Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports
Autor: | Athanasia Anastasiou, E. Papathanasiou, Giese Ak, E. Dimitriou, Spyros Batzios, Dimitrios I. Zafeiriou, Helen Michelakakis, M. Kyriazi, Euthymia Vargiami |
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Rok vydání: | 2016 |
Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty medicine.medical_treatment Case Report Disease QH426-470 medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Genetics medicine Genetics (clinical) β-galactocerebrosidase (β-GALC) Mutation medicine.diagnostic_test Respiratory tract infections business.industry Leukodystrophy GALC gene Magnetic resonance imaging medicine.disease Gastrostomy 030104 developmental biology Krabbe disease Nerve conduction velocity (NCV) Age of onset business 030217 neurology & neurosurgery |
Zdroj: | Balkan Journal of Medical Genetics : BJMG Balkan Journal of Medical Genetics, Vol 19, Iss 1, Pp 85-90 (2016) |
ISSN: | 1311-0160 |
Popis: | Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient’s brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased. The second patient’s MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in β-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the GALC gene, the c.411_413delTAA [p.K139del] mutation in the first patient, and the c.749T>C [p.I250T] mutation in the second patient, were identified. At their last follow-up visit at the age of 4 and 6 years, respectively, both patients were bedridden and quadri-plegic, suffering from frequent respiratory tract infections and fed through a gastrostomy. Both mutations found in homozygosity in these two unrelated patients of Greek ancestry, could pinpoint a common origin. Genotyping of patients with Krabbe disease is important, in order to contribute to the creation of a European mutation database and to further study possible genotype-phenotype correlations of the disease. |
Databáze: | OpenAIRE |
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