A case of juvenile Canavan disease with distinct pons involvement
Nafiye Emel Çakar1, Tuğçe Aksu Uzunhan2
1University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Paediatric Metabolism, Turkey.
Insights
Juvenile Canavan disease, a rare leukodystrophy, can present with tremor and basal ganglia involvement, not just white matter changes. This case highlights a unique presentation in a 13-year-old with a specific genetic mutation.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
- Leukodystrophies
Background:
- Canavan disease is a rare genetic neurodegenerative disorder affecting white matter.
- It typically presents in infancy with developmental delay, macrocephaly, and visual issues.
- Congenital and juvenile forms are also recognized.
Observation:
- A 13-year-old male diagnosed with juvenile Canavan disease presented with intentional tremor as the sole clinical symptom.
- This contrasts with typical infantile presentations.
Findings:
- MRI revealed significant involvement of the caudate nucleus and pons, extending to the mesencephalon, putamen, and thalamus.
- Notably, there was no apparent signal alteration in the cerebral white matter.
- A homozygous p.Gly274Arg (c.820A>G) missense mutation was identified.
Implications:
- This case describes a previously unreported presentation of juvenile Canavan disease with predominant pons and basal ganglia involvement.
- It suggests that juvenile Canavan disease may manifest with atypical neuroimaging findings, emphasizing the need for genetic testing in suspected cases.
- Understanding these rare forms expands diagnostic criteria and informs potential therapeutic strategies for leukodystrophies.
Background:
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.
Patient Description:
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.
Results:
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.
Conclusion:
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.
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