Camilla Russo1, Anna Ardissone2,3, Elena Freri2, Serena Gasperini4, Marco Moscatelli5, Giovanna Zorzi2, Celeste Panteghini6, Barbara Castellotti7, Barbara Garavaglia6, Nardo Nardocci2, Luisa Chiapparini5. 1. Department of Advanced Biomedical Sciences "Federico II" University of Naples Naples Italy. 2. Department of Paediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy. 3. Department of Molecular and Translational Medicine, DIMET University of Milan-Bicocca Milan Italy. 4. Metabolic Rare Diseases Unit, Paediatric Department, MBBM Foundation San Gerardo Hospital Monza Italy. 5. Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy. 6. Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy. 7. Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
Abstract
BACKGROUND AND METHODS: Mutations in WDR45 cause β-propeller protein-associated neurodegeneration (BPAN), a type of neurodegeneration with brain iron accumulation (NBIA). We reviewed clinical and MRI findings in 4 patients with de novo WDR45 mutations. RESULTS: Psychomotor delay and movement disorders were present in all cases; early-onset epileptic encephalopathy was present in 3. In all cases, first MRI showed: prominent bilateral SN enlargement, bilateral dentate nuclei T2-hyperintensity, and corpus callosum thinning. Iron deposition in the SN and globus pallidus (GP) only became evident later. Diffuse cerebral atrophy was present in 3 cases. CONCLUSIONS: In this series, SN swelling and dentate nucleus T2 hyperintensity were early signs of BPAN, later followed by progressive iron deposition in the SN and GP. When clinical suspicion is raised, MRI is crucial for identifying early features suggesting this type of NBIA.
BACKGROUND AND METHODS: Mutations in WDR45 cause β-propeller protein-associated neurodegeneration (BPAN), a type of neurodegeneration with brain iron accumulation (NBIA). We reviewed clinical and MRI findings in 4 patients with de novo WDR45 mutations. RESULTS: Psychomotor delay and movement disorders were present in all cases; early-onset epileptic encephalopathy was present in 3. In all cases, first MRI showed: prominent bilateral SN enlargement, bilateral dentate nuclei T2-hyperintensity, and corpus callosum thinning. Iron deposition in the SN and globus pallidus (GP) only became evident later. Diffuse cerebral atrophy was present in 3 cases. CONCLUSIONS: In this series, SN swelling and dentate nucleus T2 hyperintensity were early signs of BPAN, later followed by progressive iron deposition in the SN and GP. When clinical suspicion is raised, MRI is crucial for identifying early features suggesting this type of NBIA.
Entities:
Keywords:
BPAN; NBIA; magnetic resonance imaging; neurodegeneration with brain iron accumulation; parkinsonism; substantia nigra
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