Moyamoya syndrome and neurofibromatosis type 1
نویسندگان
چکیده
Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy is a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels of all sizes. Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1, particularly in the pediatric age range. Herein, we report of a 5-year-old female with NF1 and moyamoya syndrome and we briefly review the existing literature.
منابع مشابه
Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient*
Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with i...
متن کاملMoyamoya Syndrome: A Window of Moyamoya Disease
Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However...
متن کاملMoyamoya syndrome associated with neurofibromatosis type I in a pediatric patient.
CONTEXT Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT An eight-month-old female presented convulsive seizures w...
متن کاملClinical Features, Prothrombotic Risk Factors, and Long-Term Follow-Up of Eight Pediatric Moyamoya Patients
BACKGROUND AND PURPOSE The aim of this study was to elucidate the clinical features, prothrombotic risk factors, and outcome of pediatric Moyamoya patients. METHODS Patients diagnosed with Moyamoya disease at a tertiary center between January 2000 and December 2006 were enrolled in this study. The clinical presentations, underlying diseases, prothrombotic risk factors, family history of throm...
متن کاملPosterior circulation intracranial arterial occlusive disease in neurofibromatosis.
It is well known that neurofibromatosis is one apparent etiology for the type of intracranial arterial occlusive disease known as moyamoya disease [1-4]. All previously reported cases of neurofibromatosis with moyamoya disease have had involvement only of the intracranial carotid circulation (supraclinoid internal carotid artery, middle cerebral artery, anterior cerebral artery) [1 -4]. We repo...
متن کامل