Clinical and Electrophysiological Spectrum of Inherited Neuropathies in Children: Experience in a Tertiary Neurology Hospital in a Country with Limited Resources

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.