NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.

ABSTRACT: Hereditary sensory and autonomic neuropathies (HSAN) are rare, genetically inherited disorders characterized by impaired unmyelinated nerve fiber function. Here we report a patient with self-mutilation behavior and decreased response to pain, suggestive of an underlying small fiber neuropathy. Nerve conduction studies were normal but sympathetic skin response was absent at the left arm. Intradermal histamine challenge test was performed to evaluate the function of small unmyelinated nerve fibers and revealed absence of a flare response. Using whole genome sequencing, a novel variant in the neurotrophic tyrosine kinase type 1 gene was identified, expanding the known disease-causing variants associated with HSAN type 4. Through this case, we demonstrate the role of the histamine challenge te

SUBMITTER: Mirchi A 

PROVIDER: S-EPMC9218906 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature