title: Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome.
abstract: This reports describes a 12-year-old Japanese female with Noonan syndrome who had antiphospholipid syndrome and moyamoya-like vascular changes. She presented choreic movements in her face and extremities. She manifested phenotypic features of Noonan syndrome with short stature, mental retardation, and a webbed neck. Magnetic resonance angiography revealed occlusion of bilateral internal carotid arteries and moyamoya-like vascular changes around the basal ganglion region. Pimozide completely resolved the patient's choreic movements. Tests for anticardiolipin antibody and lupus anticoagulant were positive. The patient has manifested no symptoms for 2 years with pimozide, aspirin, and growth hormone treatment, without further aggravation of moyamoya-like vascular changes. This article is the first report of Noonan syndrome with antiphospholipid syndrome and moyamoya-like vascular lesions.
authors.affiliation: Department of Pediatics and Child Health, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Yushiro
authors.initials: Y
authors.lastname: Yamashita
authors.forename: Akira
authors.initials: A
authors.lastname: Kusaga
authors.forename: Yasutoshi
authors.initials: Y
authors.lastname: Koga
authors.forename: Shin-ichiro
authors.initials: S
authors.lastname: Nagamitsu
authors.forename: Toyojiro
authors.initials: T
authors.lastname: Matsuishi
mesh_terms: D016736:Antiphospholipid Syndrome / Q000150:complications* / Q000473:pathology*; D002339:Carotid Arteries / Q000473:pathology; D002533:Cerebral Angiography; D002648:Child; D005260:Female; D006801:Humans; D009072:Moyamoya Disease / Q000473:pathology*; D009634:Noonan Syndrome / Q000150:complications* / Q000473:pathology*