Related Experiment Video

Updated: Oct 1, 2025

Use of In vivo Imaging to Monitor the Progression of Experimental Mouse Cytomegalovirus Infection in Neonates
05:53

Use of In vivo Imaging to Monitor the Progression of Experimental Mouse Cytomegalovirus Infection in Neonates

Published on: July 6, 2013

15.1K

Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging

Jasmin Rahesh1, Rohan Anand1, Victor Mendiola1

  • 1School of Medicine, Texas Tech University Health Sciences Center, Amarillo, Texas.

Proceedings (Baylor University. Medical Center)
|March 9, 2022
PubMed

Insights

Pyruvate dehydrogenase complex deficiency (PDCD) is a rare genetic disorder. Early diagnosis via genetic testing is crucial for dietary treatment and preventing brain damage.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pyruvate dehydrogenase complex deficiency (PDCD) is a rare, often underdiagnosed metabolic disorder.
  • PDCD can manifest with severe clinical symptoms, detectable even before birth.

Observation:

  • A newborn presented with in utero brain abnormalities on ultrasound.
  • These abnormalities initially mimicked cytomegalovirus infection.

Findings:

  • Genetic testing confirmed the diagnosis of pyruvate dehydrogenase complex deficiency.
  • This highlights the importance of genetic analysis in diagnosing rare metabolic disorders.

Implications:

  • Early detection and diagnosis of PDCD are critical for patient survival.
  • Timely dietary intervention can prevent irreversible neurological and structural brain damage.

Keywords:
Cytomegalovirusgenetic metabolic diseasepyruvate dehydrogenase complex deficiency

More Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

37.1K
qPCR Is a Sensitive and Rapid Method for Detection of Cytomegaloviral DNA in Formalin-fixed, Paraffin-embedded Biopsy Tissue08:08

qPCR Is a Sensitive and Rapid Method for Detection of Cytomegaloviral DNA in Formalin-fixed, Paraffin-embedded Biopsy Tissue

Published on: July 9, 2014

15.9K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
383
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
292