Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
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 clinic...
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Yeungnam University College of Medicine
2020-10-01
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doaj-32df8ae4374b44248720445abaf6b5db2020-11-25T04:03:48ZengYeungnam University College of MedicineYeungnam University Journal of Medicine2384-02932020-10-0137434134410.12701/yujm.2020.004722507Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency departmentChangho Kim0Jin-Sung Park1 Department of Emergency Medicine, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea Department of Neurology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, KoreaHereditary 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.http://www.e-yujm.org/upload/pdf/yujm-2020-00472.pdfhereditary sensory and motor neuropathyparesisperipheral myelin protein 22rare diseaseyoung adult |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Changho Kim Jin-Sung Park |
spellingShingle |
Changho Kim Jin-Sung Park Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department Yeungnam University Journal of Medicine hereditary sensory and motor neuropathy paresis peripheral myelin protein 22 rare disease young adult |
author_facet |
Changho Kim Jin-Sung Park |
author_sort |
Changho Kim |
title |
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department |
title_short |
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department |
title_full |
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department |
title_fullStr |
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department |
title_full_unstemmed |
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department |
title_sort |
clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department |
publisher |
Yeungnam University College of Medicine |
series |
Yeungnam University Journal of Medicine |
issn |
2384-0293 |
publishDate |
2020-10-01 |
description |
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. |
topic |
hereditary sensory and motor neuropathy paresis peripheral myelin protein 22 rare disease young adult |
url |
http://www.e-yujm.org/upload/pdf/yujm-2020-00472.pdf |
work_keys_str_mv |
AT changhokim clinicalcharacteristicsofhereditaryneuropathywithliabilitytopressurepalsypresentingwithmonoparesisintheemergencydepartment AT jinsungpark clinicalcharacteristicsofhereditaryneuropathywithliabilitytopressurepalsypresentingwithmonoparesisintheemergencydepartment |
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