Brain & development · 2011
Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Rossi Daniela, De Grandis Elisa, Barzaghi Chiara, Mascaretti Monica, Garavaglia Barbara, Zanotto Elisabetta, Morana Giovanni, Biancheri Roberta
Аннотация
BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder caused by pantothenate kinase (PANK2) gene mutations. Brain magnetic resonance imaging (MRI) typically shows the "eye-of-the-tiger" sign, i.e. bilateral pallidal T2 hypointensity with a small central region of T2-hyperintensity.
AIMS: To describe clinical and MRI findings of a boy with early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.
METHODS: Clinical, neuroradiological and molecular investigations have been performed.
RESULTS: At first observation (2years and 10months) the boy presented only with developmental delay and toe-walking and isolated T2 hyperintensity within globi pallidi on brain MRI. One year later, small rounded areas of markedly low signal within the globi pallidi on T2∗- weighted images appeared in association with mild dystonia. PANK2 gene homozygous mutation confirmed the diagnosis of PKAN.
CONCLUSIONS: In young children, PKAN should be suspected also before clinical and neuroradiological picture is fully indicative, to avoid delayed diagnosis of a genetic disease for which therapeutical options could be potentially useful if administered in paucisymptomatic subjects.
AIMS: To describe clinical and MRI findings of a boy with early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.
METHODS: Clinical, neuroradiological and molecular investigations have been performed.
RESULTS: At first observation (2years and 10months) the boy presented only with developmental delay and toe-walking and isolated T2 hyperintensity within globi pallidi on brain MRI. One year later, small rounded areas of markedly low signal within the globi pallidi on T2∗- weighted images appeared in association with mild dystonia. PANK2 gene homozygous mutation confirmed the diagnosis of PKAN.
CONCLUSIONS: In young children, PKAN should be suspected also before clinical and neuroradiological picture is fully indicative, to avoid delayed diagnosis of a genetic disease for which therapeutical options could be potentially useful if administered in paucisymptomatic subjects.