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A 11 month old infant was not reciprocating to the sounds of his parents they showed his pediatrician, who ordered a BERA test which revealed severe sensorineural hearing loss. Child had normal developmental milestones for his age<br><br>MRI Brain was done which showed colpocephaly, partial agenesis of the corpus callosum, cerebellar dysplasia, arachnoid cysts, frontal subcortical heterotopia and frontal polymicrogyria<br><br>Which syndrome should you suspect in this child?
Explanation
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Chudley-McCullough syndrome, is a rare autosomal recessive disorder characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial) agenesis of the corpus callosum, cerebellar dysplasia, arachnoid cysts, frontal subcortical heterotopia, and midline polymicrogyria. When hearing loss is managed early, most patients have minor or no impairment of motor and cognitive development, despite the presence of brain malformations.
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Reference
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Blauen, A. et al. Chudley-McCullough Syndrome A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations. J Child Neurol 36, 152158 (2021).
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Option 1
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Is Correct (Option 1):
Usher syndrome
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Option 2
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Is Correct (Option 2):
Chudley-McCullough Syndrome
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Option 3
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Is Correct (Option 3):
Pendred syndrome
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Option 4
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Is Correct (Option 4):
Jervell and Lange-Nielsen Syndrome
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