Chong Pin Fee, Haraguchi Kohei, Torio Michiko, Kirino Makiko, Ogata Reina, Matsukura Masaru, Sakai Yasunari, Ishizaki Yoshito, Yamamoto Toshiyuki, Kira Ryutaro
Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
Brain Dev. 2015 Jan;37(1):171-4. doi: 10.1016/j.braindev.2014.02.007. Epub 2014 Mar 17.
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.
脑桥被盖部发育异常（PTCD）是一种新描述的脑干畸形，具有独特的神经影像学表现，其特征为腹侧脑桥扁平、小脑蚓部发育不全以及脑桥被盖呈穹窿状，形成一个向第四脑室突出的“帽状”或“喙状”隆起。我们描述了一名3个月大的男婴，他具有典型的神经放射学表现以及PTCD的临床特征。值得注意的是，他表现出多种异常，包括左眼和面部发育不全、双侧感音神经性听力损失以及肋骨和脊柱异常。因此，眼耳脊椎综合征（OAVS）被认为是该患者的一种伴随表型。该患者中观察到的独特合并症表明，PTCD和OAVS在发病机制上可能部分共享一种共同机制。
