Download PDF
Neuropediatrics 2018; 49(06): 420-421
DOI: 10.1055/s-0038-1672175
Images in Neuropediatrics
Georg Thieme Verlag KG Stuttgart · New York

Juvenile Canavan Disease: A Leukodystrophy without White Matter Changes

Prashant Jauhari
1   Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Lokesh Saini
1   Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Biswaroop Chakrabarty
1   Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Atin Kumar
2   Department of Radiodiagnosis, Jai Prakash Narayan Trauma Centre, All India Institute of Medical Sciences, New Delhi, India
,
Sheffali Gulati
1   Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
› Author Affiliations Funding None.
Further Information

Publication History

21 June 2018

10 August 2018

Publication Date:
10 October 2018 (online)

    Permissions and Reprints

Introduction

A 5-year-old boy presented with insidious onset mild motor and speech delay. He was born to unrelated healthy parents. His perinatal period was uneventful. There has no history of loss of previously attained milestones. He could ambulate without assistance and talk in small sentences of 3 to 4 words. On examination, his head circumference was 50 cm (0 to + 1 SD). He had central hypotonia and brisk deep tendon reflexes. Magnetic resonance imaging (MRI) of brain showed symmetrical T2 hyperintense caudate, putamen, and medial thalami. Magnetic resonance spectroscopy (MRS) revealed an elevated N-acetylasparlate (NAA) peak ([Fig. 1]). These clinico-radiological findings were consistent with juvenile (mild) Canavan's disease (CD). Targeted ASPA gene analysis detected a pathogenic homozygous missense variation in exon 6 of the ASPA gene (chr17:3402303; A > G; p.Tyr288Cys; ENST00000263080) confirming the diagnosis. The parents did not undergo genetic testing.

Zoom Image
Fig. 1 T2 axial magnetic resonance image of the brain (A) shows bilateral symmetrical hyperintense signal changes in caudate, putamen and medial part of thalami. The white matter is normal. magnetic resonance spectroscopy (B) shows elevated NAA.

Canavan disease is a spongiform leukodystrophy caused by homozygous or compound heterozygous mutations in the ASPA gene. Classical MRI findings in CD include diffuse symmetrical white matter abnormalities, prominent early affection of subcortical U fibers, bilateral involvement of globus pallidum with sparing of caudate and putamen.[1] Anecdotal reports of atypical clinical (protracted disease course) and MRI patterns (absent white matter changes with symmetrical T2 hyperintense caudate and putamen), as seen in the index case, do exist in literature.[1] [2]

The index case reiterates the existence of a milder juvenile variant of CD with above described atypical radiological features.

 

  • References

  • 1 Van der Knaap MS, Valk J. Canavan disease. In: Magnetic Resonance of Myelination and Myelin Disorders. 3rd ed. Heidelberg/Berlin: Springer; 2005: 326-333
    Google Scholar
  • 2 Yalcinkaya C, Benbir G, Salomons GS. , et al. Atypical MRI findings in Canavan disease: a patient with a mild course. Neuropediatrics 2005; 36 (05) 336-339
    Article in Thieme ConnectPubMedGoogle Scholar