Chudley-McCullough Syndrome: Case Report and Review of the Neuroimaging Spectrum

Abstract

We report on a child with Chudley-McCullough syndrome and re-evaluate the spectrum of imaging findings (in 15 previously reported patients) which appear to be variable and, to some extent, ambiguous in the literature. Magnetic resonance imaging of the brain revealed asymmetric colpocephaly with agenesis of the splenium corporis callosi, ribbon-like subcortical gray matter heterotopia along the cingulate gyri, malrotation of both hippocampi, and dysplasia of the cerebellum. Macrocrania together with sensorineural hearing loss, colpocephaly, and posterior or complete agenesis of the corpus callosum can be considered the hallmarks of the autosomal recessive Chudley-McCullough syndrome. These may be variably associated with interhemispheric arachnoid cyst, cortical dysplasia, gray matter heterotopia, and cerebellar dysplasia. While early support with hearing aids may lead to improved language and cognitive outcome, shunting of ventricular dilatation is not indicated in the Chudley-McCullough syndrome.

Outcome of 12 antenatally diagnosed fetal arachnoid cysts: Case series and review of the literature

“…Chromosomal abnormality Other features Hogge et al 10 Partial trisomy 9q and partial monosomy Xq Prominent Nose, micrognatia, overlapping fingers, thin wall cyst compressing the right cerebral hemisphere Souter et al 19 Monosomy 14q Tetralogy of Fallot, IUGR, midline intracranial arachnoid cyst Pilu et al 12 Trisomy 18 Small arachnoid cyst in the ambient cistern, double outlet right ventricle, clenched hands Chen et al 24 Trisomy 18 Microcephaly, hypogenesis of cerebellar vermis, syndactyly, VSD, rocker-bottom feet Stein et al 25 Trisomy 20 mosaicism Arachnoid cyst of the basal cistern Bannister et al 27 Pallister-Hall, Aicardia Napolitano et al 34 Seckle syndrome Microcephaly, hypotelorism, beaked nose, micrognathia Kau et al 43 Chudley-Mc Cullough syndrome Martinez-Lage et al 44 Neurofibromatosis type 1 e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 1 9 ( 2 0 1 5 ) 1 1 4 e1 2 1…”

Prenatal diagnosis of Chudley–McCullough syndrome

“…Chudley–McCullough syndrome is characterized by profound sensorineural hearing loss and a distinctive brain malformation including ventriculomegaly with small frontal horns, varying degrees of corpus callosum agenesis, bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia, cerebellar dysplasia, and sometimes arachnoid cysts [Chudley et al, ; Lemire and Stoeber, ; Welch et al, ; Østergaard et al, ; Matteucci et al, ; Nadkarni et al, ; Alrashdi et al, ; Diaz‐Horta et al, ; Doherty et al, ; Kau et al, ; Almomani et al, ; Krishnan et al, ]. Surprisingly, despite their impressive brain malformations, individuals with CMS do not tend to have seizures or prominent neurodevelopmental issues beyond those expected with profound hearing loss.…”

Cerebellar Cysts in Children: A Pattern-Recognition Approach

“…Neuroimaging in autosomal recessively inherited Chudley-McCullough syndrome (MIM 604213) demonstrates consistently bilateral cerebellar dysplasia, in addition to anomalies of the corpus callosum, hydrocephalus, and heterotopias; however, cerebellar cysts are not a feature [42,43].…”