title: Severe early onset ethylmalonic encephalopathy with West syndrome.
abstract: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.
authors.affiliation: Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Papetti
authors.affiliation: Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Garone
authors.affiliation: Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Schettini
authors.affiliation: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Rome, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Giordano
authors.affiliation: Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.affiliation: Pediatric Emergency and Intensive Care, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Papoff
authors.affiliation: MRC Mitochondrial Biology Unit, Cambridge, CB2 0XY, UK.
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.affiliation: Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
authors.affiliation: Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy. childneurology.sapienzaroma@live.it.|Department of Pediatrics - Child Neurology Division, Università "Sapienza" Roma, Viale Regina Elena 324, 00161, Rome, Italy. childneurology.sapienzaroma@live.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
mesh_terms: D000595:Amino Acid Sequence; D015415:Biomarkers / Q000097:blood; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D024101:Mitochondrial Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics; D011693:Purpura / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D015415:Biomarkers; C483228:ETHE1 protein, human; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins
keywords: ETHE1; Ethylmalonic encephalopathy; West syndrome