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Článek

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration

Belohlavkova, Anezka
Autor Belohlavkova, Anezka Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic
Sterbova, Katalin
Autor Sterbova, Katalin Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic
Betzler, Cornelia
Autor Betzler, Cornelia Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, Vogtareuth, Germany Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University Salzburg, Austria
Burkhard, Stuve
Autor Burkhard, Stuve Children's Hospital Amsterdamer Straße, Kliniken der Stadt Köln, Cologne, Germany
Panzer, Axel
Autor Panzer, Axel Epilepsy Center, Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany
Wolff, Markus
Autor Wolff, Markus Department of Neuropediatrics, University Children's Hospital, Tübingen, Germany
Lassuthova, Petra
Autor Lassuthova, Petra Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic
Vlckova, Marketa
Autor Vlckova, Marketa Department of Biology and Medical Genetics, Charles University, Second Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic
Kyncl, Martin
Autor Kyncl, Martin Department of Radiology, Charles University, Second Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic
Benova, Barbora
Autor Benova, Barbora Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic

European journal of paediatric neurology. 2020 ; 28 (-) : 81-88. [pub] 20200804

Eur J Paediatr Neurol
ISSN 1532-2130
Medvik
Zdroj

BACKGROUND: Neurodegeneration with brain iron accumulation constitutes a group of rare progressive movement disorders sharing intellectual disability and neuroimaging findings as common denominators. Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. We aimed to describe in detail the phenotype of BPAN with a special focus on iron metabolism. MATERIAL AND METHODS: We present a cohort of paediatric patients with pathogenic variants of WD-Repeat Domain 45 gene (WDR45). The diagnosis was established by targeted panel sequencing of genes associated with epileptic encephalopathies (n = 9) or by Sanger sequencing of WDR45 (n = 1). Data on clinical characteristics, molecular-genetic findings and other performed investigations were gathered from all participating centres. Markers of iron metabolism were analysed in 6 patients. RESULTS: Ten children (3 males, 7 females, median age 8.4 years) from five centres (Prague, Berlin, Vogtareuth, Tubingen and Cologne) were enrolled in the study. All patients manifested first symptoms (e.g. epilepsy, developmental delay) between 2 and 31 months (median 16 months). Seven patients were seizure-free (6 on antiepileptic medication, one drug-free) at the time of data collection. Neurological findings were non-specific with deep tendon hyperreflexia (n = 4) and orofacial dystonia (n = 3) being the most common. Soluble transferrin receptor/log ferritin ratio was elevated in 5/6 examined subjects; other parameters of iron metabolism were normal. CONCLUSION: Severity of epilepsy often gradually decreases in BPAN patients. Elevation of soluble transferrin receptor/log ferritin ratio could be another biochemical marker of the disease and should be explored by further studies.