An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.
A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level.
2nd Paediatric Department, Aristotle University of Thessaloniki, AHEPA General Hospital, Thessaloniki, Greece. eepav@yahoo.gr
Evangelos
E
Pavlou
Persephone
P
Augoustides-Savvopoulou
Niels
N
Gregersen
Dorothea
D
Haas
Anastasia
A
Gkampeta
Fani
F
Athanassiadou-Piperopoulou
D000483:Alleles; D001284:Atrophy; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007090:Image Interpretation, Computer-Assisted; D007223:Infant; D007964:Leukocytosis / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008314:Malonates / Q000652:urine; D024101:Mitochondrial Proteins / Q000235:genetics; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics; D011693:Purpura / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D013922:Thrombocytosis / Q000209:etiology*
C483228:ETHE1 protein, human; D008314:Malonates; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins; C038080:ethylmalonic acid