vermian hypoplasia. The cognitive development of the affected individuals is normal. L1CAM and FOXC1 gene involvement in the pathogenesis of the disease in this family was excluded. The rare possibility of autosomal dominant or X-linked dominant inheritance and variable penetrance and expressivity must always be considered in genetic counseling of families with hereditary hydrocephalus.

Original languageEnglish
Pages (from-to)2743-2748
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2010


  • Autosomal dominant inheritance
  • Dandy-Walker malformation
  • Hydrocephalus
  • Mega-cisterna magna


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