A case of juvenile Canavan disease with distinct pons involvement
| Autor: | Nafiye Emel Çakar, Tuğçe Aksu Uzunhan |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty business.industry Putamen Leukodystrophy Caudate nucleus Macrocephaly General Medicine medicine.disease Pons Canavan disease White matter 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Developmental Neuroscience Pediatrics Perinatology and Child Health Basal ganglia Medicine Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Brain and Development. 42:222-225 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/j.braindev.2019.11.009 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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