Chudley‐McCullough syndrome: Expanded phenotype and review of the literature

Abstract

Chudley-McCullough syndrome is an autosomal recessive condition characterized by profound sensorineural deafness, hydrocephalus secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain. We describe a family including two brothers and a sister with this condition. Each has profound sensorineural deafness that was either congenital or rapidly progressive in infancy and asymmetric dilatation of the lateral ventricles secondary to obstruction of the foramen of Monro. They also have additional brain abnormalities, including arachnoid cyst, partial agenesis of the corpus callosum, and abnormalities in the migration of cerebellar cells. This report is the fourth description of this condition within four years, suggesting Chudley-McCullough may not be as rare as once assumed. We, therefore, recommend an audiological assessment for all children with hydrocephalus, especially those with obstruction of the foramen of Monro.

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].…”

“…Chudley-McCullough syndrome, first described in 1997 [1], is a very rare autosomal recessive disorder characterized by partial corpus callosum agenesis, colpocephaly with a right-sided tendency and bilateral severe to profound sensorineural hearing loss [1][2][3][4][5][6][7][8][9][10][11][12][13]. Other abnormalities include cortical dysplasia, frontal polymicrogyria, cerebellar dysgenesia, gray matter heterotopy, arachnoid cysts and sometimes mental retardation [8,9].…”

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

“…Since then a total of 11 children in 5 families, all with sensorineural hearing loss, macrocephaly, and colpocephaly have been reported [Hendriks et al, 1999;Lemire and Stoeber, 2000;Welch et al, 2003;Ostergaard et al, 2004] (Table I).…”

“…Lemire and Stoeber [2000], reported two sisters but one of the two with hydrocephalus did not have obstruction of Monro's foramen, while the other had cerebral and cerebellar grey and white matter abnormalities. Welch et al [2003] presented a family in which two brothers and one sister have profound sensorineural deafness and hydrocephalus in association with arachnoid cyst, partial absence of corpus callosum, and cerebellar polymicrogyria in one sib. Ostergaard et al [2004], described two brothers with severe sensorineural deafness, posterior corpus callosum agenesis, cortical dysplasia, and grey matter heterotopia in one sib.…”