An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder

• Verfasst von: Pavlou, Evangelos [VerfasserIn]
• Verfasst von: Augoustides-Savvopoulou, Persephone [VerfasserIn]
• Verfasst von: Gregersen, Niels [VerfasserIn]
• Verfasst von: Haas, Dorothea [VerfasserIn]
• Verfasst von: Gkampeta, Anastasia [VerfasserIn]
• Verfasst von: Athanassiadou-Piperopoulou, Fani [VerfasserIn]
• Titel: An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder
• Verf.angabe: Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou
• Jahr: 2013
• Umfang: 4 S.
• Fussnoten: First published July 17, 2012 ; Gesehen am 03.01.2022
• Titel Quelle: Enthalten in: Journal of child neurology
• Ort Quelle: Thousand Oaks, Calif. : Sage, 1986
• Jahr Quelle: 2013
• Band/Heft Quelle: 28(2013), 5, Seite 668-671
• ISSN Quelle: 1708-8283
• DOI: doi:10.1177/0883073812449070
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: ethylmalonic encephalopathy 1 gene
• Sach-SW: hypotonia
• Sach-SW: leukocytosis
• Sach-SW: thrombocytosis
• K10plus-PPN: 1784461644

Abstract

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.