1 - Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona; CIBER-ER Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Barcelona;
2 - Serviço de Neurologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central EPE, Lisboa; Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa
Journal Inherited Metabolic Diseases 2014 Jul;37(4):627-42
Parkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic-rigid syndrome” (HRS) is more accurate in children. In general, the terms “dystonia-parkinsonism”, “parkinsonism-plus”, or “parkinsonism-like” are preferred to designate these forms of paediatric HRS. Inborn errors of metabolism (IEM) constitute an important group amongst the genetic causes of Parkinsonism at any age. The main IEM causing Parkinsonism are metal-storage diseases, neurotransmitter defects, lysosomal storage disorders and energy metabolism defects. IEM should not be neglected as many of them represent treatable causes of Parkinsonism. Here we review IEMs causing this neurological syndrome and propose diagnostic approaches depending on the age of onset and the associated clinical and neuroimaging features.
Palavras Chave: Erros inatos metabolismo, parkinsonismo, neurotransmissores