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JYMS : Journal of Yeungnam Medical Science

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Changho Kim 1 Article
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
Changho Kim, Jin-Sung Park
Yeungnam Univ J Med. 2020;37(4):341-344.   Published online July 31, 2020
DOI: https://doi.org/10.12701/yujm.2020.00472
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AbstractAbstract PDF
Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

JYMS : Journal of Yeungnam Medical Science