Multidisciplinary Treatment on a Case of ROSAH Syndrome
10.12376/j.issn.2097-0501.2022.03.010
- VernacularTitle:ROSAH综合征一例的多学科诊疗
- Author:
Linqing ZHONG
1
,
2
;
Mingsheng MA
1
,
2
;
Ruifang SUI
2
,
3
;
Xia HONG
2
,
4
;
Feng FENG
2
,
5
;
Li HUO
2
,
6
;
Menghua DAI
2
,
7
;
Qiang XU
2
,
7
;
Hongmei SONG
1
,
2
Author Information
1. Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.
3. Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
4. Department of Psychology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
5. epartment of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
6. Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
7. Basic Surgery Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
- Publication Type:Journal Article
- Keywords:
splenomegaly;
fundus lesions;
ectodermal dysplasia;
headache;
tumor necrosis factor;
autoinflammatory diseases
- From:
JOURNAL OF RARE DISEASES
2022;1(3):289-295
- CountryChina
- Language:Chinese
-
Abstract:
A 15-year-old female was referred to the hospital with intermittent fever, where multiple systemic abnormalities were found, such as splenomegaly, secondary hypersplenism, retinitis pigmentosa, and ectodermal dysplasia. Medical history revealed that she had suffered recurrent respiratory infections, blurred vision at night, and dysplasia of teeth and nail beds since childhood. Then she was suspected to be experiencing ROSAH syndrome, a rare disease newly recognized in recent years, which was finally confirmed by gene sequencing results. During a course of treatment with tumor necrosis factor inhibitors, recurrent fever with elevated inflammatory markers reappeared, and the child developed headaches. To guide the comprehensive treatment and improve the patient's quality of life, the multidisciplinary team in Peking Union Medical College Hospital discussed together and directed the following treatment.
