Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging
J Rahesh, R Anand, V Mendiola… - Baylor University Medical …, 2022 - Taylor & Francis
J Rahesh, R Anand, V Mendiola, R Jacob
Baylor University Medical Center Proceedings, 2022•Taylor & FrancisPyruvate 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 …
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 …
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.
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