Abstract Details

Title Moyamoya syndrome in a child with Legius syndrome: introducing a cerebral vasculopathy to the SPRED1 phenotype?

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) Cerebrovascular Disease and Interventional Neurology Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 261

Objective We present a child with Legius syndrome and moyamoya syndrome who may expand the Legius phenotype.

Background Legius syndrome is a disorder of the RAS and mitogen-activated protein kinase (MAPK) pathways that is considered a milder phenotype than the RASopathy neurofibromatosis type 1 (NF1). Approximately 200 cases of Legius syndrome have been reported so the extent of the clinical phenotype may continue to evolve.

Design/Methods

We reviewed genetic testing, imaging studies and clinical course of a child who presented with moyamoya vasculopathy and was subsequently diagnosed with Legius syndrome.

Results

A previously healthy 4 year old girl presented with left-sided weakness and seizures. MRI demonstrated acute right frontal infarction and MRA demonstrated narrowing and irregularity of bilateral M1 segments of middle cerebral arteries. Two months later the child presented with persistent headaches and follow-up imaging demonstrated new areas of ischemia and progressive proximal stenosis consistent with moyamoya vasculopathy. She underwent bilateral anastomoses of the superficial temporal arteries to the cerebral cortices. Her physical exam was notable for multiple café-au-lait macules, fair hair and borderline macrocephaly. She underwent genetic workup and was found to have a pathogenic variant of the SPRED1 gene diagnostic of Legius syndrome.

Conclusions Vascular complications such as moyamoya syndrome have been reported in NF1 and other RASopathies, however, this association has not been previously reported in Legius syndrome. This child’s case may represent an expansion of the clinical phenotype of Legius syndrome and warrants further confirmation. We emphasize the importance of obtaining neuroimaging studies in patients with Legius syndrome who present with neurologic deficits.

Authors/Disclosures
Lisa M. Pabst, MD (Nationwide Chidlren'S Hospital) PRESENTER	Dr. Pabst has nothing to disclose.
	No disclosure on file
	No disclosure on file
Warren D. Lo, MD, F�鶹��ýӳ�� (Nationwide Childrens Hospital)	The institution of Dr. Lo has received research support from NIH. Dr. Lo has received publishing royalties from a publication relating to health care.
	No disclosure on file

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