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Clival Malformations in CHARGE Syndrome.

E S Mahdi1, M T Whitehead2,3

  • 1From the Department of Diagnostic Imaging and Radiology (E.S.M., M.T.W.), Children's National Medical Center, Washington, DC emahdi@childrensnational.org.

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Summary

Clival pathology, including coronal clival clefts, is nearly universal in CHARGE syndrome. This finding is a valuable diagnostic clue for radiologists to identify other CHARGE syndrome features.

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Area of Science:

  • Radiology
  • Genetics
  • Pediatrics

Background:

  • CHARGE syndrome is a complex congenital disorder with diverse manifestations.
  • Skull base and craniocervical junction abnormalities are not well-documented in CHARGE syndrome.
  • Recent findings suggest a link between coronal clival clefts and CHARGE syndrome.

Purpose of the Study:

  • To determine the prevalence of clival pathology in patients diagnosed with CHARGE syndrome.
  • To investigate the association between clival abnormalities and CHARGE syndrome.

Main Methods:

  • Retrospective analysis of CT/MRI imaging data from 2001-2017.
  • Review of electronic medical records to confirm CHARGE syndrome diagnosis.
  • Assessment of skull base anomalies, focusing on clival hypoplasia and dysplasia.

Main Results:

  • 15 patients with CHARGE syndrome were identified.
  • A coronal clival cleft was present in 87% of patients (13/15), either partial or complete.
  • Clival hypoplasia without clefting occurred in the remaining 2 patients.

Conclusions:

  • Clival pathology is a universal feature of CHARGE syndrome.
  • Coronal clival clefts are highly prevalent and serve as a significant diagnostic marker.
  • Radiologists should consider CHARGE syndrome when detecting clival clefts and examine for associated anomalies.