Home About us Current issue Back issues Submission Instructions Advertise Contact Login   

Search Article 
  
Advanced search 
 
Saudi Journal of Kidney Diseases and Transplantation
Users online: 77 Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size 

CASE REPORT Table of Contents   
Year : 2012  |  Volume : 23  |  Issue : 5  |  Page : 1038-1042
Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRMP6 gene mutation


1 Pediatric Department, Maternity and Children Hospital, Madinah, Saudi Arabia
2 Pediatric Department, Ohud General Hospital, Madinah, Saudi Arabia
3 Pediatric Nephrology, University Children Hospital, Philipps University, Baldingerstrasse, Marburg, Germany

Correspondence Address:
Abdelhadi M Habeb
Department of Pediatrics, Maternity and Children Hospital, P.O. Box 25374, Madinah
Saudi Arabia
Login to access the Email id


DOI: 10.4103/1319-2442.100945

Rights and Permissions

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condi­tion caused by mutations in the Transient Receptor Potential Melastatin 6 (TRMP6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however, intracranial calcification has not been previously reported in HSH. We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets. However, further biochemical analysis of blood and urine were suggestive of HSH. This diagnosis was confirmed by mutation analysis, which identified a novel homozygous frame shift mutation (ins 2999T) of the TRMP6 gene. A computed tomography brain scan, done around the time of diagnosis, identified bilateral basal ganglia calcification (BGC). Her serum calcium and the BGC improved with magnesium replacement. BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents.


[FULL TEXT] [PDF]*
Print this article  Email this article
    

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

 Article Access Statistics
    Viewed3723    
    Printed73    
    Emailed0    
    PDF Downloaded557    
    Comments [Add]    
    Cited by others 2    

Recommend this journal