Moyamoya Syndrome in an Infant with Aicardi-Goutieres and Williams Syndromes: A Case Report

被引:7
作者
Brar, Jagraj S. [1 ,2 ,3 ]
Verma, Rahul [2 ,3 ]
Al-Omari, Mohammed [2 ,3 ,4 ]
Siu, Victoria M. [2 ,3 ,5 ]
Andrade, Andrea V. [2 ,3 ,4 ]
Jurkiewicz, Michael T. [3 ,6 ]
Lalgudi Ganesan, Saptharishi [1 ,2 ,3 ]
机构
[1] London Hlth Sci Ctr, Childrens Hosp, Div Pediat Crit Care Med, Dept Pediat, London, ON, Canada
[2] London Hlth Sci Ctr, Childrens Hosp, Dept Pediat, London, ON, Canada
[3] Western Univ, Schulich Sch Med & Dent, London, ON, Canada
[4] London Hlth Sci Ctr, Childrens Hosp, Dept Pediat, Div Pediat Neurol, London, ON, Canada
[5] London Hlth Sci Ctr, Childrens Hosp, Dept Pediat, Div Med Genet, London, ON, Canada
[6] London Hlth Sci Ctr, Childrens Hosp, Dept Med Imaging, London, ON, Canada
关键词
williams syndrome; moyamoya syndrome; stroke; SAM domain and HD domain-containing protein-1; aicardi-goutieres syndrome; CEREBRAL VASCULOPATHY; INFARCTION; DISEASE;
D O I
10.1055/s-0041-1739131
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Stroke in infancy is a rare phenomenon but can lead to significant long-term disability. We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with "ivy sign," suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrovascular condition that is associated with progressive stenosis of the intracranial vessels and can cause ischemic stroke in young children. Targeted mutation analysis revealed a homozygous c.1411-2A>G splice site variant in the SAMHD1 gene, consistent with a diagnosis of Aicardi-Goutieres syndrome type 5 (AGS5), an autosomal recessive condition with multisystem involvement. In our unique case of infantile stroke with Moyamoya syndrome and dual diagnosis of Williams syndrome and AGS5, both diagnoses likely contributed to the cerebrovascular pathology. This case report highlights the importance of suspecting and testing for multiple genetic abnormalities in children presenting with Moyamoya-related stroke.
引用
收藏
页码:204 / 207
页数:4
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