Milhem Fathi S, Awashra Ameer, Hamshary Husam, Sawaftah Zaid, Khaled Amr, Nabresi Noor, Salman Israa
Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, PSE.
Department of Medicine, An-Najah National University, Nablus, PSE.
Cureus. 2024 Aug 2;16(8):e66033. doi: 10.7759/cureus.66033. eCollection 2024 Aug.
Cohen syndrome (CS) is a rare autosomal recessive disorder marked by developmental delays, distinct facial features, and a variety of systemic manifestations. We present a case of a 28-year-old male previously misdiagnosed with Prader-Willi syndrome who exhibited recurrent generalized weakness, fever, fatigue, and significant hemoglobin drops requiring multiple blood transfusions due to thalassemia major. The patient displayed characteristic CS features, including developmental delays, distinct facial characteristics, morbid obesity, and heterochromia iridis. Severe gastrointestinal bleeding led to a diagnosis of ulcerative colitis (UC) via colonoscopy. Management included blood transfusions, hydrocortisone, mesalamine, and azathioprine, resulting in stabilized UC and improved overall health. CS presents with a spectrum of clinical features that overlap with other syndromic conditions, necessitating careful differential diagnosis. Early diagnosis and supportive care significantly improve quality of life and help manage complications effectively.
科恩综合征（CS）是一种罕见的常染色体隐性疾病，其特征为发育迟缓、独特的面部特征以及多种全身表现。我们报告一例28岁男性病例，该患者曾被误诊为普拉德-威利综合征，表现为反复出现的全身无力、发热、疲劳，以及因重型地中海贫血导致血红蛋白显著下降，需要多次输血。患者表现出典型的CS特征，包括发育迟缓、独特的面部特征、病态肥胖和虹膜异色症。严重的胃肠道出血经结肠镜检查诊断为溃疡性结肠炎（UC）。治疗措施包括输血、氢化可的松、美沙拉嗪和硫唑嘌呤，使UC病情稳定，整体健康状况得到改善。CS具有一系列与其他综合征性疾病重叠的临床特征，需要仔细进行鉴别诊断。早期诊断和支持性治疗可显著提高生活质量，并有助于有效管理并发症。
