Pimentel Campillo Jorge, Corona Castillo Daneybi, Nunez Marco, Finke Abbott Ana, Pichardo Jesús
Internal Medicine, Centros de Diagnóstico y Medicina Avanzada y de Conferencias Médicas y Telemedicina (CEDIMAT), Santo Domingo, DOM.
Endocrinology, Diabetes, and Metabolism, Centros de Diagnóstico y Medicina Avanzada y de Conferencias Médicas y Telemedicina (CEDIMAT), Santo Domingo, DOM.
Cureus. 2023 Jun 28;15(6):e41119. doi: 10.7759/cureus.41119. eCollection 2023 Jun.
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (, , , , and ) involved in the cohesin complex, which plays a critical role in chromosome segregation and gene expression regulation. Clinical findings typically include dysmorphic facial features (arched eyebrows, synophrys, long eyelashes, ptosis, long philtrum, thin upper lip, and posteriorly rotated ears), growth and mental retardation, upper limb defects (clinodactyly and limb deficiencies), gastrointestinal complications (gastroesophageal reflux, pyloric stenosis, diaphragmatic hernia, malrotation, and volvulus), and heart defects (ventricular and atrial septal defects). In addition, chronic respiratory tract infections including sinusitis and pneumonia have been frequently described in this population. The early recognition and diagnosis of CdLS through genetic testing are crucial to ensure appropriate medical management and early intervention therapies to improve the outcomes of affected individuals. The thyroid gland is not affected by this congenital disease, but complications can arrive in this organ by other disease-related organ malfunctions. Pneumonia-induced thyroiditis is a potentially life-threatening condition that can occur in patients with underlying thyroid disease who also develop pneumonia. The symptoms are due to the hypermetabolic state induced by excess thyroid hormones and include weight loss, heat intolerance, and palpitations. There are many different causes of thyrotoxicosis. It is important to determine the cause since treatment is based on the underlying etiology. The diagnosis of pneumonia-induced thyrotoxicosis can be challenging as symptoms may mimic other conditions and laboratory testing may not always provide a clear answer. The diagnosis is confirmed with low thyroid-stimulating hormone (TSH) and elevated free thyroxine (T4) and triiodothyronine (T3), erythrocyte sedimentation rate (ESR), and C-reactive protein. The management of the condition involves prompt recognition, supportive care, and the use of medications to lower thyroid hormone levels, such as beta-blockers, antithyroid drugs, steroids, and iodine. In severe cases, plasmapheresis or thyroidectomy may be necessary.
科妮莉亚·德朗热综合征（CdLS）是一种罕见的遗传性疾病，会影响多个器官系统，其特征为独特的面部特征、生长发育迟缓以及发育障碍。该综合征由参与黏连蛋白复合体的基因（ 、 、 、 和 ）发生突变引起，黏连蛋白复合体在染色体分离和基因表达调控中起关键作用。临床症状通常包括面部畸形特征（拱形眉毛、连眉、长睫毛、上睑下垂、人中长、上唇薄以及耳朵后旋）、生长发育和智力迟缓、上肢缺陷（手指弯曲和肢体缺损）、胃肠道并发症（胃食管反流、幽门狭窄、膈疝、肠旋转不良和肠扭转）以及心脏缺陷（室间隔和房间隔缺损）。此外，该人群中经常出现包括鼻窦炎和肺炎在内的慢性呼吸道感染。通过基因检测对CdLS进行早期识别和诊断对于确保适当的医疗管理和早期干预治疗以改善受影响个体的预后至关重要。甲状腺不受这种先天性疾病影响，但其他与疾病相关的器官功能障碍可能会累及该器官。肺炎诱发的甲状腺炎是一种潜在的危及生命的病症，可发生于患有潜在甲状腺疾病且同时患上肺炎的患者。症状是由过量甲状腺激素引起的高代谢状态所致，包括体重减轻、不耐热和心悸。甲状腺毒症有许多不同的病因。确定病因很重要，因为治疗是基于潜在病因的。肺炎诱发的甲状腺毒症的诊断可能具有挑战性，因为症状可能与其他病症相似，且实验室检查可能并不总是能提供明确答案。通过低促甲状腺激素（TSH）、升高的游离甲状腺素（T4）和三碘甲状腺原氨酸（T3）、红细胞沉降率（ESR）和C反应蛋白来确诊。该病症的管理包括及时识别、支持性护理以及使用药物降低甲状腺激素水平，如β受体阻滞剂、抗甲状腺药物、类固醇和碘。在严重情况下，可能需要进行血浆置换或甲状腺切除术。
