Pediatrics Department, Sahloul University Hospital, 4054, Sousse, Tunisia.
Radiology Department, Sahloul University Hospital, 4054, Sousse, Tunisia.
J Med Case Rep. 2023 Mar 11;17(1):105. doi: 10.1186/s13256-023-03807-2.
Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare.
We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia. Chest X-ray showed diffuse alveolar infiltrates. Laboratory tests showed severe anemia with hemoglobin of 4.2 g/dl without hemolysis. A diagnosis of idiopathic pulmonary hemosiderosis was confirmed by bronchoalveolar lavage showing numerous hemosiderin-laden macrophages, with a Golde score of 285 confirming the diagnosis of pulmonary hemosiderosis. Concerning hemiplegia, computed tomography showed multiple cerebral hypodensities suggestive of cerebral stroke. The etiology of these lesions was related to protein C deficiency.
Idiopathic pulmonary hemosiderosis remains a severe disease, which is rarely associated with Down syndrome. The management of this disease in Down syndrome patients is difficult, especially when associated with an ischemic stroke secondary to protein C deficiency.
与普通人群相比，唐氏综合征患者患自身免疫性疾病（如甲状腺炎、糖尿病和乳糜泻）的风险更高。尽管一些疾病与唐氏综合征密切相关，但其他疾病（如特发性肺含铁血黄素沉着症和因蛋白 C 缺乏引起的缺血性卒中）仍然较为罕见。
我们报告了一例 2.5 岁的突尼斯唐氏综合征女孩，患有甲状腺功能减退症，因呼吸困难、贫血和偏瘫入院。胸部 X 线显示弥漫性肺泡浸润。实验室检查显示严重贫血，血红蛋白为 4.2 g/dl，无溶血。支气管肺泡灌洗显示大量含铁血黄素的巨噬细胞，戈尔德评分 285，确诊为特发性肺含铁血黄素沉着症。关于偏瘫，计算机断层扫描显示多个脑低密度灶，提示脑卒。这些病变的病因与蛋白 C 缺乏有关。
特发性肺含铁血黄素沉着症仍然是一种严重的疾病，很少与唐氏综合征有关。唐氏综合征患者的这种疾病的治疗很困难，尤其是当与因蛋白 C 缺乏引起的缺血性卒中相关时。
