TY - JOUR
T1 - A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum
AU - Chong, Pin Fee
AU - Haraguchi, Kohei
AU - Torio, Michiko
AU - Kirino, Makiko
AU - Ogata, Reina
AU - Matsukura, Masaru
AU - Sakai, Yasunari
AU - Ishizaki, Yoshito
AU - Yamamoto, Toshiyuki
AU - Kira, Ryutaro
N1 - Funding Information:
We thank the patient’s family for their participation. We would also like to thank Dr. Toshiro Hara for his critical review of this report. This work is partly supported by JSPS Kakenhi (Grant Nos. 24650199 to Y.S. and 23591502 to Y.I.), Takeda Science Foundation (Y.S.), Life Science Foundation of Japan (Y.S.) and Grant-in-Aid of Health Labor Sciences Research Grant from the Ministry of Health, Labor and Welfare, Japan (T.Y.).
Publisher Copyright:
© 2014 The Japanese Society of Child Neurology.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - 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.
AB - 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.
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U2 - 10.1016/j.braindev.2014.02.007
DO - 10.1016/j.braindev.2014.02.007
M3 - Article
C2 - 24650581
AN - SCOPUS:84919427357
SN - 0387-7604
VL - 37
SP - 171
EP - 174
JO - Brain and Development
JF - Brain and Development
IS - 1
ER -