Clinical and Electrophysiological Spectrum of Inherited Neuropathies in Children: Experience in a Tertiary Neurology Hospital in a Country with Limited Resources
Asian Journal of Research and Reports in Neurology,
Background: Inherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations. The study aimed to evaluate the clinical and electrophysiological profiles of children with inherited neuropathies and categorize them under various inherited neuropathies considering the clinical and electrophysiological parameters.
Study design: This was a hospital-based retrospective observational study.
Place and duration of study: The study was taken place in the department of Neurophysiology at a tertiary care hospital in Bangladesh. The duration of the study was three years, from January 2018 to December 2020.
Methodology: A total of 38 children with inherited neuropathies aged 0-17 years were included in the study. Considering the clinical, electrodiagnostic data, and other investigation reports obtained by review of medical records, we categorized the patient as having hereditary neuropathy affecting primarily the peripheral nervous system (PNS) and neuropathy as a part of other neurologic or multisystem disorders. Charcot-Marie-Tooth disease (CMT) was further divided depending on the electrophysiological findings.
Results: Among 38 enrolled children, 52.63% were male. Their mean age at the time of enrollment was 8.69 ±3.55 years. Family history of the same type of disease was found in 13.16% of cases and consanguinity was present in 15.79% of cases. Most of the children (78.95%) had neuropathy primarily involving the PNS. CMT1 (44.74%) was the most frequent phenotype among all inherited neuropathies, followed by CMT2 (18.42%). Frequently observed clinical findings of CMT include weakness (92.86%), small muscle wasting (78.57%), reduced or loss of deep tendon reflexes (96.42%), and foot deformities (57.14%). Only five patients received a definite genetic diagnosis.
Conclusions: The clinical spectrum of inherited neuropathies is diverse. Electrophysiological studies remain a powerful diagnostic tool in the evaluation of children with peripheral nerve disorders. Although CMT was the most frequent phenotype, neuropathy associated with other neurologic or multisystem disorders is not rare.
- Inherited neuropathy
- nerve conduction study
- peripheral nerves
How to Cite
Dyck PJ, Oviatt KF, Lambert EH. Intensive evaluation of unclassified neuropathies yields improved diagnosis. Ann Neurol. 1981;10:222–226.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Hereditary neuropathies: clinical presentation and genetic panel diagnosis. Deutsches Ärzteblatt International. 2018;115(6):91.
Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J. Hereditary neuropathies: update 2017. Neuropediatrics. 2017;48(04):282-93.
Klein CJ, Duan X, Shy ME. Inherited neuropathies: Clinical overview and update. Muscle & nerve. 2013;48(4):604-22.
Epub 2013 Jun 26.
Pisciotta C, Shy ME. Neuropathy. In: Geschwind DH, Paulson HL, Klein C, editors. Handbook of Clinical Neurology. Elsevier. 2018;148:653-665.
McMillan HJ, Ryan MM. Overview of pediatric peripheral neuropathies. Neuromuscular Disorders of Infancy, Childhood, and Adolescence. 2015;274-88.
McDonald CM. Peripheral neuropathies of childhood. Phys Med Rehabil Clin N Am. 2001;12(2):473-90.
Hagberg B, Westerberg B. The nosology of genetic peripheral neuropathies in Swedish children. Dev Med Child Neurol.1983;25(1):3-18.
Evans OB. Polyneuropathy in childhood. Pediatrics.1979;64(1):96-105.
Ouvrier RA, McLeod JG. Chronic peripheral neuropathy in childhood: an overview. Aust Pardiatr J.1988;24(Suppl. 1):80-2.
Kazamel M, Boes CJ. Charcot Marie Tooth disease (CMT): historical perspectives and evolution. J Neurol. 2015;262:801-805.
Epub 2014 Sep 9.
Pareyson D, Scaioli V, Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular medicine. 2006;8(1):3-22.
Murphy SM, Laura´ M, Reilly MM. DNA testing in hereditary neuropathies. Handb Clin Neurol. 2013;115: 213–232.
Fridman V, Bundy B, Reilly MM, et al.: CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015;86:873–8.
Garg M, Kulkarni SD, Hegde AU, Desai M, Sayed RJ. Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features. Ann Indian Acad Neurol. 2018;21(4):304-308.
Bindu PS, Mahadevan A, Taly AB, Christopher R, Gayathri N, Shankar SK. Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India. J Neurol Neurosurg Psychiatry. 2005;76(12):1698-701.
Mostacciuolo ML, Rampoldi L, Righetti E, Vazza G, Schiavon F, Angelini C. Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity. Neuromuscul Disord. 2000;10(7):497-502.
Linnemann C, Tezenas du Montcel S, Rakowicz M, Schmitz-Hübsch T, Szymanski S, Berciano J, van de Warrenburg BP, Pedersen K, Depondt C, Rola R, Klockgether T, García A, Mutlu G, Schöls L. Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6. Cerebellum. 2016;15(2):165-73.
Morral JA, Davis AN, Qian J. Pathology and pathogenesis of sensory neuropathy in Friedreich’s ataxia. Acta Neuropathol. 2010;120:97–108.
Pareyson D, Piscosquito G, Moroni I, Salsano E, Zeviani M. Peripheral neuropathy in mitochondrial disorders. The Lancet Neurology. 2013;12(10):1011-24.
Rudnik-Schöneborn S, Tölle D, Senderek J, et al. Diagnostic algorithmsin Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016;89(01):34–43.
Epub 2015 Apr 29.
Ouvrier R, Geevasingha N, Ryan MM. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve. 2007;36(2):131–143
Rotthier A, Baets J, Timmerman V, Janssens K: Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol. 2012;8:73–85.
Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69(1):22-33.
Abstract View: 48 times
PDF Download: 18 times