Hawton Katherine, Hilliard Tom, Langton-Hewer Simon C, Burren Christine, Crowne Elizabeth C, Hamilton-Shield Julian P, Giri Dinesh
Paediatric Endocrinology and Diabetes Department, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
NIHR Biomedical Research Centre (Nutrition Theme), University of Bristol, Bristol, UK.
J Pediatr Endocrinol Metab. 2023 Jan 25;36(4):418-423. doi: 10.1515/jpem-2022-0376. Print 2023 Apr 25.
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality. Diagnosis is often challenging. We describe three cases of ROHHAD with heterogeneous presentations but some consistent clinical features, including hyperprolactinaemia at diagnosis. We highlight when the diagnosis of ROHHAD should be considered at an early stage.
All three patients presented between 4 and 6 years old with rapid-onset obesity. They all have central hypoventilation requiring nocturnal BiPAP, varying degrees of hypothalamic dysfunction with hyperprolactinaemia being a consistent feature, and autonomic dysfunction. One patient has a neuro-endocrine tumour (NET) and two have glucose dysregulation.
High prolactin was a consistent early feature. Central hypoventilation and NET may present later and therefore regular sleep studies and screening for NETs are required. A high suspicion of ROHHAD is warranted in patients with rapid, early-onset obesity and hyperprolactinaemia without structural pituitary abnormality.
快速进展性肥胖伴通气不足、下丘脑功能障碍、自主神经失调（ROHHAD）是一种罕见综合征，发病率和死亡率高。诊断往往具有挑战性。我们描述了3例ROHHAD病例，其临床表现各异，但有一些一致的临床特征，包括诊断时高催乳素血症。我们强调了何时应在早期考虑ROHHAD的诊断。
所有3例患者均在4至6岁时出现快速进展性肥胖。他们均有中枢性通气不足，需要夜间使用双水平气道正压通气（BiPAP），存在不同程度的下丘脑功能障碍，高催乳素血症是一个一致特征，并且有自主神经功能障碍。1例患者有神经内分泌肿瘤（NET），2例有血糖调节异常。
高催乳素是一个一致的早期特征。中枢性通气不足和NET可能在后期出现，因此需要定期进行睡眠研究和NET筛查。对于快速出现的早发性肥胖和高催乳素血症且无垂体结构异常的患者，有必要高度怀疑ROHHAD。
