Home Print this page Email this page Small font sizeDefault font sizeIncrease font size
Users Online: 996
 
About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Advertise Login 
     
CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 2  |  Page : 96-98

Hypocalcemia, seizures, and impairment of vision in a neonate


1 Department of Pediatrics, Division of Neonatology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
2 Department of Pediatrics, Division of Pulmonology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
3 Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
4 Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota, USA

Correspondence Address:
Dr. Sashi Kumar Kona
1 Children's Way, Slot 512-05, Little Rock, AR 72202
USA
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_63_17

Rights and Permissions

Osteopetrosis is a rare, heterogeneous group of inherited diseases characterized by increased bone mass and density due to defective osteoclasts, leading to failure in bone resorption. Pathological features are related to increase in bone mass density and altered craniofacial morphology. Cranial nerve compression due to narrowing of cranial foramina can lead to progressive blindness and deafness. Bone marrow failure can lead to pancytopenia and life-threatening infections. Early diagnosis is crucial due to a short window of opportunity for curative treatment and to prevent complications such as visual impairment. We present the case of a late-preterm infant who had recurrent hypocalcemic seizures and visual impairment. Genetic testing confirmed the diagnosis of autosomal recessive osteopetrosis.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
  Search Pubmed for
  Search in Google Scholar for
Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed919    
    Printed31    
    Emailed0    
    PDF Downloaded121    
    Comments [Add]    

Recommend this journal