TY - JOUR T1 - Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 1060 LP - 1067 DO - 10.3174/ajnr.A7551 VL - 43 IS - 7 AU - T. Abruzzo AU - R. van den Berg AU - S. Vadivelu AU - S.W. Hetts AU - M. Dishop AU - P. Cornejo AU - V. Narayanan AU - K.E. Ramsey AU - C. Coopwood AU - E.G. Medici-van den Herik AU - S.D. Roosendaal AU - M. Lawton AU - S. Bernes Y1 - 2022/07/01 UR - http://www.ajnr.org/content/43/7/1060.abstract N2 - SUMMARY: Pediatric patients with myelopathy expressing intradural spinal vascular ectasia without arteriovenous shunting were studied at four tertiary referral neuropediatric centers. Patients were identified by retrospective review of institutional records and excluded if spinal vascular pathology could be classified into a previously described category of spinal vascular malformation. Four patients meeting the study criteria were enrolled in the study. Clinical, magnetic resonance imaging, catheter-directed angiography, laboratory, histological and genetic data were analyzed to characterize the disease process and elucidate underlying pathomechanisms. Our study revealed a highly lethal, progressive multi-segmental myelopathy associated with a unique form of non-inflammatory spinal angiopathy featuring diffuse enlargement and tortuosity of spinal cord arteries, spinal cord hyperemia, and spinal cord edema (Arterioectatic Spinal Angiopathy of Childhood). The condition was shown to mimic venous congestive myelopathy associated with pediatric spinal cord arteriovenous shunts on MRI but to have distinct pathognomonic findings on catheter-directed angiography. Clinicopathological, genetic, and neuroimaging features, which are described in detail, closely overlap with those of mitochondrial disease.AESAarterioectatic spinal angiopathyAVarteriovenousCPAcerebral proliferative angiopathyRMAradiculomedullary arteryWESwhole exome sequencing ER -