title: Evolution of a symptomatic diffuse developmental venous anomaly with progressive cerebral atrophy in an atypical case of Sturge-Weber syndrome.
abstract: A 2-year-old boy had glaucoma, bilateral facial haemangioma and widespread blue nevi on the trunk and extremities since birth. Dilated medullary veins were detected in the left cerebral periventricular white matter on magnetic resonance imaging (MRI). Macrocephaly and delayed psychomotor development were observed during late infancy, and susceptibility-weighted angiography revealed an extensive developmental venous anomaly with multiple caput medusae throughout bilateral hemispheres, accompanied by periventricular hyperintense alterations on MRI and progressive diffuse atrophy of the cerebral mantle with left-sided predominance. Hypoperfusion in the left cerebral and cerebellar hemisphere was also uncovered. No meningeal haemangioma was observed. This patient may represent a novel subgroup of phakomatosis cases that can be regarded as a variant of Sturge-Weber syndrome.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan. Electronic address: oonok@med.tottori-u.ac.jp.
authors.forename: Koyo
authors.initials: K
authors.lastname: Ohno
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan; Department of Paediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.
authors.forename: Masami
authors.initials: M
authors.lastname: Togawa
authors.affiliation: Division of Radiology, Department of Pathophysiological and Therapeutic Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Shinohara
authors.affiliation: Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Takamichi
authors.initials: T
authors.lastname: Ito
authors.affiliation: Department of Neurosurgery, School of Medicine, Juntendo University, Tokyo, Japan.
authors.forename: Hidenori
authors.initials: H
authors.lastname: Sugano
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Itamura
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Nishimura
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Tamasaki
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
mesh_terms: D001284:Atrophy / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology*; D002550:Cerebral Veins / Q000473:pathology; D002675:Child, Preschool; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013341:Sturge-Weber Syndrome / Q000473:pathology*
keywords: Developmental venous anomaly; Phakomatosis; Sturge–Weber syndrome; Susceptibility-weighted imaging