title: Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?
abstract: BACKGROUND
  Seckel syndrome (SS) and other microcephalic primordial dwarfisms (MPDs) are a group of autosomal recessive disorders characterized by prenatal and postnatal growth retardation, microcephaly, and distinct facial dysmorphic features. There are an increasing number of reports in the literature linking MPDs with cerebrovascular anomalies, including intracranial aneurysms and moyamoya.
  
  
  METHODS
  An 18-year-old female patient with SS and mental retardation was referred for spontaneous subarachnoid hemorrhage. At the age of 3 years, she had suffered multifocal ischemic cerebrovascular accidents following an elective urological procedure. Cardiac, hematologic, and serologic workups were negative, and cerebral angiography was recommended but declined by the parents. Brain MRA and cerebral angiography showed bilateral narrowing of extracranial and intracranial internal carotid arteries (ICAs), obliteration of the right supraclinoid ICA without moya-moya collaterals, and multiple bilateral saccular aneurysms on the hypertrophied posterior cerebral arteries. Considering the patient's previous quality of life and the high risks of either endovascular or surgical treatment, all invasive treatments were withheld at the parents' request and only palliative care was offered.
  
  
  CONCLUSIONS
  It appears that patients with MPD are prone to the development of cerebrovascular anomalies. Therefore, imaging of cerebral vessels should be performed when such patients present with cerebral ischemia or stroke.
authors.affiliation: Division of Neurosurgery, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Ralph
authors.initials: R
authors.lastname: Rahme
authors.forename: Louis
authors.initials: L
authors.lastname: Crevier
authors.forename: Josée
authors.initials: J
authors.lastname: Dubois
authors.forename: Claude
authors.initials: C
authors.lastname: Mercier
mesh_terms: D000293:Adolescent; D016893:Carotid Stenosis / Q000150:complications / Q000473:pathology; D002533:Cerebral Angiography; D004392:Dwarfism / Q000150:complications / Q000473:pathology* / Q000523:psychology; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D018810:Magnetic Resonance Angiography; D008831:Microcephaly / Q000150:complications / Q000473:pathology* / Q000523:psychology; D009072:Moyamoya Disease / Q000150:complications / Q000473:pathology* / Q000523:psychology; D010166:Palliative Care; D011788:Quality of Life; D020521:Stroke / Q000150:complications; D013345:Subarachnoid Hemorrhage / Q000209:etiology; D013577:Syndrome
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