Related Experiment Video
Updated: Oct 12, 2025
Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
Published on: October 28, 2022
Leigh syndrome in an infant: autopsy and histopathology findings
Arushi Gahlot Saini1, Debjyoti Chatterjee2, Chandana Bhagwat1
1Postgraduate Institute of Medical Education and Research, Department of Pediatrics, Chandigarh, India.
Insights
Leigh syndrome, an inherited infantile neurodegenerative disorder, presents with neurological decline and characteristic brain lesions. This case highlights its diagnostic features in infants with subacute neuroregression and metabolic abnormalities.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Leigh syndrome is an inherited neurodegenerative disorder affecting infants, typically between 3-12 months.
- It presents with diverse neurological symptoms including developmental delay, seizures, and respiratory dysfunction.
- The disorder is clinically and genetically heterogeneous.
Observation:
- Characteristic histopathological and radiological findings include focal, symmetrical necrotic lesions in the basal ganglia and brainstem.
- A case study details these unique autopsy and radiology findings in an infant with subacute neurological illness.
- The infant presented with neuroregression, dystonia, seizures, and metabolic acidosis.
Findings:
- The case confirms the characteristic histopathological signature of Leigh syndrome.
- Elevated lactates in blood, brain, and urine, alongside high anion gap metabolic acidosis, were noted.
- Bilateral basal ganglia involvement was a key radiological feature.
Implications:
- Leigh syndrome diagnosis should be considered in infants with subacute neuroregression, dystonia, and seizures.
- Metabolic investigations, including lactate levels, are crucial for diagnosis.
- Understanding these features aids in early and accurate diagnosis of this severe disorder.
Abstract:
Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.
