Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley–McCullough syndrome

Abstract

We describe an Italian family in which two sisters have macrocephaly due to hydrocephalus, and sensorineural hearing loss in addition to other brain abnormalities demonstrated by Magnetic resonance imaging (MRI). The girls, born to healthy non-consanguineous parents, have borderline psychomotor development delay (probably due to hearing defect) and minor dysmorphisms. The clinical picture fits the Chudley-McCullough syndrome, an autosomal recessive condition, to date described in only five families. Our data, in particular the neuroradiological findings, include all brain anomalies variably reported in previous works (hydrocephalus, corpus callosum partial agenesis, interhemispheric cyst, cerebral and cerebellar cortex dysplasia), thus illustrating the full phenotype of the syndrome.

Unique disease heritage of the Dutch‐German Mennonite population

“…In addition to another report of a Saskatchewan Mennonite family [Lemire and Stoeber, 2000], we are aware of three other Manitoba Mennonite families with affected children with the same constellation of anomalies. The phenotype has been expanded in reports of affected children in families from the United States [Welch et al, 2003], the Netherlands [Hendriks et al, 1999], Pakistan [Ostergaard et al, 2004], and Italy [Matteucci et al, 2006], all of whom were non-Mennonites. The other reports refined the description of the syndrome to include bilateral hearing loss, which may or may not be present at birth, and brain malformations that may include hydrocephalus due to obstruction of the Foramen of Monro, colpocephaly, interhemispheric and porencephalic cysts, gray matter heterotopias of the cerebral cortex with dysplasia and corpus callosum anomalies (Fig.…”

Colpocephaly in Chudley-McCullough Syndrome

“…As in our cases, many authors were tempted to operate the "hydrocephalus" in patients with Chudley-McCullough syndrome, most often with a ventriculoperitoneal shunt [1,5,9,10,12,13,16] and in many cases without a clear effect. Other authors also noted that treatment of the ventricular enlargement through shunting or fenestration of the cyst had no effect [12,16].…”

“…Other authors also noted that treatment of the ventricular enlargement through shunting or fenestration of the cyst had no effect [12,16]. Therefore, we believe no neurosurgical intervention is required in patients with ChudleyMcCullough syndrome, unless there is clear evidence of raised intracranial pressure.…”

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.…”