Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report.
- Author:
Sun Mi HWANG
1
;
Young Hwa KONG
;
Sun Jun KIM
Author Information
1. Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea. sunjun@jbnu.ac.kr
- Publication Type:Case Report
- Keywords:
Osteopetrosis;
Rickets;
Hydrocephalus
- MeSH:
Anemia;
Brain;
Child;
Congenital Abnormalities;
Female;
Humans;
Hydrocephalus*;
Infant;
Korea;
Magnetic Resonance Imaging;
Osteopetrosis*;
Osteoporosis;
Osteosclerosis;
Rare Diseases;
Rickets*;
Skull
- From:
Journal of the Korean Child Neurology Society
2014;22(3):169-172
- CountryRepublic of Korea
- Language:English
-
Abstract:
Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
