title: A case of Canavan disease with microcephaly.
abstract: BACKGROUND
  Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly.
  
  
  METHODS
  We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly.
  
  
  RESULTS
  MRI brain revealed diffuse involvement of the supra tentorial white matter, globus pallidi, thalami, dentate nuclei and brainstem with sparing of the corpus callosum. The genetic testing revealed homozygous mutation of aspartoacylase gene [c.859 G>A (p.Ala287Thr)] in Exon 6.
  
  
  CONCLUSIONS
  Possibility of Canavan disease should be considered even in the presence of microcephaly.
authors.affiliation: Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India. Electronic address: drknvraju@hotmail.com.
authors.forename: Vykuntaraju K
authors.initials: VK
authors.lastname: Gowda
authors.affiliation: Department of Neuroimaging and Intervention Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Maya D
authors.initials: MD
authors.lastname: Bhat
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, India.
authors.forename: Varun M
authors.initials: VM
authors.lastname: Srinivasan
authors.affiliation: Department of Neuroimaging and Intervention Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Chandrajit
authors.initials: C
authors.lastname: Prasad
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, India.
authors.forename: Asha
authors.initials: A
authors.lastname: Benakappa
authors.affiliation: CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Faruq
mesh_terms: D000581:Amidohydrolases / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging*; D017825:Canavan Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D012640:Seizures / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology
chemical_list: D000581:Amidohydrolases; C019751:aspartoacylase
keywords: Canavan disease; Microcephaly; N-acetylaspartic acid (NAA)