Abstract
Background: Progressive encephalopathies (PE) create a diverse group of neurological diseases, that may occur in children as well as in adults Over the last twenty-five years the field PE has envolved from a limited group of rare, untreatable disorders to an important cause of acutely life-threating, but, for some number, treatable diseases That is why the early establishment of the diagnosis is an essential issue also for genetic counselling.
Material and methods: Authors present a group of 256 children diagnosed with PE, hospitalized over years 1999 - 2009 in Child Neurology Department, Medical University of Silesia, Katowice, Poland.
Results: Based on performed metabolic and genetic work-up (metabolic screening, neuropathological examinations, neuroimaging studies, molecular tests) in 127 patients leukodystrophies of known origin were diagnosed In 37 cases lysosomal storage diseases were recognized, 24 children suffered from mitochondrial diseases, peroxisomal diseases occurred in 9 patients Disorders of intermediatory metabolism (aminoacidopathies, organic acidurias, disorders of ammonia detoxification, disorders of fatty acid oxidation, of carbohydrate metabolism) were found in 50 children Remaining 7 patients were diagnosed with other encephalopathies (f.e. Pelizaeus-Merzbacher disease, MLC, GLUT-1)
Conclusions: Due to the wide range of biochemical, histological and molecular study provided and symptoms-based approach in 127 children with PE it was possible to establish the appropriate Diagnoses.
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Jamroz, E., Paprocka, J., Pytel, J. et al. 680 Progressive Encephalopathies in Children. Pediatr Res 68 (Suppl 1), 346 (2010). https://doi.org/10.1203/00006450-201011001-00680
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DOI: https://doi.org/10.1203/00006450-201011001-00680