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.
Severe early onset ethylmalonic encephalopathy with west syndrome / Papetti, Laura; Garone, Giacomo; Schettini, Laura; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, M; Leuzzi, Vincenzo; Spalice, Alberto. - In: METABOLIC BRAIN DISEASE. - ISSN 0885-7490. - STAMPA. - 30:6(2015), pp. 1537-1545. [10.1007/s11011-015-9707-8]
Severe early onset ethylmalonic encephalopathy with west syndrome
PAPETTI, LAURAPrimo
;GARONE, GIACOMOSecondo
;SCHETTINI, LAURA;GIORDANO, Carla;NICITA, Francesco;PAPOFF, PAOLA;LEUZZI, VincenzoPenultimo
;SPALICE, ALBERTO
Ultimo
2015
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.File | Dimensione | Formato | |
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