Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
| Autor: | Marialuisa Valente, Davide Tonduti, Pierangelo Veggiotti, Carlo Corbetta, Maria Iascone, Silvia Masnada, Luisa Chiapparini, Chiara Doneda, Luisella Alberti, Laura Assunta Saielli, Cecilia Parazzini, Mario Barbarini, Paolo Bini, Annalisa De Silvestri, Cristina Cereda |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Pathology medicine.medical_specialty Neurological examination Degeneration (medical) Disease medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Atrophy 030225 pediatrics ECHS1 Basal ganglia Medicine Humans Enoyl-CoA Hydratase Mutation medicine.diagnostic_test business.industry Brain Diseases Metabolic General Medicine medicine.disease Phenotype Magnetic Resonance Imaging Pediatrics Perinatology and Child Health Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 28 |
| ISSN: | 1532-2130 |
| Popis: | Introduction ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation. Despite that the clinical spectrum of the disease has not been defined so far due to the absence of previous systematic reviews and descriptions of large series of patients. Methods We performed a systematic literature review of so far reported ECHS1 mutated patients and we reported two additional cases. We pointed out clinical and neuroradiological features of all patients. Results 45 patients were included in the analysis. Based on clinical and neuroradiological feature we were able to distinguish four main phenotypes of ECHS1deficiency: a severe neonatal presentation with a rapid and fatal course and significant white matter abnormalities; a severe infantile variant with slower neurological deterioration, developmental delay, pyramidal and extrapyramidal signs, optic atrophy, feeding difficulties, and degeneration of the deep gray nuclei; a slowly progressive infantile form, qualitatively similar to the previous phenotype, but less severe with mainly basal ganglia involvement; and a final phenotype, present in only few cases, characterized by paroxysmal exercise-induced dystonic attacks, normal neurological examination between these episodes, and isolated pallidal degeneration on MRI. Interpretation ECHS1 mutations cause metabolic encephalopathy with a wide range of clinical presentations that can be grouped into four main phenotypes, each with a distinct profile in terms of severity on clinical presentation, disease course and MRI involvement. |
| Databáze: | OpenAIRE |
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