Atormac
Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 2041  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 Search
 
  
 Resource Links
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (730 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this Article
   References
   Article Figures

 Article Access Statistics
    Viewed2298    
    Printed29    
    Emailed0    
    PDF Downloaded54    
    Comments [Add]    

Recommend this journal

 


 
Table of Contents    
NEUROIMAGES
Year : 2017  |  Volume : 65  |  Issue : 5  |  Page : 1191-1192

Canavan disease with typical brain MRI and MRS findings


1 Department of Pediatrics, Maxcure Suyosha Woman and Child Hospital, Hyderabad, Telangana, India
2 Department of Pediatrics, Sitaram Bhartia Institute of Science and Research, New Delhi, India

Date of Web Publication6-Sep-2017

Correspondence Address:
Anil V Israni
Department of Pediatrics, Maxcure Suyosha Woman and Child Hospital, Hyderabad, Telangana - 500 081
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/neuroindia.NI_92_17

Rights and Permissions



How to cite this article:
Israni AV, Mandal A. Canavan disease with typical brain MRI and MRS findings. Neurol India 2017;65:1191-2

How to cite this URL:
Israni AV, Mandal A. Canavan disease with typical brain MRI and MRS findings. Neurol India [serial online] 2017 [cited 2019 Sep 20];65:1191-2. Available from: http://www.neurologyindia.com/text.asp?2017/65/5/1191/214100




A 15-month old boy, the second child born out of a non-consanguineous marriage, with no adverse perinatal events, presented with a history of delayed attainment of milestones. At 15 months of age, the child had no head control. There was only social smile, and the child could only speak monosyllables. The salient findings on examination were macrocephaly and marked axial and appendicular hypotonia with brisk deep tendon reflexes.

Magnetic resonance imaging (MRI) of the brain T2 axial image [Figure 1]a revealed marked symmetrical hyperintensity of cerebral white matter involving the subcortical arcuate fibres. Hyperintensities were also observed in the dentate nuclei on T2-weighted axial sections at the level of the cerebellum [Figure 1]b. The axial section [Figure 1]c showed extensive diffusion restriction symmetrically in the subcortical white matter. There was no hydrocephalus, mass effect, or midline shift. Single-voxel magnetic resonance spectroscopy (MRS) from the left parietal white matter showed N-acetyl-aspartate (NAA) peak with normal creatine and choline peaks [Figure 1]d, consistent with the diagnosis of Canavan disease.
Figure 1: (a) MRI of brain, T2 axial image, showing marked symmetrical hyperintensity of cerebral white matter with involvement of the subcortical arcuate fibres; (b) T2-weighted axial section at the level of cerebellum showing hyperintensities in dentate nuclei; (c) Axial section showing extensive symmetrical diffusion restriction in the subcortical white matter; (d) Single voxel MRS from left parietal white matter showing NAA peak with normal creatine and choline peaks

Click here to view


The diagnosis was confirmed by elevated urine NAA levels and identification of a mutation within the aspartoacylase enzyme by polymerase chain reaction (PCR).

Canavan disease, also called as spongiform degeneration of cerebral white matter, is an autosomal recessive demyelinating disease caused by mutations in the aspartoacylase (ASPA) gene located in the short arm of chromosome 17, resulting in the deficiency of aspartoacyclase, which catalyzes the breakdown of NAA; excessive accumulation of NAA is responsible for the central nervous system changes in this disease.[1] Canavan disease demonstrates bilateral symmetric T2 white matter hyperintensity, including involvement of the subcortical arcuate fibers. The involvement is diffuse throughout the cerebral white matter, does not show enhancement on computed tomography (CT) or MR imaging, and demonstrates variable involvement of the basal ganglia and cerebellar white matter.[2] Differential diagnoses of Canavan disease based on imaging findings include other demyelinating diseases such as metachromatic leukodystrophy, adrenoleukodystrophy, Pelizaeus–Merzbacher disease (PMD), and Alexander disease. Both metachromatic leukodystrophy and adrenoleukodystrophy cause bilateral symmetric white matter hyperintensity on T2-weighted MRI with sparing of the subcortical white matter. In addition, adrenoleukodystrophy tends to progress in an orderly fashion from one portion of the brain to the next with an advancing edge of contrast enhancement. PMD demonstrates bilateral symmetric white matter T2 hyperintensity along with involvement of the subcortical arcuate fibers; however, PMD may also have marked cerebellar atrophy and progressive enlargement of cortical sulci.[3] These findings were not seen in this case. Further, PMD does not present with macrocephaly, and MRS reveals normal NAA levels.[4] Interestingly, cytotoxic edema with corresponding diffusion restriction on brain MRI has been noted as an early marker of Canavan disease in infants.[5] Similar finding was also observed in our case.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Moffett JR, Ross B, Arun P, Madhavarao CN, Namboodiri AM. N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology. Prog Neurobiol 2007;81:89-1311.  Back to cited text no. 1
[PUBMED]    
2.
McAdams HP, Geyer CA, Done SL, Deigh D, Mitchell M, Ghaed VN. CT and MR imaging of Canavan disease. AJNR Am J Neuroradiol 1990;11:397-9.  Back to cited text no. 2
[PUBMED]    
3.
Cheon JE, Kim IO, Hwang YS, Kim KJ, Wang KC, Cho BK, et al. Leukodystrophy in children: A pictorial review of MR imaging features. Radiographics 2002;22:461-76.  Back to cited text no. 3
[PUBMED]    
4.
Takanashi J, Sugita K, Osaka H, Ishii M, Niimi H. Proton MR spectroscopy in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol 1997;18:533-5.  Back to cited text no. 4
[PUBMED]    
5.
Merrill ST, Nelson GR, Longo N, Bonkowsky JL. Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in Canavan disease: Case report and review of the literature. Orphanet J Rare Dis 2016;11:169.  Back to cited text no. 5
    


    Figures

  [Figure 1]



 

Top
Print this article  Email this article
   
Online since 20th March '04
Published by Wolters Kluwer - Medknow