<%server.execute "isdev.asp"%> Toddler with frequent falls and neuroregression: Imaging clues! Sharawat IK, Dawman L, Panda PK - J Pediatr Neurosci
home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 207      Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
  Table of Contents    
NEUROIMAGING
Year : 2020  |  Volume : 15  |  Issue : 3  |  Page : 332-333
 

Toddler with frequent falls and neuroregression: Imaging clues!


1 Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Submission03-Jan-2020
Date of Acceptance19-Mar-2020
Date of Web Publication06-Nov-2020

Correspondence Address:
Dr. Indar K Sharawat
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_6_20

Rights and Permissions

 

   Abstract 

Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture and early death. Here we report a toddler who presented with frequent falls and cognitive regression. Magnetic resonance imaging (MRI) showed a striking leopard skin pattern. Recognition of this pattern on MRI in proper clinical context can serve as a clue to the diagnosis.


Keywords: Aryl sulfatase A, leopard skin pattern, metachromatic leukodystrophy, neuroregression, tigroid skin pattern


How to cite this article:
Sharawat IK, Dawman L, Panda PK. Toddler with frequent falls and neuroregression: Imaging clues!. J Pediatr Neurosci 2020;15:332-3

How to cite this URL:
Sharawat IK, Dawman L, Panda PK. Toddler with frequent falls and neuroregression: Imaging clues!. J Pediatr Neurosci [serial online] 2020 [cited 2020 Nov 23];15:332-3. Available from: https://www.pediatricneurosciences.com/text.asp?2020/15/3/332/300060




A 3-year-old girl, born to third degree consanguineous parents, presented with history of frequent fall, toe walking, feeding difficulties, dysarthria, and progressive cognitive regression for the past 1 year. There was no history of seizures and any neurological illness in other family members. She was born at term with an uncomplicated delivery. On examination, she was bedridden, had normal head size (50th centile), visual and auditory inattention, optic atrophy, spasticity, exaggerated muscle stretch reflexes, and ankle clonus. Nerve conduction study was unremarkable. Magnetic resonance imaging (MRI) of the brain showed T2-weighted hyperintense signal in corpus callosum, periventricular and deep white matter, and centrum semiovale (leopard skin pattern) [Figure 1]. Her aryl sulfatase-A enzyme levels were markedly reduced (7.8 nmol/h/mg; normal: 58–190 nmol/h/mg), and next-generation sequencing revealed pathogenic missense homozygous variant in ARSA gene, confirming the diagnosis of late-infantile metachromatic leukodystrophy (MLD).
Figure 1: MRI of the brain of a child with MLD. T2-weighted axial sections (A and B) showed hyperintense signal in periventricular and central white matter (parieto-occipital dominant), centrum semiovale, genu and splenium of the corpus callosum, posterior limb of internal capsule, and partially affected subcortical U fibers. Note the striking leopard skin pattern

Click here to view


Late infantile MLD is an autosomal recessively inherited neurodegenerative disorder caused by a deficiency in the enzyme activity of aryl sulfatase-A.[1],[2] It is characterized by symptom onset between 1 and 3 years of age, gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture, and an early death.[3] MRI in late infantile MLD typically shows involvement of periventricular and deep white matter, cerebellar white matter, corpus callosum, posterior limb of internal capsule, and projection fibers of brain stem. Subcortical U fibers are usually spared in initial stage but can be involved in later stage. The leopard or tigroid skin pattern, formed by radiating stripes (due to relatively spared myelin or lipid storage) with bands of normal signal intensity within the sheet-like white matter abnormality, is a characteristic MRI feature of advanced disease.[4] This pattern has also been described in Krabbe’s disease and Pelizaeus–Merzbacher disease.[5] Recognition of this tigroid or leopard skin pattern on MRI in proper clinical context can serve as a clue to the diagnosis.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Biffi A, Lucchini G, Rovelli A, Sessa M Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 2008;42(Suppl 2):S2-6.  Back to cited text no. 1
    
2.
Gieselmann V Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr 2008;97:15-21.  Back to cited text no. 2
    
3.
Gieselmann V, Krägeloh-Mann I Metachromatic leukodystrophy—an update. Neuropediatrics 2010;41:1-6.  Back to cited text no. 3
    
4.
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol 2009;30:1893-7.  Back to cited text no. 4
    
5.
Sharawat IK, Saini AG, Vyas S, Sankhyan N Cystic changes and optic nerve hypertrophy in early infantile neuroregression. Indian J Pediatr 2019;86:863-4.  Back to cited text no. 5
    


    Figures

  [Figure 1]



 

Top
Print this article  Email this article
 
 
  Search
 
  
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (479 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
    References
    Article Figures

 Article Access Statistics
    Viewed74    
    Printed0    
    Emailed0    
    PDF Downloaded6    
    Comments [Add]    

Recommend this journal