Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging.
Publication/Presentation Date
1-1-2022
Abstract
Pyruvate dehydrogenase complex deficiency is a rare and underdiagnosed disease. It can present with clinical manifestations as early as in utero. Both genetic and metabolic testing are available to determine the presence of the disease. Key to survival is early detection and diagnosis, with dietary treatment to prevent further neurological and structural damage to the brain. We present a newborn who presented with ultrasound brain abnormalities in utero that mimicked cytomegalovirus but was diagnosed with pyruvate dehydrogenase complex deficiency after genetic testing.
Volume
35
Issue
2
First Page
232
Last Page
233
ISSN
0899-8280
Published In/Presented At
Rahesh, J., Anand, R., Mendiola, V., & Jacob, R. (2021). Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging. Proceedings (Baylor University. Medical Center), 35(2), 232–233. https://doi.org/10.1080/08998280.2021.1999192
Disciplines
Diagnosis | Medicine and Health Sciences | Other Analytical, Diagnostic and Therapeutic Techniques and Equipment | Radiology
PubMedID
35261462
Department(s)
Department of Radiology and Diagnostic Medical Imaging
Document Type
Article