Abstract
ABSTRACTLeigh 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.
Highlights
Leigh syndrome is an inherited neurometabolic and neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age
In today’s era of genomics, the histopathological findings of this distinct disorder are rarely described.[3,4]. 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 presented with subacute neuroregression with progressive encephalopathy, dystonia, seizures, and respiratory failure that were possibly triggered by trivial head trauma or an unnoticed infection
Summary
Leigh syndrome is an inherited neurometabolic and neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. Laboratory, and imaging findings, a neurometabolic disorder such as Leigh syndrome (energy deficiency disorder), or organic acidemia (intoxication disorder), or biotinthiamine-responsive basal ganglia disease were considered. He was started on multivitamin and cofactor supplements, including high-dose biotin (10 mg/kg/d) and thiamine (300 mg/day). Genetic studies could not be done due to the non-availability of these tests at our center His condition worsened with hypotensive shock, transaminitis, persisting lactic acidosis, and multi-organ dysfunction syndrome. He succumbed to his illness on day four of hospitalization, and an autopsy was conducted with parental consent
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