Osteopetrosis with Arnold Chiari malformation type I.
congenital disorders
neuroimaging
paediatric prescribing
radiology
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
16 Aug 2023
16 Aug 2023
Historique:
pmc-release:
16
08
2025
medline:
18
8
2023
pubmed:
17
8
2023
entrez:
16
8
2023
Statut:
epublish
Résumé
Osteopetrosis is a rare genetic disorder resulting in increased bone density and decreased bone remodelling. Bone expansion results in the crowding of neural foramina causing cranial nerve compression. Here, we describe a female infant in her mid infancy presented with no eye contact since birth, and abdominal distension for 2 months. On CT evaluation, sclerotic bones with bilateral optic canal narrowing were present. A crowded posterior fossa with Arnold Chiari type I malformation was seen on MRI evaluation, suggesting a rare association of osteopetrosis with Arnold Chiari's malformation.
Identifiants
pubmed: 37586757
pii: 16/8/e254559
doi: 10.1136/bcr-2023-254559
pmc: PMC10432654
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.