Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology

T Abruzzo, From the Barrow Neurological Institute at Phoenix Children's Hospital and Department of Radiology (T.A., P.C., S.B.) tabruzzo@phoenixchildrens.com.Follow
R van den Berg, Department of Radiology and Nuclear Medicine (R.v.d.B., S.D.R.), Amsterdam University Medical Centers, Amsterdam, the Netherlands.
S Vadivelu, Department of Neurosurgery (S.V.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
S W. Hetts, Department of Radiology (S.W.H.), University of California, San Francisco, San Francisco, California.
M Dishop, Department of Pathology and Laboratory Medicine (M.D.).
P Cornejo, From the Barrow Neurological Institute at Phoenix Children's Hospital and Department of Radiology (T.A., P.C., S.B.).
V Narayanan, Translational Genomics Research Institute (V.N., K.E.R.), Phoenix, Arizona.
K E. Ramsey, Translational Genomics Research Institute (V.N., K.E.R.), Phoenix, Arizona.
C Coopwood, College of Medicine (C.C.), University of Arizona, Tucson, Arizona tabruzzo@phoenixchildrens.com.
E G. Medici-van den Herik, Department of Neurology (E.G.M.-v.d.H.), Erasmus Medical Center, Rotterdam, the Netherlands.
S D. Roosendaal, Department of Radiology and Nuclear Medicine (R.v.d.B., S.D.R.), Amsterdam University Medical Centers, Amsterdam, the Netherlands.
M Lawton, Department of Neurosurgery (M.L.), Phoenix Children's Hospital, Phoenix, Arizona.Follow
S Bernes, From the Barrow Neurological Institute at Phoenix Children's Hospital and Department of Radiology (T.A., P.C., S.B.).

Document Type

Article

Abstract

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.

Publication Date

6-30-2022

Publication Title

AJNR. American journal of neuroradiology

E-ISSN

1936-959X

PubMed ID

35772802

Digital Object Identifier (DOI)

10.3174/ajnr.A7551

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