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Related Experiment Video

Updated: Jul 10, 2026

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Chudley McCullough syndrome.

Trimurti D Nadkarni1, Ram K Menon, Abhidha H Shah

  • 1Department of Neurosurgery, King Edward Memorial Hospital, Seth G. S. Medical College, Parel, Mumbai 400 012, India. tdnadkarni@hotmail.com

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|October 27, 2007
PubMed
Summary
This summary is machine-generated.

Chudley McCullough syndrome, a rare condition causing sensorineural hearing loss, involves brain abnormalities. Treatments for related cysts or hydrocephalus do not restore hearing in affected children.

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Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Chudley McCullough syndrome is a rare genetic disorder.
  • It is characterized by corpus callosum agenesis, interhemispheric cysts, cortical dysplasias, and hydrocephalus.
  • This syndrome is associated with sensorineural hearing loss.

Observation:

  • A 14-month-old female presented with bilateral profound sensorineural hearing loss.
  • Neuroimaging showed partial agenesis of the corpus callosum, colpocephaly, and an interhemispheric arachnoid cyst.
  • These findings are consistent with Chudley McCullough syndrome.

Findings:

  • The case illustrates the key neuroimaging features of Chudley McCullough syndrome.
  • Literature review confirms the rarity of this syndrome, with 13 siblings in 6 families previously reported.
  • Treatment of ventricular dilatation or arachnoid cysts does not improve the sensorineural hearing loss.

Implications:

  • Early diagnosis of Chudley McCullough syndrome is crucial for appropriate management.
  • Understanding the syndrome's characteristics aids in genetic counseling and family planning.
  • This case highlights the need for realistic expectations regarding hearing restoration in affected individuals.