home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 707      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORTS
Year : 2018  |  Volume : 13  |  Issue : 3  |  Page : 349-351

Glutaric aciduria type 1 with microcephaly: Masquerading as spastic cerebral palsy


1 Department of Paediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
2 Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Dr. Indar K Sharawat
188, 2nd Floor, Behind All India Institute of Medical Sciences (AIIMS), Gautam Nagar, New Delhi 110049
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_79_17

Rights and Permissions

Glutaric aciduria type 1 (GA-1) is an autosomal-recessive disorder caused by the deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase. A 13-month-old boy presented with microcephaly, developmental delay, and progressive spasticity and was being treated as spastic cerebral palsy, later on had loss of developmental milestones after acute episode of illness at 12 months of age. The magnetic resonance imaging of brain revealed widened Sylvian fissure, hyperintensities in bilateral globus pallidus, and bilateral frontoparietal atrophy along with white matter loss. The urine examination by gas chromatography–mass spectroscopy revealed a marked excretion of glutaric acid and 3-hydroxyglutaric acid. The diagnosis of GA-1 was confirmed on the basis of characteristic neuroimaging, biochemical, and mutation studies. There are rare reports in the literature about association of GA-1 with microcephaly. The child was started on trihexyphenidyl, l-carnitine, and high-dose riboflavin, and dietary therapy in the form of low-protein diet was advised.






[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
    Viewed141    
    Printed3    
    Emailed0    
    PDF Downloaded19    
    Comments [Add]    

Recommend this journal