Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report.

Hwang,  Sun Mi; Kong,  Young Hwa; Kim,  Sun Jun

doi:2014.22.3.169

Ann Child Neurol > Volume 22(3); 2014 > Article

Case Report

Journal of the Korean Child Neurology Society 2014;22(3):169-172.
DOI: https://doi.org/10.26815/jkcns.2014.22.3.169 Published online September 30, 2014.

Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report.

Sun Mi Hwang, Young Hwa Kong, Sun Jun Kim

Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea. sunjun@jbnu.ac.kr

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.

Key Words: Osteopetrosis, Rickets, Hydrocephalus