Abstract
Pure sensory polyneuropathy of genetic origin is rare in childhood and hence important to document the clinical and genetic etiologies from single or multi-center studies. This study focuses on a retrospective chart-review of neurological examinations and genetic and electrodiagnostic data of confirmed sensory polyneuropathy in subjects at a tertiary-care Children’s Hospital from 2013 to 2019. Twenty subjects were identified and included. Neurological examination and electrodiagnostic testing showed gait-difficulties, absent tendon reflexes, decreased joint-position, positive Romberg’s test and large fiber sensory polyneuropathy on sensory nerve conduction studies in all patients associated with lower-extremity spasticity (6), cardiac abnormalities or cardiomyopathy (5), developmental delay (4), scoliosis (3), epilepsy (3) and hearing-difficulties (2). Confirmation of genetic diagnosis in correlation with clinical presentation was obtained in all cases (COX20 n = 2, HADHA n = 2, POLG n = 1, FXN n = 4, ATXN2 n = 3, ATM n = 3, GAN n = 2, SPG7 n = 1, ZFYVE26 n = 1, FH n = 1). Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. We also present our cohort data in light of clinical features reported for each gene-specific disease subtype in the literature and highlight the importance of genetic testing in the relevant clinical context of electrophysiological findings of peripheral sensory polyneuropathy.
Highlights
Pure sensory polyneuropathy of genetic origin is rare in childhood and important to document the clinical and genetic etiologies from single or multi-center studies
We retrospectively analyzed pure sensory polyneuropathy cases of genetic origin seen over a period of 7 years at a tertiary care Children’s hospital electrodiagnostic laboratory (Table 1) and performed an English literature search for each gene-specific disease type (Table 2)
Limited by the heterogeneity of different sequencing tests performed at physician discretion, thorough analyses of a single-center experience of childhood genetic sensory polyneuropathy are needed to understand the etiologies and variabilities of each disease subtype
Summary
Pure sensory polyneuropathy of genetic origin is rare in childhood and important to document the clinical and genetic etiologies from single or multi-center studies. Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. Abbreviations EDX Electrodiagnostic SNAPs Sensory nerve action potentials OMIM Online Mendelian inheritance of man (https://www.omim.org/) COX20 Cytochrome C oxidase assembly factor POLG Polymerase gamma HADHA Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase FXN Frataxin ATXN2 Ataxin-2 ATM Ataxia-telangiectasia mutated ZFYVE26 Zinc finger FYVE-type containing 26 FH Fumarate hydratase SPG Spastic paraplegia. We describe a single center pediatric electrodiagnostic (EDX) laboratory experience identifying pure sensory polyneuropathy on nerve conduction study (NCS) with detailed clinical features and genetic etiologies and compared each subtype findings to available English literature on rare inherited sensory polyneuropathies
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