Chudley-McCullough syndrome

Classification according to ICD-10
H91.9	Other hearing loss, hearing loss or deafness without further information
ICD-10 online (WHO version 2019)

The Chudley-McCullough's syndrome is a very rare congenital disease with a combination of hearing loss on both sides, and malformations of the brain such as bar deficiency , heterotopias and arachnoid cysts .

Synonyms are: CMCS; Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts; Deafness, Autosomal Recessive 82; Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; DFNB82

The first description comes from 1997 by the Canadian doctors Albert E. Chudley, Carol McCullough and David W. McCullough.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 10 people have been reported. Inheritance is autosomal - recessive .

root cause

Of the disease are mutations in GPSM2 - gene on chromosome 1 locus p13.3 based encoding the G protein signaling modulator. 2

Clinical manifestations

Clinical criteria are:

Pronounced sensorineural hearing loss on both sides at birth or in the first years of life
complex malformation of the brain with a lack of bars , colpocephaly , focal cortical dysplasia and sometimes arachnoid cysts, hydrocephalus , frontal polymicrogyria , enlarged cerebellomedullary cistern , dysplasia of the cerebellum and nodular heterotopy .

diagnosis

The change can already be seen prenatally . The diagnosis is based on BERA examination and imaging of the brain using magnetic resonance imaging .

literature

K. Koenigstein, C. Gramsch, M. Kolodziej, BA Neubauer, A. Weber, S. Lechner, A. Hahn: Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. In: Neuropediatrics. Volume 47, Number 3, June 2016, pp. 197-201, doi: 10.1055 / s-0036-1579785 , PMID 27064331 .
O. Diaz-Horta, A. Sirmaci, D. Doherty, W. Nance, K. Arnos, A. Pandya, M. Tekin: GPSM2 mutations in Chudley-McCullough syndrome. In: American journal of medical genetics. Part A. Volume 158A, number 11, November 2012, pp. 2972-2973, doi: 10.1002 / ajmg.a.35636 , PMID 22987632 , PMC 3657751 (free full text).

Individual evidence

↑ ^a ^b ^c Chudley-McCullough syndrome. In: Orphanet (Rare Disease Database).
^ ^A ^b ^c Center for Arab Genomic Studies
^ AE Chudley, C. McCullough, DW McCullough: Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. In: American journal of medical genetics. Volume 68, Number 3, January 1997, pp. 350-356, PMID 9024571 .
↑ Chudley-McCullough syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ T. Chapman, FA Perez, GE Ishak, D. Doherty: Prenatal diagnosis of Chudley-McCullough syndrome. In: American journal of medical genetics. Part A. Volume 170, number 9, 09 2016, pp. 2426-2430, doi: 10.1002 / ajmg.a.37806 , PMID 27312216

Web links

Rare Diseases

[Orpha-1] Chudley-McCullough syndrome. In: Orphanet (Rare Disease Database).

[cags-2] A ^b ^c Center for Arab Genomic Studies

[3] AE Chudley, C. McCullough, DW McCullough: Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. In: American journal of medical genetics. Volume 68, Number 3, January 1997, pp. 350-356, PMID 9024571 .

[4] Chudley-McCullough syndrome. In: Online Mendelian Inheritance in Man . (English)

[5] T. Chapman, FA Perez, GE Ishak, D. Doherty: Prenatal diagnosis of Chudley-McCullough syndrome. In: American journal of medical genetics. Part A. Volume 170, number 9, 09 2016, pp. 2426-2430, doi: 10.1002 / ajmg.a.37806 , PMID 27312216