title: Costello syndrome showing moyamoya-like vasculopathy.
abstract: This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Mitsuhashi
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002533:Cerebral Angiography; D006801:Humans; D007223:Infant; D008297:Male; D009072:Moyamoya Disease / Q000473:pathology*; D012868:Skin Abnormalities / Q000473:pathology; D014652:Vascular Diseases / Q000473:pathology*