Juvenile-onset Mitochondrial-membrane Protein- associated Neurodegeneration with Late Diagnosis (CROSBI ID 313360)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Perković, Romana ; Gotovac Jerčić, Kristina ; Frančić, Manuela ; Ozretić, David ; Borovečki, Fran
engleski
Juvenile-onset Mitochondrial-membrane Protein- associated Neurodegeneration with Late Diagnosis
Neurodegeneration with brain iron accumulation (NBIA) encompasses a number of heritable disorders affecting children and adults characterized by diverse clinical manifestations and brain iron deposition detected on magnetic resonance imaging (MRI). The most frequent NBIA subtypes are pantothenate kinase-associated neurodegeneration, phospholipase A2-associated neurodegeneration, fatty acid-2 hydroxylase- associated neurodegeneration and mitochondrial- membrane proteinassociated neurodegeneration (MPAN). Here, we report a male patient presenting with optic atrophy, progressive cognitive and movement impairment, bilateral hypointensity of the basal ganglia on T2-weighted MRI and proven mutation for MPAN. The NBIA disorders can remain undiagnosed for 3 to 30 years. In children developing optic atrophy, NBIA should be taken into consideration.
Mitochondrial protein associated neurodegeneration, neurodegeneration with brain iron accumulation, C19orf12
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Podaci o izdanju
28 (2)
2022.
118-121
objavljeno
1301-062X
10.4274/tnd.2022.26125