ArticleChild neurology open
Article in Child neurology open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed, 4 citations in OpenAlex.
No citing paper in PubMed yet.
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 test in patients suspected to have a small fiber neuropathy where electrophysiological testing may be normal and who may present with non-specific symptoms including hypotonia and failure to thrive. The information gained can guide genetic testing and contribute to interpretation of new variants identified.
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Registered trials
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