A Case of Transverse Colon Volvulus With Hemoperitoneum in Menkes Disease

Menkes disease is an X-linked recessive disorder of copper metabolism resulting in impaired activity of lysyl oxidase, a cuproenzyme essential for collagen and elastin cross-linking. The resulting connective tissue fragility underlies many phenotypic features of the disease. We report the case of a 23-year-old man with Menkes disease who developed massive hemoperitoneum secondary to transverse colon volvulus around an intra-abdominal adhesion band. We hypothesize that copper-dependent connective tissue abnormalities predisposed this patient to adhesion formation. This case highlights a potential mechanistic link between copper transport deficiency, abnormal peritoneal healing, and life-threatening gastrointestinal complications.

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Publication Details

Journal
Annals of Internal Medicine Clinical Cases
Published
2026-02-01
DOI
https://doi.org/10.7326/aimcc.2025.1096
Primary Topic
Trace Elements in Health
Type
article
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article

A Case of Transverse Colon Volvulus With Hemoperitoneum in Menkes Disease

Jinye Liu, Kena Lemu, Saeed S. Graham
Annals of Internal Medicine Clinical Cases
Trace Elements in Health
article

A Case of Transverse Colon Volvulus With Hemoperitoneum in Menkes Disease

Jinye Liu, Kena Lemu, Saeed S. Graham
article en

Abstract

Menkes disease is an X-linked recessive disorder of copper metabolism resulting in impaired activity of lysyl oxidase, a cuproenzyme essential for collagen and elastin cross-linking. The resulting connective tissue fragility underlies many phenotypic features of the disease. We report the case of a 23-year-old man with Menkes disease who developed massive hemoperitoneum secondary to transverse colon volvulus around an intra-abdominal adhesion band. We hypothesize that copper-dependent connective tissue abnormalities predisposed this patient to adhesion formation. This case highlights a potential mechanistic link between copper transport deficiency, abnormal peritoneal healing, and life-threatening gastrointestinal complications.

Annals of Internal Medicine Clinical CasesVol. 5(2)
East Carolina University (US), Baptist Health Floyd (US)
Good health and well-being
Openalex Percentile: Top 52%
Trace Elements in Health
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