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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...

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Main Authors: Pavlou, Evangelos (Author) , Augoustides-Savvopoulou, Persephone (Author) , Gregersen, Niels (Author) , Haas, Dorothea (Author) , Gkampeta, Anastasia (Author) , Athanassiadou-Piperopoulou, Fani (Author)
Format: Article (Journal)
Language:English
Published: 2013
In: Journal of child neurology
Year: 2013, Volume: 28, Issue: 5, Pages: 668-671
ISSN:1708-8283
DOI:10.1177/0883073812449070
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1177/0883073812449070
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Author Notes:Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou
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Summary: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.
Item Description:First published July 17, 2012
Gesehen am 03.01.2022
Physical Description:Online Resource
ISSN:1708-8283
DOI:10.1177/0883073812449070

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