A New Perspective On Arterioectatic Spinal Angiopathy with a Reversible Pattern: Cause or Consequence?

Autor: Islak C; Department of Radiology, Acıbadem Maslak Hospital, Istanbul, Turkey. civanislak@gmail.com.; Department of Radiology, Memorial Şişli Hospital, Istanbul, Turkey. civanislak@gmail.com., Bağcılar Ö; Department of Neuroradiology, Faculty of Medicine, Medical Center-University of Freiburg, Breisacherstr. 64, 79106, Freiburg, Germany., Selçuk HH; Department of Radiology, Acıbadem Ataşehir Hospital, Istanbul, Turkey., Saltık S; Department of Pediatric Neurology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Korkmazer B; Department of Radiology, Division of Neuroradiology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zubarioğlu T; Department of Pediatrics, Divisions of Nutrition and Metabolism, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Arslan S; Department of Radiology, Division of Neuroradiology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Üstündag A; Department of Radiology, Division of Neuroradiology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Kızılkılıç O; Department of Radiology, Division of Neuroradiology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Jazyk: angličtina
Zdroj: Clinical neuroradiology [Clin Neuroradiol] 2024 Sep 02. Date of Electronic Publication: 2024 Sep 02.
DOI: 10.1007/s00062-024-01451-x
Abstrakt: Objective: In 2022, arterioectatic spinal angiopathy (AESA) of childhood was reported as a fatal, progressive, multi-segment myelopathy associated with a unique form of non-inflammatory spinal angiopathy involving diffuse dilatation of the anterior spinal artery and cord congestion in children. In this study, we present four more cases of AESA, using early and long-term conventional imaging and flat detector computed tomography angiography (FDCTA) imaging to assess the probability of disease regression and prevent unnecessary interventions.
Methods: We retrospectively reviewed the clinical and radiological findings of four patients with AESA seen in two neuroradiology departments between 2014 and 2023.
Results: The study included three boys and one girl. Two of the boys were siblings. Although the clinical and radiological presentation in the early stages of the clinical course overlapped the definition of AESA, the clinical course was more benign in three of the cases. The clinical courses of the two siblings with monosegmental cord involvement and largely reversible radiological findings suggest that some of the features in the initial definition of the disease cannot be standardized for all patients. The siblings had a mutation of the NDUFS gene, which is involved in mitochondrial function and clinical-radiological reversibility in these patients.
Conclusion: Many mitochondrial diseases, such as this NDUFS mutation, present with myelopathy, and mitochondrial diseases can sometimes show spontaneous recovery. It is crucial to identify other genetic mutations or environmental factors that trigger the accompanying vascular ectatic findings in AESA in larger multicenter studies to prevent its potential lethal course and possible unnecessary surgical-endovascular interventions.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)
Databáze: MEDLINE
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