A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection

A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection

We report a Japanese 5-year-old boy with primary ciliary dyskinesia (PCD) which was diagnosed owing to <i>Clostridium difficile</i> (CD) infection caused by prolonged antibiotic exposure. He had intractable otitis media with effusion (OME) and had abdominal pain and diarrhea for 4 months...

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Main Authors: Rina Hasegawa, Shinji Suzuki, Shigeo Nishimata, Yasuyo Kashiwagi, Natsuko Inagaki, Hisashi Kawashima
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Pediatric Reports
Subjects:
ciliary dysfunction
OME
antibiotic exposure
<i>NODAL</i>
Online Access:https://www.mdpi.com/2036-7503/13/2/33
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spelling doaj-5f7e4442f7ea4a268dfc47e9ddc3c0b02021-05-31T23:32:24ZengMDPI AGPediatric Reports2036-75032021-05-01133324124410.3390/pediatric13020033A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> InfectionRina Hasegawa0Shinji Suzuki1Shigeo Nishimata2Yasuyo Kashiwagi3Natsuko Inagaki4Hisashi Kawashima5Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, JapanDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, JapanDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, JapanDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, JapanDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, JapanDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, JapanWe report a Japanese 5-year-old boy with primary ciliary dyskinesia (PCD) which was diagnosed owing to <i>Clostridium difficile</i> (CD) infection caused by prolonged antibiotic exposure. He had intractable otitis media with effusion (OME) and had abdominal pain and diarrhea for 4 months after starting antibiotics administration. His stool contained CD toxin. After vancomycin treatment, his symptoms improved and his stools did not contain CD toxin. His past medical history included frequent pneumonia. We, therefore, performed electron microscopy of the biopsy specimen from his nasal mucosa and genetic testing, and he was diagnosed with PCD. PCD is a rare inherited genetic disease causing ciliary dysfunction, which is very difficult to diagnose because some children without PCD also develop the same symptoms. Therefore, children who have intractable OME, rhinosinusitis, frequent pneumonia, or bronchitis and are taking antibiotics for long periods of time should be checked for underlying diseases, such as PCD.https://www.mdpi.com/2036-7503/13/2/33ciliary dysfunctionOMEantibiotic exposure<i>NODAL</i>
collection DOAJ
language English
format Article
sources DOAJ
author Rina Hasegawa
Shinji Suzuki
Shigeo Nishimata
Yasuyo Kashiwagi
Natsuko Inagaki
Hisashi Kawashima
spellingShingle Rina Hasegawa
Shinji Suzuki
Shigeo Nishimata
Yasuyo Kashiwagi
Natsuko Inagaki
Hisashi Kawashima
A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection
Pediatric Reports
ciliary dysfunction
OME
antibiotic exposure
<i>NODAL</i>
author_facet Rina Hasegawa
Shinji Suzuki
Shigeo Nishimata
Yasuyo Kashiwagi
Natsuko Inagaki
Hisashi Kawashima
author_sort Rina Hasegawa
title A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection
title_short A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection
title_full A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection
title_fullStr A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection
title_full_unstemmed A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection
title_sort case of primary ciliary dyskinesia caused by a mutation in <i>ofd1</i>, which was diagnosed owing to <i>clostridium difficile</i> infection
publisher MDPI AG
series Pediatric Reports
issn 2036-7503
publishDate 2021-05-01
description We report a Japanese 5-year-old boy with primary ciliary dyskinesia (PCD) which was diagnosed owing to <i>Clostridium difficile</i> (CD) infection caused by prolonged antibiotic exposure. He had intractable otitis media with effusion (OME) and had abdominal pain and diarrhea for 4 months after starting antibiotics administration. His stool contained CD toxin. After vancomycin treatment, his symptoms improved and his stools did not contain CD toxin. His past medical history included frequent pneumonia. We, therefore, performed electron microscopy of the biopsy specimen from his nasal mucosa and genetic testing, and he was diagnosed with PCD. PCD is a rare inherited genetic disease causing ciliary dysfunction, which is very difficult to diagnose because some children without PCD also develop the same symptoms. Therefore, children who have intractable OME, rhinosinusitis, frequent pneumonia, or bronchitis and are taking antibiotics for long periods of time should be checked for underlying diseases, such as PCD.
topic ciliary dysfunction
OME
antibiotic exposure
<i>NODAL</i>
url https://www.mdpi.com/2036-7503/13/2/33
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