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
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Abbreviations
- EE:
-
Ethylmalonic encephalopathy
- EMA:
-
Ethylmalonic acid
- H2S:
-
Hydrogen sulfide
- CsGN:
-
Crescentic glomerulonephritis
- NAC:
-
N-acetylcysteine
References
Dewan D, Gulati S, Sharma RK, Prasad N, Jain M, Gupta A, Kumar A (2008) Clinical spectrum and outcome of crescentic glomerulonephritis in children in developing countries. Pediatr Nephrol 23:389–394
Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AEM, Buzzi D, Tiranti V (2006) A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol Genet Metab 89:395–397
Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, D’Amati G, Zeviani M (2011) Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis. doi:10.1007/s10545-0119408-3
Hack A, Klein K, Wöβner R, Kress W, Straβburg HM (2008) A severe case of encephalopathy with ethylmalonic acidurias and generalized vasculopathy. Neuropediatrics 39
Miller MN, Baumal R, Poucell S, Steele BT (1984) Incidence and prognostic importance of glomerular crescents in renal disease of childhood. Am J Nephrol 4:244–247
Pigeon N, Campeau P, Cyr D, Lemieux B, Clarke JTR (2009) Clinical heterogeneity in ethylmalonic encephalopathy. J Child Neurol 24:991–996
Tiranti V, D’Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva M-T, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74:239–252
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberele L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M (2006) ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet 43:340–346
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fgiolari G, Rimoldi M, Zeviani M (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15:200–205
Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M (2010) Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med 16:869–871
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Dweikat, I., Naser, E., Damsah, N. et al. Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. Metab Brain Dis 27, 613–616 (2012). https://doi.org/10.1007/s11011-012-9313-y
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DOI: https://doi.org/10.1007/s11011-012-9313-y