Journal of Yeungnam Medical Science

Case report

Emergency and Critical Care Medicine
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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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.

Citations

Citations to this article as recorded by

Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies
Limin Chen, Hongbo Zhang, Chunnv Li, Nuo Yang, Jiangtao Wang, Jianmin Liang
Journal of Neurology.2025;[Epub] CrossRef
A 30-year-old male patient who experienced recurring weakness in bilateral upper and lower extremities: a clinical vignette
Soo Hyun Ahn, Mathieu Boudier-Revéret, Seoyon Yang, Min Cheol Chang
Journal of Yeungnam Medical Science.2025; 42: 27. CrossRef

Case Reports

Endocrinology, Diabetes, and Metabolism
Osteochondroma of the Rib Mimicking a Mediastinal Mass: Unexpected Menifestation in Hereditary Multiple Exostoses.: Sang Kyun Bae, Won Sik Kang, Seung Hoon Yoo, Jeong Hyeon Cho, Kyung Won Park, Bu Hyun Lee, Jung Hun Baek, Jae Ho Chung; Yeungnam Univ J Med. 2012;29(1):45-47. Published online June 30, 2012; DOI: https://doi.org/10.12701/yujm.2012.29.1.45

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Abstract PDF

Osteochondroma is a common bone tumor but a rare tumor in the rib. It is often asymptomatic and observed incidentally. This is a case report of a 49-year-old woman with an osteochondroma mimicking a mediastinal mass in hereditary multiple exostoses. The chest X-ray and computed tomography (CT) scans revealed the bony density feature of the mass. Surgical excision confirmed that the lesion was an osteochondroma.

Citations

Citations to this article as recorded by

Spontaneous pneumothorax in a 17-year-old male patient with multiple exostoses: A case report and review of the literature
Koichi Nakamura, Kunihiro Asanuma, Akira Shimamoto, Shinji Kaneda, Keisuke Yoshida, Yumi Matsuyama, Tomohito Hagi, Tomoki Nakamura, Motoshi Takao, Akihiro Sudo
World Journal of Orthopedics.2021; 12(11): 945. CrossRef
COSTAL OSTEOCHONDROMA OF RIB: CASE REPORT
Chandra Sekharam Naidu M, Sankara Rao S, Murali Krishna Ch. V., Srinivasa Rao K, Ashok Kumar P
Journal of Evidence Based Medicine and Healthcare.2015; 2(17): 2624. CrossRef

Neurology
A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA.: Yun Seok Jung, Seung Kwon Park, Seung Yeop Lee, Jung Sang Hah, Mee Yeoung Park, Se Jin Lee, Jun Lee; Yeungnam Univ J Med. 1999;16(1):114-118. Published online June 30, 1999; DOI: https://doi.org/10.12701/yujm.1999.16.1.114

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Abstract PDF: Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy, we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.

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