An Adolescent with Recurrent Intracranial Hemorrhage, and Skin Lesion

Yuehui Hong; Min Shen; Tao Wang; Mingsheng MA; Sen Zhao; Feng Feng; Dachun Zhao; Wen Zhang; Xuejun Zeng; Lei Xuan; Ming Yao; Yicheng Zhu

Return

An Adolescent with Recurrent Intracranial Hemorrhage, and Skin Lesion

VernacularTitle:反复蛛网膜下腔出血及脑室出血伴皮疹的青少年男性
Author: Yuehui HONG ^{1
,

2} ; Min SHEN ^{2
,

3} ; Tao WANG ^{2
,

4} ; Mingsheng MA ^{2
,

4} ; Sen ZHAO ^{2
,

5} ; Feng FENG ^{2
,

6} ; Dachun ZHAO ^{2
,

7} ; Wen ZHANG ^{2
,

3} ; Xuejun ZENG ^{2
,

8} ; Lei XUAN ^{2
,

9} ; Ming YAO ^{1
,

2} ; Yicheng ZHU ^{1
,

2}
Author Information

1. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.
3. Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
4. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
5. Department of Orthopedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
6. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
7. Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
8. Department of General Practice, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
9. Department of Traditional Chinese Medical, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
Publication Type:Journal Article
Keywords: subarachnoid hemorrhage; cerebral aneurysm; chilblain lesions; autoinflammatory disease
From: JOURNAL OF RARE DISEASES 2022;1(2):151-157
CountryChina
Language:Chinese
Abstract: We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.