Chronic diarrhea

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Ethylmalonic Encephalopathy Associated With Crescentic Glomerulonephritis

Journal Title, Volume, Page: 
Metabolic Brain Disease, 05/2012; DOI: 10.1007/s11011-012-9313-y
Year of Publication: 
2012
Authors: 
Imad Dweikat
Makassed Hospital, Al-Quds University, Jerusalem
Current Affiliation: 
Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestin
Enas Naser
Makassed Hospital, Al-Quds University, Jerusalem
Nadera Damsah
Makassed Hospital, Al-Quds University, Jerusalem
Bassam Abu Libdeh
Makassed Hospital, Al-Quds University, Jerusalem
Izzeddin Bakri
Makassed Hospital, Al-Quds University, Jerusalem
Preferred Abstract (Original): 

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.

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