home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 273      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2021  |  Volume : 16  |  Issue : 4  |  Page : 285-288

Development delay in a child with microcephaly and birth asphyxia: Explore diagnosis beyond hypotonic cerebral palsy


1 Department of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India
2 Department of Pediatric Surgery, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India

Correspondence Address:
Dr. Jasbir Singh
Department of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak 124001, Haryana
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_126_20

Rights and Permissions

We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findings of “molar tooth sign” appearance along with vermian hypoplasia. We present this case to alert the clinicians to explore all the differential diagnoses carefully whenever a child presents with the developmental delay associated with multisystem involvement.






[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
    Viewed782    
    Printed46    
    Emailed0    
    PDF Downloaded42    
    Comments [Add]    

Recommend this journal