A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Pin Fee Chong, Kohei Haraguchi, Michiko Torio, Makiko Kirino, Reina Ogata, Masaru Matsukura, Yasunari Sakai, Yoshito Ishizaki, Toshiyuki Yamamoto, Ryutaro Kira

研究成果: ジャーナルへの寄稿学術誌査読

11 被引用数 (Scopus)

抄録

Pontine tegmental cap dysplasia (PTCD) is a newly described brainstem malformation with distinct neuroimaging findings, characterized by a flattened ventral pons, cerebellar vermal hypoplasia and vaulted pontine tegmentum that forms a "caplike" or "beaklike" bulge projecting into the fourth ventricle. We describe a 3-month-old infant male who presented with typical neuroradiological findings as well as clinical features of PTCD. Notably, he manifested multiple anomalies with left ocular and facial hypoplasia, bilateral sensorineural hearing loss and rib and vertebral anomalies. Oculoauriculovertebral spectrum (OAVS) was thus considered to be an accompanying phenotype of this patient. The unique comorbidity seen in this patient suggests that PTCD and OAVS may partly share a common mechanism in their pathogenesis.

本文言語英語
ページ(範囲)171-174
ページ数4
ジャーナルBrain and Development
37
1
DOI
出版ステータス出版済み - 1月 1 2015

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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