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J Pediatr Genet 2022; 11(04): 267-271
DOI: 10.1055/s-0041-1725118
Original Article

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

Maya Dattatraya Bhat
1   Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Netravathi Manjunath
2   Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Renu Kumari
3   Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, New Delhi
,
Mohammed Faruq
4   Department of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India
,
Pramod Kumar Pal
2   Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Chandrajit Prasad
1   Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Ravindranadh Chowdary Mundlamuri
2   Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Atchayaram Nalini
2   Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Gautham Arunachal Udupi
5   Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Priyanka Priyadarshini Baishya 
1   Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Karthik Kulanthaivelu
1   Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
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Abstract

Cribriform appearance of the brain in Canavan disease is a rare finding. The two presented cases broaden the magnetic resonance imaging (MRI) phenotype wherein numerous oval, cystic structures, a few resembling dilated Virchow-Robin (VR) spaces, were noted in the centrum semiovale, periventricular, and lobar white matter producing a cribriform pattern. Besides, discrete round to oval cysts were present at the gray–white matter junctions in the second case, which were larger and appeared morphologically distinct from the VR spaces. These cysts did not elongate in any plane on imaging and were more representative of giant intramyelinic vacuoles. Genetic analysis revealed novel mutations in the aspartoacylase or ASPA gene that possibly accounts for the severe form of Canavan disease, which probably explains the imaging findings. The multicystic appearance of the white matter in Canavan disease is unusual and possibly represents two different histopathological substrates.

Keywords

Canavan disease - cribriform - novel mutation


Publication History

Received: 17 December 2020

Accepted: 22 January 2021

Article published online:
10 March 2021

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