Abstract
A 10-year-old Caucasian male returned with his parents to his pediatrician’s office for genetic counseling and sample acquisition to undergo genetic testing for a specific disorder. He was conceived via sperm donation and born with bilateral congenital hip dislocation to a 27-year-old G1P0 mother. Developmental delay, hyptonia, and megalocephaly were noted at six months of age, at which time computed tomography (CT) evaluation demonstrated lateral and third ventricles of high-normal size with bilateral frontal extra-axial fluid. Further magnetic resonance imaging (MRI) evaluation revealed mild hydrocephalus with excess subdural fluid and increased ventricular size. An electro-encephalogram (EEG) was normal, as was a laboratory workup which included creatine phosphokinase, lactate, and pyruvate levels as well as urine organic acids.
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References
Bird TD (2010) Charcot-Marie-Tooth hereditary neuropathy overview (last revised, 09/14/2010), Gene Reviews; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cmt. Accessed 30 Sept 2010
Nicholson GD (2006) The dominantly inherited motor and sensory neuropathies: clinical and molecular advances. Muscle Nerve 33:587–597
Szigeti K, Lupski J (2009) Charcot-Marie-Tooth disease. Eur J Hum Genet 17:703–710
www.mrc-holland.com – further information on MLPA including specific information relevant to CMT1 testing. Accessed 31 July 2010
Committee on Ethics (American Academy of Pediatrics) (2001) Ethical issues with genetic testing in pediatrics. Pediatrics 107:1451–1455; (reaffirmed 2005, 2009)
Szigeti K, Nelis E, Lupski JR (2006) Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med 8:243–254
Saifi GM, Szigeti K, Snipes GJ et al (2003) Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med 51:261–283
Pareyson D, Scaioli V, LaurĂ M (2006) Clinical and electrophysiological aspects Charcot-Marie-Tooth disease. NeuroÂmolecular Med 8:3–22
Klein CJ, Dyck PJ (2005) Genetic testing in inherited peripheral neuropathies. J Peripher Nerv Syst 10:77–84
Hastings PJ, Lupski JR, Rosenberg SM et al (2009) Mechanisms of change in gene copy number. Nat Rev Genet 10:551–564
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© 2011 Springer-Verlag Berlin Heidelberg
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Wang, Z.B., Kant, J.A. (2011). Charcot-Marie-Tooth Disease. In: Schrijver, I. (eds) Diagnostic Molecular Pathology in Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-19677-5_4
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DOI: https://doi.org/10.1007/978-3-642-19677-5_4
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