RT Journal Article
SR Electronic
T1 Osteopetrosis with Arnold Chiari malformation type I
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e254559
DO 10.1136/bcr-2023-254559
VO 16
IS 8
A1 Alagappan, Alamelu
A1 Satpathy, Amit Kumar
A1 Sahoo, Biswajit
A1 Nayak, Manoj Kumar
YR 2023
UL http://casereports.bmj.com/content/16/8/e254559.abstract
AB 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.