Alshammari Malak, Aljohani Malak A, Hashash Joud M, Alsaedi Hatim A, Alobaidi Waad Y, Alhuzali Nouf K, Alnumani Mohammed S, Alrashidi Asrar H, Al-Battniji Sulaiman A, Alotaibi Naif A, Alhumaidi Nouran K, Alajaimi Ahmed N, Alqurashi Rawabi S, Albishri Abdulrahman T, Alshammari Khalid H
College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, SAU.
College of Medicine, Batterjee Medical College, Jeddah, SAU.
Cureus. 2021 Nov 9;13(11):e19391. doi: 10.7759/cureus.19391. eCollection 2021 Nov.
Diarrhea remains an important cause of morbidity and mortality worldwide. Chronic diarrhea often represents a diagnostic challenge for family medicine and pediatric physicians because of its broad spectrum of possible etiologies. The differential diagnoses can be narrowed by taking a detailed history and performing an appropriate physical examination. In general, chronic diarrhea can be due to osmotic, secretory, inflammatory, or dysmotility-related pathologies. We present the case of a 30-month-old male who was brought to the family medicine clinic with a complaint of abdominal bloating and persistent diarrhea after every feeding for four months. His stools were foul-smelling and occurred more than four times a day. The patient was below the second standard deviations for weight and height. He appeared pale, and there was no scleral icterus. The patient underwent upper endoscopy, which showed no abnormal gross findings. A dedicated abdominal computed tomography scan was performed to evaluate the pancreas for any structural abnormalities. The scan demonstrated complete replacement of the pancreatic parenchyma by fatty tissue. The diagnosis of Shwachman-Diamond syndrome was established as the analysis revealed a mutation in the SBDS gene. The patient was treated with pancreatic enzyme replacement therapy. After two months of follow-up, the parents reported that the patient had significant improvement in diarrhea. Shwachman-Diamond syndrome is a very rare inherited disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, and skeletal abnormalities. Despite its rarity, clinicians should keep a high index for this condition when they encounter a child with unexplained chronic diarrhea.
腹泻仍是全球发病和死亡的重要原因。慢性腹泻由于其可能的病因范围广泛，常常给家庭医学和儿科医生带来诊断挑战。通过详细询问病史和进行适当的体格检查，可以缩小鉴别诊断范围。一般来说，慢性腹泻可能由渗透性、分泌性、炎症性或动力障碍相关的病理状况引起。我们报告一例30个月大男性病例，该患儿因腹胀及持续四个月每次进食后腹泻被带到家庭医学诊所。他的粪便有臭味，每天发作超过四次。该患者体重和身高低于第二个标准差。他面色苍白，无巩膜黄染。患者接受了上消化道内镜检查，未发现明显异常大体表现。进行了专门的腹部计算机断层扫描以评估胰腺是否存在任何结构异常。扫描显示胰腺实质完全被脂肪组织替代。由于分析显示SBDS基因突变，故确诊为施瓦赫曼-戴蒙德综合征。该患者接受了胰酶替代疗法治疗。经过两个月的随访，家长报告患者腹泻有显著改善。施瓦赫曼-戴蒙德综合征是一种非常罕见的遗传性疾病，其特征为骨髓衰竭、外分泌胰腺功能障碍和骨骼异常。尽管罕见，但临床医生在遇到不明原因慢性腹泻的儿童时，应高度警惕这种疾病。
