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Neuropediatrics 2012; 43(01): 044-047
DOI: 10.1055/s-0032-1307451
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

Thomas Kau
1   Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland
2   Klinikum Klagenfurt, Institute of Diagnostic and Interventional Radiology, Klagenfurt, Austria
,
Dorothe Veraguth
3   Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Zurich, Zurich, Switzerland
,
Heinrich Schiegl
1   Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland
,
Ianina Scheer
1   Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland
,
Eugen Boltshauser
4   Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland
› Institutsangaben
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Publikationsverlauf

04. Juli 2011

23. Dezember 2011

Publikationsdatum:
19. März 2012 (online)

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Abstract

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.

Keywords

sensorineural hearing loss - corpus callosum dysgenesis - colpocephaly - gray matter heterotopia - cerebellar dysplasia
 

  • References

  • 1 Mehra S, Eavey RD, Keamy Jr DG. The epidemiology of hearing impairment in the United States: newborns, children, and adolescents. Otolaryngol Head Neck Surg 2009; 140 (4) 461-472
    CrossrefPubMedGoogle Scholar
  • 2 Kral A, O'Donoghue GM. Profound deafness in childhood. N Engl J Med 2010; 363 (15) 1438-1450
    CrossrefPubMedGoogle Scholar
  • 3 Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991; 630: 16-31
    CrossrefPubMedGoogle Scholar
  • 4 Chudley AE, McCullough C, McCullough DW. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. Am J Med Genet 1997; 68 (3) 350-356
    CrossrefPubMedGoogle Scholar
  • 5 Matteucci F, Tarantino E, Bianchi MC , et al. Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. Am J Med Genet A 2006; 140 (11) 1183-1188
    PubMedGoogle Scholar
  • 6 Hendriks YMC, Laan LAEM, Vielvoye GJ, van Haeringen A. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. Am J Med Genet 1999; 86 (2) 183-186
    CrossrefPubMedGoogle Scholar
  • 7 Nadkarni TD, Menon RK, Shah AH, Goel A. Chudley McCullough syndrome. Childs Nerv Syst 2008; 24 (5) 541-544
    CrossrefPubMedGoogle Scholar
  • 8 Østergaard E, Pedersen VF, Skriver EB, Brøndum-Nielsen K. Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. Am J Med Genet A 2004; 124A (1) 74-78
    CrossrefPubMedGoogle Scholar
  • 9 Barkovich AJ, Simon EM, Walsh CA. Callosal agenesis with cyst: a better understanding and new classification. Neurology 2001; 56 (2) 220-227
    CrossrefPubMedGoogle Scholar
  • 10 Alrashdi I, Barker R, Patton MA. Chudley-McCullough syndrome: another report and a brief review of the literature. Clin Dysmorphol 2010; 20: 107-110
    PubMedGoogle Scholar
  • 11 Lemire EG, Stoeber GP. Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. Am J Med Genet 2000; 90 (2) 127-130
    CrossrefPubMedGoogle Scholar
  • 12 Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. Chudley-McCullough syndrome: expanded phenotype and review of the literature. Am J Med Genet A 2003; 119A (1) 71-76
    CrossrefPubMedGoogle Scholar