Case report of ROHHAD syndrome with elevated D-dimer levels and literature review
10.3760/cma.j.cn101070-20230717-00589
- VernacularTitle:伴有D二聚体升高的ROHHAD综合征1例并文献复习
- Author:
Mengjie YANG
1
;
Qunjia HUANG
;
Xiaoou SHAN
Author Information
1. 温州医科大学附属第二医院、育英儿童医院儿童内分泌遗传代谢科，温州 325000
- Keywords:
ROHHAD syndrome;
D-dimer;
Hypercoagulable state;
Neural crest tumor
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(7):544-546
- CountryChina
- Language:Chinese
-
Abstract:
This article reports a case of ROHHAD syndrome with elevated D-dimer levels and reviews the literature to summarize the clinical characteristics of this disease.A 9 years and 9 months old boy was treated at the Second Affiliated Hospital and Yuying Children′s Hospital of Wenzhou Medical University in July 2020, he was evaluated for rapid-onset obesity but poor height growth since he was 3 years old.He also presented with unstable temperature, frequent diarrhea and hypogonadism.The laboratory findings revealed hypernatremia, hyperprolactinemia and elevated partial pressure of carbon dioxide.The pathological finding suggested the left adrenal ganglioneuroma.Polysomnography data showed central hypoventilation with obstructive sleep apnea.The boy was finally diagnosed with ROHHAD syndrome.It was the first report of the ROHHADNET case in China.The boy had a high level of D-dimer before surgery, but it fell to normal following the surgical excision of the adrenal tumor.ROHHAD syndrome patients may be at risk of thrombosis.Changes in D-dimer level may be used as a marker to help predict the tumor progression in ROHHADNET.
