home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 245      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 ORIGINAL ARTICLE
Year : 2020  |  Volume : 15  |  Issue : 2  |  Page : 94-98

Clinico-radiological profile of children with pontocerebellar hypoplasia


1 Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute (MGMCRI), Pondicherry, India
2 Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India
3 Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands
4 Department of Radiodiagnosis, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India and, India
5 Department of Pediatrics, Medanta – The Medicity, Gurugram, Haryana, India

Correspondence Address:
Dr. Naveen Sankhyan
Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_6_19

Rights and Permissions

Aims and Objectives: Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous group of neurodegenerative/neurodevelopmental disorder of pons and cerebellum with onset in prenatal period. This study aimed to discuss the clinical, radiological profile, and outcome of four infants with PCH attending our center. Materials and Methods: Data of children with psychomotor retardation seen between January 2015 and December 2015 at neurodevelopmental clinic was retrieved. PCH was defined by clinical and radiological criteria. Clinical features included were delay in attainment of milestones in more than two developmental domains accompanied by severe microcephaly. Radiological evidence of cerebellar volume loss with hypoplasia of pons was included. Patient charts were reviewed for clinical features, neuroimaging, electroencephalography, and biochemical investigations including serum and cerebrospinal lactate. Molecular genetic testing for the common p.A307S mutation in TSEN54 of the cases and their parents were also analyzed. Results: During this period, 101 children with psychomotor retardation were evaluated at our center. Of the 101, four children were with clinical and radiological evidence of PCH. In addition to psychomotor retardation and severe microcephaly, spasticity, bipyramidal signs, and epileptic spasms were universal in all four children. Three of the four children had optic atrophy and two had sensorineural hearing loss. Severe cerebellar hypoplasia with attenuated pons was seen in all four children. Two children had dragonfly appearance of cerebellum on coronal section. The commonest TSEN54 p.A307S mutation in children and their parents was not detected. Conclusion: A heightened index of suspicion for PCH is merited in infants with progressive psychomotor retardation and severe microcephaly. Cerebellar hypoplasia with pontine attenuation forms the mainstay of diagnosis of PCH






[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
    Viewed307    
    Printed22    
    Emailed0    
    PDF Downloaded38    
    Comments [Add]    

Recommend this journal