Meningioma

A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.

Juvenile cataract

A type of cataract that is not apparent at birth but that arises in childhood or adolescence.

Total: 2

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PMID (PMCID)
22436304 (3359208)	FEMALE	Infant, Newborn
	Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.
	Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A. BMC Med Genet. 2012;13:19.
	NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts.
8401504	MIXED_SAMPLE
	Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.
	Sanson M, Marineau C, Desmaze C, Lutchman M, Ruttledge M, Baron C, Narod S, Delattre O, Lenoir G, Thomas G, et al.. Hum Mol Genet. 1993;2(8):1215-20.
	Neurofibromatosis type 2 (NF2) is an autosomal dominant disease which predisposes to the development of schwannomas, meningiomas, ependymomas, and juvenile cataracts.