Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters

We describe two brothers with Chudley–McCullough syndrome who are 5 and 17 years old. They were born to healthy consanguineous parents of Pakistani descent. They had severe sensorineural deafness and neuroimaging showed corpus callosum agenesis and other structural brain abnormalities. The Chudley–McCullough syndrome is an autosomal recessive disorder, first described by Chudley et al. [1997: Am J Med Genet 68:350–356]. The original description of the syndrome includes hydrocephalus due to obstruction of the foramen of Monro and early‐onset severe to profound sensorineural deafness. We review the findings in the two patients we describe, four children reported in the literature and two patients reported by Hendriks et al. [1999: Am J Med Genet 86:183–186] with sensorineural deafness, corpus callosum agenesis, and interhemispheric cysts, who may well have Chudley–McCullough syndrome. All patients had sensorineural deafness. The neuroimagings of all eight patients showed colpocephaly, which is most likely caused by corpus callosum agenesis. Three patients had other structural brain abnormalities: cortical dysplasia and gray matter heterotopia. We suggest a revision of the clinical description since the most likely basic developmental defect is corpus callosum agenesis and not foramen of Monro obstruction. © 2003 Wiley‐Liss, Inc.

Section: Discussionmentioning

confidence: 99%

“…All four patients were of Mennonite descent. Two Dutch sisters with arachnoid cysts, corpus callosum agenesis, and deafness described by Hendriks et al [1999] most likely have the same disorder.…”

Section: Introductionmentioning

confidence: 99%

Brothers with Chudley–McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities

Østergaard

Pedersen

Skriver

et al. 2003

“…). In the first family, described previously by Hendriks et al [], two affected sisters had a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cyst, and hydrocephalus. They had normal development and no distinctive physical anomalies.…”

Section: Methodsmentioning

confidence: 99%

“…Their parents were non‐consanguineous but originated from the same Dutch village, were phenotypically normal and both had normal hearing and no brain abnormalities. Hendriks et al postulated that the two affected sibs may have had a different syndrome than that described by Chudley et al Welch et al later commented that the two affected girls most likely had CMS [Hendriks et al, ; Welch et al, ]. Recently the two sisters were re‐examined at the age of 17 and 25 years, respectively, and had normal intelligence.…”

Section: Methodsmentioning

confidence: 99%

“…Patients with CMS may either be hearing or deaf at birth. However, hearing loss is always profound by the age of 3 years [Hendriks et al, ; Lemire and Stoeber, ; Welch et al, ; Ostergaard et al, ; Matteucci et al, ]. It is has been suggested that some cases of CMS may not be detected because the hydrocephalus does not progress and is compensated [Welch et al, ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America

Almomani

Sun

Aten

et al. 2013

Chudley-McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as a cause of CMS by Doherty et al. In this study we have performed exome sequencing of three CMS patients from two unrelated families from the same Dutch village. We identified one homozygous frameshift GPSM2 variants c.1473delG in all patients. We show that this variant arises from a shared, rare haplotype. Since the c.1473delG variant was found in Mennonite settlers, it likely originated in Europe. To support DNA diagnostics, we established an LOVD database for GPSM2 containing all variants thus far described.

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

Welch

Tekin

Nance

et al. 2003

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.