Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Spasticity

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

Total: 1

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PMID (PMCID)
22744260	FEMALE	Adult
	Rare giant traumatic cervical arteriovenous fistula in neurofibromatosis type 1 patient.
	Hughes DG, Alleyne CH Jr. BMJ Case Rep. 2012;2012:.
	A 29-year-old woman with neurofibromatosis type 1 and a motor vehicle collision 2 years earlier presented with gait difficulty, lower extremity spasticity and neck and arm pain.