Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient

Patients with inflammatory bowel disease (IBD) are at risk of developing malnutrition, severe dystrophic muscle weakness, and muscle atrophy. We present a case of a 33-year-old male patient who exhibited concurrent muscle atrophy, muscle weakness, diarrhea, and mucopurulent bloody stools. Notably, t...

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Main Authors: Limin Li, Qiong Yan, Mingming Deng, Muhan Lü, Tiejun Zhou, Xiaolin Zhong
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Medicine
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Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2024.1481780/full
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author Limin Li
Qiong Yan
Mingming Deng
Muhan Lü
Tiejun Zhou
Xiaolin Zhong
author_facet Limin Li
Qiong Yan
Mingming Deng
Muhan Lü
Tiejun Zhou
Xiaolin Zhong
author_sort Limin Li
collection DOAJ
description Patients with inflammatory bowel disease (IBD) are at risk of developing malnutrition, severe dystrophic muscle weakness, and muscle atrophy. We present a case of a 33-year-old male patient who exhibited concurrent muscle atrophy, muscle weakness, diarrhea, and mucopurulent bloody stools. Notably, the patient reported that his household or family members experienced similar symptoms of muscle weakness, without any apparent neurological or psychiatric manifestations. The patient’s intestinal symptoms were most consistent with ulcerative colitis, while the muscle weakness originated from dysferlinopathy following a comprehensive diagnostic work-up. The patient was initiated on vedolizumab therapy and L-carnitine therapy, and his symptoms improved after 1 month of follow-up. This case study underscores the necessity for clinicians to maintain a high level of suspicion for the presence of concomitant diseases when encountering IBD patients with muscle weakness. This approach is essential for achieving an early diagnosis and treatment.
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publisher Frontiers Media S.A.
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spelling doaj-art-4d1251ef38fb4a538eb194dd4e56cc052025-01-22T07:14:35ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-01-011110.3389/fmed.2024.14817801481780Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patientLimin Li0Qiong Yan1Mingming Deng2Muhan Lü3Tiejun Zhou4Xiaolin Zhong5Department of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaPatients with inflammatory bowel disease (IBD) are at risk of developing malnutrition, severe dystrophic muscle weakness, and muscle atrophy. We present a case of a 33-year-old male patient who exhibited concurrent muscle atrophy, muscle weakness, diarrhea, and mucopurulent bloody stools. Notably, the patient reported that his household or family members experienced similar symptoms of muscle weakness, without any apparent neurological or psychiatric manifestations. The patient’s intestinal symptoms were most consistent with ulcerative colitis, while the muscle weakness originated from dysferlinopathy following a comprehensive diagnostic work-up. The patient was initiated on vedolizumab therapy and L-carnitine therapy, and his symptoms improved after 1 month of follow-up. This case study underscores the necessity for clinicians to maintain a high level of suspicion for the presence of concomitant diseases when encountering IBD patients with muscle weakness. This approach is essential for achieving an early diagnosis and treatment.https://www.frontiersin.org/articles/10.3389/fmed.2024.1481780/fullulcerative colitisdysferlinopathyDYSF mutationmuscle weaknesscase report
spellingShingle Limin Li
Qiong Yan
Mingming Deng
Muhan Lü
Tiejun Zhou
Xiaolin Zhong
Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient
Frontiers in Medicine
ulcerative colitis
dysferlinopathy
DYSF mutation
muscle weakness
case report
title Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient
title_full Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient
title_fullStr Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient
title_full_unstemmed Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient
title_short Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient
title_sort case report a co existing case of ulcerative colitis and dysferlinopathy in a male patient
topic ulcerative colitis
dysferlinopathy
DYSF mutation
muscle weakness
case report
url https://www.frontiersin.org/articles/10.3389/fmed.2024.1481780/full
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