<%server.execute "isdev.asp"%> Lissencephaly–pachygyria masquerading as leukodystrophy on magnetic resonance imaging brain Israni AV, Mandal A - J Pediatr Neurosci
home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 1479      Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
  Table of Contents    
NEUROIMAGING
Year : 2017  |  Volume : 12  |  Issue : 2  |  Page : 154-155
 

Lissencephaly–pachygyria masquerading as leukodystrophy on magnetic resonance imaging brain


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 Publication10-Aug-2017

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

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_192_16

Rights and Permissions

 



How to cite this article:
Israni AV, Mandal A. Lissencephaly–pachygyria masquerading as leukodystrophy on magnetic resonance imaging brain. J Pediatr Neurosci 2017;12:154-5

How to cite this URL:
Israni AV, Mandal A. Lissencephaly–pachygyria masquerading as leukodystrophy on magnetic resonance imaging brain. J Pediatr Neurosci [serial online] 2017 [cited 2019 Aug 24];12:154-5. Available from: http://www.pediatricneurosciences.com/text.asp?2017/12/2/154/212808


A 15-month-old male child, 1st born to nonconsanguineous parents, presented with global developmental delay, from the beginning. At the time of presentation, he had wobbly head holding with inability to turn over the abdomen. There was presence of social smile, and he could only produce cooing sounds. There was neither history of seizure nor any vision or hearing-related concerns. Examination revealed microcephaly without any facial dysmorphism or neurocutaneous markers. There was hypotonia (both axial and appendicular) with brisk deep tendon reflexes but no cranial nerve deficit. MRI brain revealed posterior predominant lissencephaly (LIS) - pachygyria [Figure 1] with the typical “tigroid pattern” on axial MRI [Figure 2] marked by symmetric diffuse high-signal intensity on T2-weighted images in the cerebral white matter with radially oriented stripes of low-signal intensity suggesting a leukodystrophy [Figure 1]. Serum creatine phosphokinase levels were within normal limits. In the absence of other associated features, and brisk deep tendon reflexes, the diagnosis of congenital muscular dystrophy, which may be associated with pachygyria, was unlikely. Genetic analysis by exome sequencing revealed homozygous pathogenic frameshift mutation involving LIS1 gene c. 165dupA. The typical “tigroid pattern” on axial MRI or “leopard pattern” on the sagittal view has been classically described in leukodystrophies such as Pelizaeus–Merzbacher disease, Krabbe disease, or Metachromatic leukodystrophy.[1] However, the tigroid pattern has been reported in LIS with cerebellar hypoplasia by Kono et al.[2] and in frontal predominant pachygyria by Roy et al.[3] Malformations of cortical development and myelination abnormalities are not mutually exclusive, and it has been suggested that genes responsible for neuronal migration may also be involved in white matter formation.[2]
Figure 1: Magnetic resonance imaging brain (a) T2-weighted axial image showing lissencephaly posteriorly and pachygyria anteriorly with prominent deep white matter signal changes with radial striping suggesting a leukodystrophy; (b) T2 sagittal and (c) coronal image also show similar appearance in deep white matter, along with lissencephaly-pachygyria pattern

Click here to view
Figure 2: Magnetic resonance imaging brain T1 axial section (a and b) shows tiny hypointensities in hyperintense deep white matter suggesting perivascular sparing of white matter involvement, giving rise to the “tigroid pattern”

Click here to view


Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Kim TS, Kim IO, Kim WS, Choi YS, Lee JY, Kim OW, et al. MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol 1997;18:733-8.  Back to cited text no. 1
    
2.
Kono T, Moriyama N, Tanaka R, Iwasaki N, Arai J. Tigroid pattern of the white matter: A previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. Pediatr Radiol 2008;38:1105-8.  Back to cited text no. 2
    
3.
Roy U, Pandit A, Das U, Panwar A. “Reverse tigroid” pattern in pachygyria: A novel finding. J Clin Imaging Sci 2016;6:15.  Back to cited text no. 3
[PUBMED]  [Full text]  


    Figures

  [Figure 1], [Figure 2]



 

Top
Print this article  Email this article
 
 
  Search
 
  
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (550 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    References
    Article Figures

 Article Access Statistics
    Viewed943    
    Printed9    
    Emailed0    
    PDF Downloaded55    
    Comments [Add]    

Recommend this journal