Evolution of a symptomatic diffuse developmental venous anomaly with progressive cerebral atrophy in an atypical case of Sturge-Weber syndrome

Koyo Ohno, Yoshiaki Saito, Masami Togawa, Yuki Shinohara, Takamichi Ito, Hidenori Sugano, Shinji Itamura, Yoko Nishimura, Akiko Tamasaki, Yoshihiro Maegaki

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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.

元の言語英語
ページ(範囲)817-821
ページ数5
ジャーナルBrain and Development
37
発行部数8
DOI
出版物ステータス出版済み - 9 1 2015

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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