Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.

Palavras-chave

Síndrome Hemolítico-Urémico Atípico Erros Inatos do Metabolismo dos Aminoácidos Ácido Metilmalónico

URI

http://hdl.handle.net/10400.4/2181

Citação

CEN Case Rep. 2018 May;7(1):73-76.

DOI

10.1007/s13730-017-0298-6

Coleções

HEM- Artigos

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