Garcia Monica, Litra Florentina
Pediatrics, University of Florida, Pensacola, USA.
Department of Pediatrics, Ascension Sacred Heart, Pensacola, USA.
Cureus. 2022 Jul 13;14(7):e26822. doi: 10.7759/cureus.26822. eCollection 2022 Jul.
Down syndrome is the most common chromosomal abnormality identified at birth. These individuals will have multiple comorbid illnesses that require complex medical care throughout their lives. In recent years, specific patterns of regression have been detected in these individuals; most notably, developmental regression with language, behavior, and cognitive skills that they had previously acquired, which now affects both the quality of life and autonomy. These development regression patterns are referred to as Down syndrome disintegrative disorder. The case that we are reporting occurred in a 17-year-old female presenting with significant weight loss, altered mental status, and loss of functional skills over a period of one month. Co-occurring hypothyroidism and hyperthyroidism symptoms exacerbation may have triggered this patient's regression. Our case highlights the importance of conducting a thorough investigation for life-threatening and non-life-threatening illnesses that can present with similar symptoms, in order to make the correct diagnosis of Down syndrome disintegrative disorder and find appropriate therapies and future care.
唐氏综合征是出生时最常见的染色体异常疾病。这些个体往往伴有多种合并症，需要在一生中接受复杂的医疗护理。近年来，在这些个体中发现了特定的退化模式；最显著的是，他们之前获得的语言、行为和认知技能出现发育退化，这如今影响了生活质量和自主性。这些发育退化模式被称为唐氏综合征退行性障碍。我们报告的病例是一名17岁女性，在一个月内出现显著体重减轻、精神状态改变和功能技能丧失。同时出现的甲状腺功能减退和甲状腺功能亢进症状加重可能引发了该患者的退化。我们的病例强调了对可能出现类似症状的危及生命和非危及生命疾病进行全面调查的重要性，以便正确诊断唐氏综合征退行性障碍并找到合适的治疗方法和未来护理方案。
