Huntley Geoffrey D, Ruff Michael W, Hicks Stephen B, Yost Micah D, Fulgham Jimmy R
School of Medicine, Mayo Clinic, Rochester, Minnesota.
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
J Stroke Cerebrovasc Dis. 2017 Apr;26(4):e72-e73. doi: 10.1016/j.jstrokecerebrovasdis.2017.02.013. Epub 2017 Feb 22.
We report a case of a 58-year-old Hispanic man who developed ascending paraparesis over several weeks secondary to recurrent hemorrhages and resulting in spinal cord ischemia from a low thoracic spinal cord cavernous malformation. The patient's deterioration was attributed to recurrent hemorrhage of a thoracic intramedullary cavernous malformation at T11 resulting in vascular congestion and spinal cord ischemia. The patient was found to have a heterozygous mutation on exon 13 of gene KRIT1, which was consistent with autosomal dominant familial cerebral cavernous malformations. Expedited surgical intervention potentially could have prevented this patient's progressive paraplegia.
我们报告了一例58岁的西班牙裔男性病例,该患者在数周内出现进行性双下肢轻瘫,继发于反复出血,因胸段低位脊髓海绵状血管畸形导致脊髓缺血。患者的病情恶化归因于T11节段胸段髓内海绵状血管畸形反复出血,导致血管充血和脊髓缺血。该患者在基因KRIT1的第13外显子上发现杂合突变,这与常染色体显性遗传性家族性脑海绵状血管畸形相符。尽早进行手术干预可能会预防该患者的进行性截瘫。
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