Paeds Vivas · neurology-neurodisability-and-neuromuscular
Peripheral neuropathies: Viva
Branching clinical structured oral on paediatric peripheral neuropathies covering the Charcot-Marie-Tooth classification with CMT1A from PMP22 duplication and CMT2A from MFN2, the nerve conduction velocity threshold of thirty-eight metres per second, the clinical phenotype of pes cavus and distal wasting, the chronic inflammatory demyelinating polyradiculoneuropathy criterion of more than eight weeks and its treatment with intravenous immunoglobulin and corticosteroids, the acquired neuropathies including diabetic and chemotherapy-induced, the vincristine precaution in suspected Charcot-Marie-Tooth disease, and the Yiu 2022 paediatric management guideline.
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Branch 1: Classifying the neuropathies of childhood
A strong candidate sorts peripheral neuropathies along two axes: hereditary versus acquired, and demyelinating versus axonal. The hereditary family is dominated by Charcot-Marie-Tooth disease, the commonest inherited neuromuscular disorder with a prevalence of around one in two thousand five hundred, and CMT1A from a PMP22 duplication accounts for around half of all cases. The acquired family is dominated by treatable immune neuropathies, the most important being chronic inflammatory demyelinating polyradiculoneuropathy. The second axis is read off the nerve conduction study: demyelinating disease slows the velocity, and axonal disease reduces the amplitude. [1]
References7ShowHide
- [1]Pareyson D, Marchesi C Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol, 2009.PMID 19539237
- [2]Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell, 1991.PMID 1677316
- [3]Chance PF, Alderson MK, Leppig KA, et al DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell, 1993.PMID 8422677
- [6]Yiu EM, Bray P, Baets J, et al Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry, 2022.PMID 35140138
- [8]Bunschoten C, Jacobs BC, Van den Bergh PYK, et al Progress in diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy. Lancet Neurol, 2019.PMID 31076244
- [9]Fernandez-Garcia MA, Stettner GM, Kinali M, et al Genetic neuropathies presenting with CIDP-like features in childhood. Neuromuscul Disord, 2021.PMID 33386210
- [11]Bjornard KL, Gilchrist LS, Inaba H, et al Peripheral neuropathy in children and adolescents treated for cancer. Lancet Child Adolesc Health, 2018.PMID 30236383