Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.

Metabolic Brain Disease
Imad DweikatIzzeddin Bakri

Abstract

Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis. Nephrotic syndrome has been described in an infant with EE but the renal histology findings were not described in previous reports. We report a Palestinian girl with EE who presented with chronic diarrhea, encephalopathy, petechial rash and acrocyanosis. Subsequently, she developed progressive deterioration of renal function caused by rapidly progressive glomerulonephritis resulting in death within few days. This is, to our knowledge, the first reported occurrence of rapidly progressive glomerulonephritis in a child with ethylmalonic encephalopathy. Its presence is a serious complication associated with poor prognosis and may be explained by the diffuse vascular damage.

References

Jan 1, 1984·American Journal of Nephrology·M N MillerB T Steele
Jan 21, 2004·American Journal of Human Genetics·Valeria TirantiMassimo Zeviani
Sep 27, 2005·Journal of Medical Genetics·V TirantiM Zeviani
Jul 11, 2006·Molecular Genetics and Metabolism·Maja Di RoccoValeria Tiranti
Dec 12, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Deepak DewanAlok Kumar
Mar 18, 2009·Journal of Child Neurology·Nicole PigeonJoe T R Clarke

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Citations

Jul 22, 2015·Metabolic Brain Disease·Laura PapettiAlberto Spalice
Dec 7, 2013·American Journal of Physiology. Renal Physiology·Ruochen CheAihua Zhang
Nov 11, 2016·Metabolic Brain Disease·Mustafa KılıçDeniz Yüksel
Dec 12, 2020·KI Reports·Anne M SchijvensMichiel F Schreuder

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