title: Cardio-facio-cutaneous syndrome and moyamoya syndrome.
abstract: We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome.
authors.affiliation: Department of Pediatrics, Nagoya University School of Medicine, 65 Tsurumai-cho, Showa-ku, Aichi 466-8550, Japan. yoshiko@med.nagoya-u.ac.jp
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Ishiguro
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kubota
authors.forename: Junko
authors.initials: J
authors.lastname: Takenaka
authors.forename: Koichi
authors.initials: K
authors.lastname: Maruyama
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Tamiko
authors.initials: T
authors.lastname: Negoro
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Watanabe
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002533:Cerebral Angiography; D002648:Child; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009072:Moyamoya Disease / Q000150:complications* / Q000473:pathology*; D012868:Skin Abnormalities / Q000150:complications