title: A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.
abstract: 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.
authors.affiliation: Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan. Electronic address: chong.p.f@fcho.jp.
authors.forename: Pin Fee
authors.initials: PF
authors.lastname: Chong
authors.affiliation: Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
authors.forename: Kohei
authors.initials: K
authors.lastname: Haraguchi
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Torio
authors.affiliation: Department of Pediatrics, Kyushu Medical Center, Fukuoka, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Kirino
authors.affiliation: Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
authors.forename: Reina
authors.initials: R
authors.lastname: Ogata
authors.affiliation: Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
authors.forename: Masaru
authors.initials: M
authors.lastname: Matsukura
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Yasunari
authors.initials: Y
authors.lastname: Sakai
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Ishizaki
authors.affiliation: Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
authors.forename: Ryutaro
authors.initials: R
authors.lastname: Kira
mesh_terms: D001933:Brain Stem / Q000002:abnormalities*; D015897:Comorbidity; D006053:Goldenhar Syndrome / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D008297:Male
keywords: OAVS; Oculoauriculovertebral spectrum; PTCD; Pontine malformation; Pontine tegmental cap dysplasia