Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature

TL;DR

This paper presents a case of a rare inherited nerve disorder and emphasizes the importance of genetic testing and skin biopsies for diagnosis and understanding.

Contribution

The study confirms a genetic cause for HSAN 2A and suggests skin biopsy as a useful diagnostic tool.

Findings

A homozygous pathogenic variant in the WNK1 gene was identified in a patient with HSAN 2A.

Skin biopsy may help detect autonomic abnormalities in HSAN 2A.

The case highlights the need for genetic confirmation in early-onset neuropathies.

Abstract

We report a case of hereditary sensory and autonomic neuropathy presenting with childhood-onset symmetric distally predominant limb hypoesthesia to tactile, thermal, and painful stimuli. Exome sequencing identified a homozygous pathogenic variant in the with-no-lysine (K) kinase 1 (WNK1), lysine deficient protein kinase 1 gene. The clinical, electrophysiological, and genetic findings confirmed a diagnosis of hereditary sensory and autonomic neuropathy type 2A (HSAN 2A). This case highlights the importance of genetic confirmation in the evaluation of early-onset neuropathies, especially when the most common causes have been ruled out. Significantly, our observations underscore the potential role of skin biopsy in identifying autonomic abnormalities in HSAN 2, possibly contributing to a better understanding of these rare neuropathies. We also reviewed the reported cases of this disease in the literature to highlight its phenotypic variability.

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