Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature

Joel Verbrugge, Arabinda Kumar Choudhary, Roger Ladda

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Wolf-Hirschhorn syndrome (4p-) is a rare disorder with characteristic physical findings. Neuroimaging findings are relatively scarce. We performed a literature search and found 22 reports of neuroimaging findings. We present findings in our two cases, each with the previously unreported finding of a tethered cord. The most common abnormalities were of the corpus callosum, occurring in 71% of all cases. There appears to be a high association in the syndrome between corpus callosal abnormalities and periventricular cysts formation in the first year of life. These cysts eventually fuse with the frontal horns during late infancy with enlargement of the frontal horns. Absence of other causes for periventricular cyst formation, such as perinatal distress, prematurity, or cytomegalovirus infection, appears to strengthen the association. With further studies, neuroimaging findings may eventually assist in the diagnosis of patients with Wolf-Hirschhorn syndrome.

Original languageEnglish (US)
Pages (from-to)2280-2284
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number10
DOIs
StatePublished - Oct 1 2009

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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