Related Experiment Video

Updated: Aug 25, 2026

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice
09:29

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on: June 11, 2020

Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

M A Kurian1, E S O'Mahoney, P Rustin

  • 1Department of Paediatric Neurology, The Children's University Hospital, Temple Street, Dublin, Ireland. mary.king@tsch.ie

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|March 17, 2004
PubMed

Insights

This study reports a rare case of severe limb malformations in an infant due to a tissue-specific complex IV respiratory chain defect. This finding highlights a critical link between mitochondrial dysfunction and congenital anomalies.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Neonatal seizures and developmental delay can stem from various underlying genetic and metabolic disorders.
  • Consanguinity increases the risk of recessive genetic conditions presenting with severe phenotypes.

Observation:

  • An infant presented with intractable neonatal seizures, dysmorphic limb anomalies (absent nails/phalanges), hepatomegaly, hypotonia, and developmental delay.
  • Ophthalmological findings included 'salt and pepper' retinopathy.
  • Biochemical analysis revealed increased tricarboxylic acid metabolites and reduced urinary phosphate reabsorption.

Findings:

  • Muscle histology showed Type I fibre atrophy.
  • Enzymology confirmed a tissue-specific cytochrome c oxidase (Complex IV) deficiency in liver tissue.
  • This represents a rare association between limb malformations and a specific mitochondrial respiratory chain defect.

Implications:

  • This case underscores the potential for mitochondrial respiratory chain defects, specifically Complex IV deficiency, to cause severe congenital limb malformations.
  • Further research into the genetic and molecular mechanisms linking mitochondrial dysfunction to developmental anomalies is warranted.
  • Early diagnosis and understanding of such rare conditions are crucial for genetic counseling and potential therapeutic strategies.

More Related Videos

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy09:57

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Published on: September 20, 2024

Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...