Chudley McCullough syndrome

Nadkarni, Trimurti; Menon, Ram K.; Shah, Abhidha; Goel, Atul

doi:10.1007/s00381-007-0518-z

Cited by 12 publications

(14 citation statements)

References 12 publications

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“…Micro-deletion [27] or duplication [10] of 22q has been reported to produce syndromes involving hydrocephalus and hearing loss. Similar case reports exist for several other rare syndromes [64, 82,113].…”

Section: Genetic Causes Of Hearing Loss and Hydrocephalussupporting

confidence: 71%

Hearing loss in hydrocephalus: a review, with focus on mechanisms

Satzer

Guillaume

2015

Neurosurg Rev

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While neither hydrocephalus nor cerebrospinal fluid (CSF) shunt placement is traditionally considered in the differential diagnosis of hearing loss, there is substantial evidence that CSF circulation and pressure abnormalities can produce auditory dysfunction. Several indirect mechanisms may explain association between hydrocephalus and hearing loss, including mass effect, compromise of the auditory pathway, complications of prematurity, and genetically mediated hydrocephalus and hearing loss. Nevertheless, researchers have proposed a direct mechanism, which we term the hydrodynamic theory. In this hypothesis, the intimate relationship between CSF and inner ear fluids permits relative endolymphatic or perilymphatic hydrops in the setting of CSF pressure disturbances. CSF is continuous with perilymph, and CSF pressure changes are known to produce parallel perilymphatic pressure changes. In support of the hydrodynamic theory, some studies have found an independent association between hydrocephalus and hearing loss. Moreover, surgical shunting of CSF has been linked to both resolution and development of auditory dysfunction. The disease burden of hydrocephalus-associated hearing loss may be large, and because hydrocephalus and over-shunting are reversible, this relationship merits broader recognition. Hydrocephalic patients should be monitored for hearing loss, and hearing loss in a patient with shunted hydrocephalus should prompt further evaluation and possibly adjustment of shunt settings.

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Section: Genetic Causes Of Hearing Loss and Hydrocephalussupporting

confidence: 71%

Hearing loss in hydrocephalus: a review, with focus on mechanisms

Satzer

Guillaume

2015

Neurosurg Rev

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“…1). 6,7,10,11 Up to the present case clearly showing abnormal foliation and fissuration, cerebellar dysplasia was described in only three patients (►Fig. 2).…”

Section: Discussionmentioning

confidence: 51%

“…6 We support the opinion that ventricular enlargement is not obstructive but communicating and malformative in all cases of Chudley-McCullough syndrome, typically associated with agenesis of the corpus callosum or callosal splenium, respectively. 5,7,8 This so-called colpocephaly was distinctly asymmetric in most of the cases with a tendency toward right-sided predominance (►Table 1). Callosal agenesis may affect the entire corpus callosum or solely posterior parts as in our patient.…”

Section: Discussionmentioning

confidence: 98%

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

et al. 2012

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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.

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“…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.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Chudley–McCullough syndrome

Chapman

Perez

Ishak

et al. 2016

American J of Med Genetics Pt A

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Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings. We report prenatal imaging features that help distinguish CMS from other disorders, including slit-like frontal horns, agenesis of the corpus callosum, frontal subcortical heterotopia, arachnoid cysts, and cerebellar dysplasia. © 2016 Wiley Periodicals, Inc.

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Chudley McCullough syndrome

Abstract: A 14-month-old female child presented with bilateral profound sensorineural hearing loss. Neuroimaging revealed partial agenesis of the corpus callosum, colpocephaly, and an interhemispheric arachnoid cyst. These associations suggested a diagnosis of Chudley McCullough syndrome.

Cited by 12 publications

References 12 publications

Hearing loss in hydrocephalus: a review, with focus on mechanisms

Hearing loss in hydrocephalus: a review, with focus on mechanisms

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

Prenatal diagnosis of Chudley–McCullough syndrome

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