Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?
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.
Rahme
Ralph
R
Division of Neurosurgery, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
Crevier
Louis
L
Dubois
Josée
J
Mercier
Claude
C
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
Am J Med Genet. 1982 May;12(1):7-21
7046443
Am J Med Genet A. 2004 Jul 1;128A(1):98-100
15211667
J Neurosurg Pediatr. 2009 Apr;3(4):320-4
19338412
Am J Med Genet A. 2004 Jun 1;127A(2):218-20
15108216
Arch Neurol. 1969 Mar;20(3):288-99
5775283
Am J Med Genet. 1982 May;12(1):37-42
7201239
Am J Med Genet A. 2003 Mar 15;117A(3):299-301
12599197
Indian Pediatr. 2004 Nov;41(11):1158-61
15591669
Pediatr Nephrol. 1999 May;13(4):343-6
10454788
Am J Med Genet A. 2005 Dec 15;139(3):212-5
16278902
Eur J Pediatr. 2003 Dec;162(12):860-2
14564517
N Engl J Med. 2009 Mar 19;360(12):1226-37
19297575
Childs Nerv Syst. 1998 Jan-Feb;14(1-2):82-4
9548348
Am J Med Genet. 1982 May;12(1):23-35
7201238
Am J Med Genet. 1997 May 16;70(2):155-8
9128935
Am J Med Genet A. 2004 Sep 15;130A(1):55-72
15368497