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Case 29 - Hereditary Sensory and Autonomic Neuropathy (HSAN) Type 4

from Peripheral Neuropathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

Within a period of a few days, a 34-year-old woman developed progressive weakness of the right leg without pain. Having suffered spontaneous bone fractures as a child, she had been diagnosed with insensitivity to pain syndrome. She had never been able to perspire; this meant warm weather was not well tolerated and it resulted in an increase in body temperature. The tip of the right thumb had been amputated following a skin ulcer (‘panaritium’).

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Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 151 - 153
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Farrugia, PR, Bednar, D, Oitment, C. Charcot arthropathy of the spine. J Am Acad Orthop Surg 2022;30(21):e1358e1365. doi: 10.5435/JAAOS-D-22-00212. Epub 2022 Aug 25. PMID: 36007201.Google ScholarPubMed
Fridman, V, Suriyanarayanan, S, Novak, P, et al. Randomized trial of L-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology 2019;92(4):e359e370. doi: 10.1212/WNL.0000000000006811. Epub 2019 Jan 9. PMID: 30626650; PMCID: PMC6345118.CrossRefGoogle ScholarPubMed
González-Duarte, A, Cotrina-Vidal, M, Kaufmann, H, Norcliffe-Kaufmann, L. Familial dysautonomia. Clin Auton Res 2023;33(3):269280. doi: 10.1007/s10286-023-00941-1. Epub 2023 May 19. PMID: 37204536.CrossRefGoogle ScholarPubMed
Schwartzlow, C, Kazamel, M. Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep 2019;19(8):52. doi: 10.1007/s11910-019-0974-3. PMID: 31222456.CrossRefGoogle ScholarPubMed
Sethi, PK, Sethi, NK. Charcot joint. Ann Neurol 2022;91(3):436437. doi: 10.1002/ana.26310. Epub 2022 Feb 10. PMID: 35084055CrossRefGoogle ScholarPubMed

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