Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines

Abstract

Disorders of the peripheral nerves can be caused by a broad spectrum of acquired or hereditary aetiologies. The objective of these practice guidelines is to provide the reader with information about the differential diagnostic workup for a target-oriented diagnosis. Following an initiative of the German-speaking Society of Neuropaediatrics, delegates from 10 German societies dedicated to neuroscience worked in close co-operation to write this guideline. Applying the Delphi methodology, the authors carried out a formal consensus process to develop practice recommendations. These covered the important diagnostic steps both for acquired neuropathies (traumatic, infectious, inflammatory) and the spectrum of hereditary Charcot–Marie–Tooth (CMT) diseases. Some of our most important recommendations are that: (i) The indication for further diagnostics must be based on the patient’s history and clinical findings; (ii) Potential toxic neuropathy also has to be considered; (iii) For focal and regional neuropathies of unknown aetiology, nerve sonography and MRI should be performed; and (iv) For demyelinated hereditary neuropathy, genetic diagnostics should first address PMP22 gene deletion: once that has been excluded, massive parallel sequencing including an analysis of relevant CMT-genes should be performed. This article contains a short version of the guidelines. The full-length text (in German) can be found at the Website of the “Arbeitsgemeinschaft der Wissenschftlichen Medizinischen Fachgesellschaften e.V. (AWMF), Germany.

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

“…The clinical and genetic profiles are quite similar to that observed in previous studies, 6,18,19 that provide clear data on prominent occurrence of CMT1 demyelinated forms, much higher than that of CMT2 axonal, with an outstanding contribution of CMT1A, which are in contrast with the preponderance of axonal forms in childhood-and infancy-onset cases reported in Thailand. 20 CMT1A is the most common genetic subtype of CMT in both childhood-and adulthood-onset presentation.…”

“…20 CMT1A is the most common genetic subtype of CMT in both childhood- and adulthood-onset presentation. 21 The genetic basis detected in our study involves the same three most commons genes associated with demyelinating CMT in children ( PMP22 , GJB1 , and MPZ ), 6 disclosing also how uncommon are CMT4 cases in clinical practice.…”

“…This approach is similar to the recently proposed diagnostic work-up. 6 We have included only patients with missense, nonsense, or deletions in genes previously reported in association with inherited neuropathies and with pathogenic or possibly pathogenic variant classification, according to the American College of Medical Genetics and Genomics revised criteria 2015. 13 Other prognostic, functional, and disability scores were not evaluated during this study.…”

“…There is a marked overlap of genetic basis involving different neurogenetic disorders, such as CMT, hereditary spastic paraplegia, non-5q spinal muscular atrophies, and early-onset and juvenile amyotrophic lateral sclerosis. 4 5 6…”

Neurophysiological differential diagnostic markers in hereditary neuropathy with liability to pressure palsies and chronic inflammatory demyelinating polyradiculoneuropathy

“…Из приобретенных хронических нейропатий с первично демиелинизирующим поражением периферических нервов самой распространенной является хроническая воспалительная демиелинизирующая полирадикулонейропатия (ХВДП) -типичная ХВДП и ее варианты [5], из наследственных форм -наследственная моторно-сенсорная нейропатия 1А типа (НМСН 1А) и наследственная нейропатия со склонностью к параличам от сдавления (ННСПС) [6,7]. Проблеме дифференциальной диагностики ХВДП и НМСН 1А в литературе уделено достаточно внимания [8][9][10], но при этом отличительные особенности ХВДП и ННСПС четко не обозначены. Кажущиеся на первый взгляд очевидными дифференциально-диагностические различия между ХВДП и ННСПС на практике вызывают большие трудности [4,11]: для обсуждаемых нозологических форм характерно ремиттирующее течение, наследственный анамнез ННСПС часто не прослеживается, а глюкокортикостероиды дают положительный эффект в обоих случаях (в той или иной степени).…”