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Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

Ralph Rahme1, Louis Crevier, Josée Dubois

  • 1Division of Neurosurgery, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|April 16, 2010
PubMed
Abstract

Insights

Seckel syndrome (SS) and other microcephalic primordial dwarfisms (MPDs) are linked to cerebrovascular anomalies. Patients with MPD presenting with stroke symptoms require prompt cerebral vessel imaging.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Seckel syndrome (SS) and microcephalic primordial dwarfisms (MPDs) are rare autosomal recessive disorders.
  • These conditions involve severe growth retardation, microcephaly, and distinctive facial features.
  • MPDs are increasingly associated with cerebrovascular abnormalities like aneurysms and moyamoya disease.

Observation:

  • An 18-year-old female with SS and intellectual disability presented with subarachnoid hemorrhage.
  • She had a history of multifocal ischemic strokes at age 3.
  • Cerebral angiography revealed bilateral internal carotid artery narrowing, ICA obliteration, and multiple aneurysms on posterior cerebral arteries.

Findings:

  • The patient's imaging demonstrated significant cerebrovascular anomalies, including stenosis and aneurysms.
  • No moyamoya collaterals were observed.
  • Given the high risks, invasive treatment was declined, and palliative care was provided.

Implications:

  • Patients with MPDs exhibit a predisposition to developing cerebrovascular anomalies.
  • Cerebral vessel imaging is crucial for MPD patients experiencing neurological events like ischemia or stroke.
  • Early detection and management strategies for cerebrovascular complications in MPD are warranted.

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