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Chudley-McCullough Syndrome

Chudley Mccullough Syndrome


Presentation

  • Despite these striking brain malformations, individuals with CMS generally do not present with significant neurodevelopmental abnormalities, except for hearing loss.[ncbi.nlm.nih.gov]
  • It is amply clear from the review of literature that treatment of ventricular dilatation or drainage of arachnoid cysts in these cases will not improve the sensorineural hearing loss.Case IllustrationA 14-month-old female child presented with bilateral[scipers.com]
  • CASE ILLUSTRATION A 14-month-old female child presented with bilateral profound sensorineural hearing loss. Neuroimaging revealed partial agenesis of the corpus callosum, colpocephaly, and an interhemispheric arachnoid cyst.[wwww.unboundmedicine.com]
Localized Pain
  • We decided to remove the valve of the non-functional ventriculo-atrial shunt, because of the local pain at the location of the valve.[elynsgroup.com]
Failure to Thrive
  • […] to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis.[mendelian.co]
  • […] to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter A #175100 Familial adenomatous polyposis 1 (FAP1) M #614937 Familial Cortical Myoclonus M #615999 Familial dysalbuminemic hyperthyroxinemia A #227645 Fanconi anemia[biochemgenetics.ca]
  • […] to thrive ACCV Aceruloplasminemia Acetazolamide-responsive congenital myotonia Acetazolamide-responsive myotonia Achalasia - addisonianism - alacrima syndrome ACHM Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondrogenesis[csbg.cnb.csic.es]
Vomiting
  • […] and 50% cases Ptosis Autosomal dominant inheritance Nystagmus Autosomal recessive inheritance Cognitive impairment Motor delay Hypertelorism Hypoplasia of the corpus callosum Ataxia Strabismus Milia Dilatation Microcephaly Pica Skin rash Macrocephaly Vomiting[mendelian.co]
  • […] syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic spinal muscular atrophy Diaphyseal dysplasia - anemia Diaphyseal medullary stenosis - bone malignancy Diaphyseal medullary stenosis - malignant fibrous histiocytoma Diarrhea-vomiting[csbg.cnb.csic.es]
Sloping Shoulders
  • Absence of radius * Underdeveloped first metacarpal * Underdeveloped radius * Ulna defects * Humerus defects * Clavicle defects * Scapula defects * Sternum defects * Reduced range of elbow motion * Reduced range of shoulder motion * Narrow shoulders * Sloping[checkorphan.org]
Papilledema
  • At the time, the diagnosis Chudley-McCullough syndrome was not known and she was not tested for papilledema. There was no ataxia, which could hint at a mass effect of the cyst.[elynsgroup.com]

Workup

  • To conclude, all patients with seizures and AC's must be meticulously searched for other structural abnormalities that may be present as well as undergo a detailed workup before proceeding on any surgery.[pediatricneurosciences.com]

Treatment

  • It is amply clear from the review of literature that treatment of ventricular dilatation or drainage of arachnoid cysts in these cases will not improve the sensorineural hearing loss.Case IllustrationA 14-month-old female child presented with bilateral[scipers.com]
  • Treatment: None Prognosis: Too few reported cases to summarize any pattern Ancillary treatments and support: Hearing evaluations and appropriate aids Specialists and specialty centers: Neurologist, audiologist, ENT References: Chudley, A.E., McCullough[wohproject.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[resourcerepository.org]

Prognosis

  • Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings.[ncbi.nlm.nih.gov]
  • It is important to diagnose CMS, since typically, patients with these types of brain malformations have very substantial developmental problems and seizures; therefore it is essential to diagnose CMS because the neurodevelopmental prognosis is quite good[depts.washington.edu]

Etiology

  • Routine brain MRIs during the etiological evaluation of individuals with hearing loss is not warranted until the frequency of GPSM2 mutations is established.[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • The child with a cephalocele: Etiology, neuroimaging, and outcome. Childs Nerv Syst 1996;12:540-50. 7. Lemire EG, Stoeber GP. Chudley-McCullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.[pediatricneurosciences.com]
  • Diabetes, and Obesity # 7 Zeinab A Elkabbany, Nancy S Elbarbary, Eman A Ismail, Nesrine A Mohamed, Dina Ragab, Shereen Abdel Alem, Yasmine M Ezzat, Sarah S Maurice, Noha U Hashem AIM: To identify the prevalence and effect of hepatopathies of different etiologies[readbyqxmd.com]
  • Etiologies include prenatal infections and exposure to teratogens, chromosomal aberrations, metabolic disorders, genetic syndromes, and brain malformations. These include primary malformative and secondary disruptive lesions.[cerebellumandataxias.biomedcentral.com]

Epidemiology

  • Morton NE (1991) Genetic epidemiology of hearing impairment. Ann NY Acad Sci 690:16–31 CrossRef Google Scholar 11.[link.springer.com]
  • In: Winn RH (ed) Youmans Neurological surgery Factors influencing the efficacy of universal newborn hearing screening Epidemiology of genetic hearing impairment[semanticscholar.org]
  • […] cystic kidney disease Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Genetic epidemiology of hearing impairment . Ann N Y Acad Sci 1991; 630: 16-31 3 Dror AA, Avraham KB. Hearing loss: mechanisms revealed by genetics and cell biology . Annu Rev Genet 2009; 43: 411-437 4 Chudley AE, McCullough C, McCullough DW.[thieme-connect.com]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
Sex distribution
Age distribution

Prevention

  • Prevention - Chudley-Mccullough syndrome Not supplied. Diagnosis - Chudley-Mccullough syndrome signs and symptoms of Holt-Oram Syndrome may vary on an individual basis for each patient.[checkorphan.org]
  • ) : Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany TAT : 3-5 weeks price : 690.00 Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene method(s) : Sequencing, Next Gen PreventionGenetics (Prevention[genetests.org]
  • We emphasize the importance of determining the right diagnosis for patients with this rare syndrome, to prevent unneeded surgical interventions and to facilitate proper treatment.[elynsgroup.com]
  • Prevention of deafness for patients carrying ototoxic antibiotic sensitive gene variants Pre-onset intervention of life-threatening or blindness for patients carrying gene variants in syndromic deafness, such as Jervell and Lange-Nielsen (hearing impairment[otogenetics.com]
  • Cancer Prevention Research ( Philadelphia, Pa ) 5 , 887 – 900 . Rost , S. , Bach , E. , Neuner , C. , Nanda , I. , Dysek , S. , Bittner , R. E. , Keller , A. , Bartsch , O. , Mlynski , R. , Haaf , T. , Müller , C. R. & Kunstmann , E. ( 2014 ).[cambridge.org]

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