Ethylmalonic encephalopathy associated with respiratory failure
نویسندگان
چکیده
منابع مشابه
Ethylmalonic encephalopathy and SCAD deficiency
Ethylmalonic encephalopathy is a devastating, infantile, autosomal recessive, metabolic disorder caused by defects in the mitochondrial sulfur dioxygenase, ETHE1, and characterized by ethylmalonic and methylsuccinic aciduria, lactic acidemia associated with developmental delay, orthostatic acrocyanosis, recurrent petechiae, chronic diarrhea, and abnormalities on brain MRI. The authors also repo...
متن کاملNeurological and Vascular Manifestations of Ethylmalonic Encephalopathy
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarniti...
متن کاملEthylmalonic encephalopathy. Another patient from Kuwait.
We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were c...
متن کاملThe role of methionine in ethylmalonic encephalopathy with petechiae.
BACKGROUND Among patients with ethylmalonic aciduria, a subgroup with encephalopathy, petechial skin lesions, and often death in infancy is distinct from those with short-chain acyl-coenzyme A dehydrogenase deficiency or multiple acyl-coenzyme A dehydrogenase deficiency. The nature of the molecular defect in this subgroup is unknown, and the source of the ethylmalonic acid has been unclear. O...
متن کاملPapilloedema associated with respiratory failure.
A case of papilloedema secondary to respiratory failure is reported which caused considerable diagnostic difficulty and led to extensive neurological investigation. Neurological complaints of headache and visual impairment overshadowed respiratory symptoms and were associated with gross haemorrhagic papilloedema. The case is compared with previous reports and the pathogenesis of papilloedema in...
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ژورنال
عنوان ژورنال: Eastern Journal Of Medicine
سال: 2016
ISSN: 1301-0883
DOI: 10.5505/ejm.2016.69885