Wan Lin, Ge Wen-Rong, Shi Xiu-Yu, Wang Jing, Hu Lin-Yan, Zou Li-Ping, Yang Guang
The First Medical Center of Chinese PLA General Hospital, Beijing, China.
Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Front Neurol. 2019 Dec 6;10:1302. doi: 10.3389/fneur.2019.01302. eCollection 2019.
Cutaneous vertebral medullary angiomatosis, also known as Cobb syndrome, is a rare segmental neurocutaneous syndrome. This syndrome is considered to be a non-hereditary congenital disease that is usually associated with arteriovenous malformations in the skin and spine. The clinical manifestations are complex because the lesions can involve the spine, spinal cord, skin, and even the viscera. Here, we present the case of a 10-year-old girl who was admitted to hospital due to headache with two episodes of convulsions. Previous examination at another hospital found no evidence of any abnormalities on either cranial or intracranial vascular magnetic resonance imaging (MRI). However, the patient had a history of subcutaneous hemangioma. Following exhaustive tests at our hospital, she was diagnosed with Cobb syndrome. She received surgery, treatment for decreasing intracranial pressure, and hormonal and nutritional support. She subsequently remained stable, with no recurrence of convulsions over a 9-year follow-up period. Here, we expand upon the clinical manifestations of Cobb syndrome and propose mechanisms for the underlying pathogenesis. We hope that our experience can help avoid missed diagnoses and misdiagnosis and provide more clinical evidence for early diagnosis.
皮肤椎体髓质血管瘤病,也称为科布综合征,是一种罕见的节段性神经皮肤综合征。该综合征被认为是一种非遗传性先天性疾病,通常与皮肤和脊柱的动静脉畸形有关。临床表现复杂,因为病变可累及脊柱、脊髓、皮肤,甚至内脏。在此,我们报告一例10岁女孩因头痛伴两次惊厥入院的病例。此前在另一家医院进行的检查发现,头颅或颅内血管磁共振成像(MRI)均未显示任何异常迹象。然而,该患者有皮下血管瘤病史。在我院进行全面检查后,她被诊断为科布综合征。她接受了手术、降低颅内压治疗以及激素和营养支持。随后病情保持稳定,在9年的随访期内惊厥未复发。在此,我们详述了科布综合征的临床表现,并提出了潜在发病机制。我们希望我们的经验有助于避免漏诊和误诊,并为早期诊断提供更多临床依据。