Alhajri Sana, Lee Haesoon, Siddiqui Abdul Hasan, Perez-Colon Sheila
Pediatrics, State University of New York Downstate Medical Center, Brooklyn, USA.
Pediatric Pulmonology, State University of New York Downstate Medical Center, Brooklyn, USA.
Cureus. 2020 Jun 7;12(6):e8496. doi: 10.7759/cureus.8496.
Isolated central hypothyroidism (ICH) and narcolepsy are conditions rarely seen in the pediatric population which are usually characterized by delayed diagnosis and treatment due to their variable presentation and subclinical onset. We describe an unusual case of an adolescent male diagnosed with narcolepsy and central hypothyroidism. A 15-year-old obese boy presented with the complaint of excessive daytime sleepiness, fatigue, and snoring. Obstructive sleep apnea (OSA) was initially suspected as the underlying cause, but the sleep study was negative for OSA. However, the multiple sleep latency test was consistent with narcolepsy without cataplexy. He was then started on modafinil, but his symptoms persisted. Thyroid function tests were performed that were consistent with ICH. Thyroid replacement therapy was initiated with subsequent improvement in symptoms. A theoretical association exists between narcolepsy and ICH due to the involvement of the hypothalamus and pituitary gland. Nevertheless, clinical association, as seen in our case, is rare. Central hypothyroidism is a known etiology leading to fatigue and sleepiness. Narcolepsy without cataplexy can have overlapping symptoms with hypothyroidism, as seen in our patient. The presence of narcolepsy should prompt screening for hypothyroidism in appropriate clinical settings.
孤立性中枢性甲状腺功能减退症（ICH）和发作性睡病在儿科人群中很少见，由于其表现多样且起病隐匿，通常具有诊断和治疗延迟的特点。我们描述了一例诊断为发作性睡病和中枢性甲状腺功能减退症的青少年男性的罕见病例。一名15岁肥胖男孩主诉白天过度嗜睡、疲劳和打鼾。最初怀疑潜在病因是阻塞性睡眠呼吸暂停（OSA），但睡眠研究显示OSA为阴性。然而，多次睡眠潜伏期试验结果与无猝倒的发作性睡病一致。随后他开始服用莫达非尼，但症状持续存在。进行的甲状腺功能检查结果与ICH一致。开始进行甲状腺替代治疗后症状随后有所改善。由于下丘脑和垂体受累，发作性睡病与ICH之间存在理论上的关联。然而，如我们病例中所见，临床关联很少见。中枢性甲状腺功能减退症是导致疲劳和嗜睡的已知病因。如我们的患者所示，无猝倒的发作性睡病可能与甲状腺功能减退症有重叠症状。在适当的临床环境中，发作性睡病的存在应促使对甲状腺功能减退症进行筛查。
