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

Area of Science:

• Pediatric neurology
• Vascular neurology
• Medical imaging

Background:

• Arterioectatic spinal angiopathy (AESA) of childhood is a rare, progressive myelopathy.
• It involves diffuse dilatation of the anterior spinal artery and cord congestion.
• Previously considered fatal, this study explores potential for disease regression.

Purpose of the Study:

• To present four additional cases of AESA.
• To evaluate the potential for disease regression using advanced imaging.
• To prevent unnecessary interventions by reassessing disease characteristics.

Main Methods:

• Retrospective review of clinical and radiological findings.
• Inclusion of four pediatric patients diagnosed with AESA.
• Utilized conventional imaging and flat detector computed tomography angiography (FDCTA).

Main Results:

• Three of four cases exhibited a more benign clinical course than expected.
• Two siblings with monosegmental involvement showed largely reversible radiological findings.
• These siblings possessed an NDUFS gene mutation linked to mitochondrial function and reversibility.

Conclusions:

• Mitochondrial diseases, like the NDUFS mutation, can present as myelopathy with potential for spontaneous recovery.
• Further multicenter studies are needed to identify genetic and environmental triggers for AESA.
• Accurate diagnosis is crucial to avoid potentially lethal outcomes and unnecessary interventions.