A case of juvenile Canavan disease with distinct pons involvement

Canavan disease is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of the white matter. Its key clinical features in the infantile form are developmental delay, visual problems and macrocephaly. Congenital and juvenile forms have also been described. We report on a...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2020-02, Vol.42 (2), p.222-225
Main Authors: Çakar, Nafiye Emel, Aksu Uzunhan, Tuğçe
Format: Article
Language:English
Subjects:
Adolescent
Amidohydrolases - genetics
Basal Ganglia - pathology
Brain - pathology
Canavan disease
Canavan Disease - diagnosis
Canavan Disease - genetics
Canavan Disease - pathology
Caudate nucleus
Developmental Disabilities - pathology
Humans
Magnetic Resonance Imaging
Male
Megalencephaly
Pons
Pons - metabolism
Pons - pathology
Tremor
White Matter - pathology
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Summary:Canavan disease is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of the white matter. Its key clinical features in the infantile form are developmental delay, visual problems and macrocephaly. Congenital and juvenile forms have also been described. We report on a 13-year-old boy who is a high school student in a public school. He was diagnosed with juvenile Canavan disease, presenting with intentional tremor as the only clinical finding. Magnetic resonance imaging revealed mainly the involvement of the caudate nucleus and pons extending to the mesencephalon and also the putamen and the thalamus, with no apparent signal increase in the cerebral white matter. A homozygous p.Gly274Arg (c.820A>G) missense mutation was identified. Juvenile Canavan disease with mainly pons involvement has not been published before. Pons, caudate nucleus and basal ganglia involvement without any white matter being involved could be expected in juvenile Canavan disease as a rare form of the disease.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2019.11.009