Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation |
| |
Authors: | Rossi Daniela De Grandis Elisa Barzaghi Chiara Mascaretti Monica Garavaglia Barbara Zanotto Elisabetta Morana Giovanni Biancheri Roberta |
| |
Institution: | Child Neurology and Psychiatry Unit, G. Gaslini Institute, Genova, Italy. danielapaolarossi@fastwebnet.it |
| |
Abstract: | 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 (2 years and 10 months) 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. |
| |
Keywords: | Magnetic resonance imaging Basal ganglia PANK2 |
本文献已被 ScienceDirect PubMed 等数据库收录! |