Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients.
Metabolism Unit, Sami Ulus Children Hospital, Babur cad. No: 44 Altındağ, 06080, Ankara, Turkey. kilickorkmaz@yahoo.com.tr.
Mustafa
M
Kılıç
Pediatric Neurology Unit, Sami Ulus Children Hospital, Ankara, Turkey.
Özge
Ö
Dedeoğlu
Deparment of Radiology, Hacettepe University, Ankara, Turkey.
Rahşan
R
Göçmen
Pediatric Intensive Care Unit, Sami Ulus Children Hospital, Ankara, Turkey.
Selman
S
Kesici
Pediatric Neurology Unit, Sami Ulus Children Hospital, Ankara, Turkey.
Deniz
D
Yüksel
D000111:Acetylcysteine / Q000008:administration & dosage / Q000627:therapeutic use*; D020739:Brain Diseases, Metabolic, Inborn / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000378:metabolism; D003128:Coma / Q000188:drug therapy / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D008279:Magnetic Resonance Imaging; D008314:Malonates; D024101:Mitochondrial Proteins / Q000235:genetics; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics; D011693:Purpura / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000378:metabolism
C483228:ETHE1 protein, human; D008314:Malonates; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins; D000111:Acetylcysteine
Acrocyanosis; Developmental delay; ETHE1; Ethylmalonic encephalopathy; Meningococcemia; Recurrent petechia