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Leigh syndrome in an infant: autopsy and histopathology findings
Saini, Arushi Gahlot; Chatterjee, Debjyoti; Bhagwat, Chandana; Vyas, Sameer; Attri, Savita Verma.
  • Saini, Arushi Gahlot; Postgraduate Institute of Medical Education and Research. Department of Pediatrics. Chandigarh. IN
  • Chatterjee, Debjyoti; Postgraduate Institute of Medical Education and Research. Department of Histopathology. Chandigarh. IN
  • Bhagwat, Chandana; Postgraduate Institute of Medical Education and Research. Department of Pediatrics. Chandigarh. IN
  • Vyas, Sameer; Postgraduate Institute of Medical Education and Research. Department of Radiodiagnosis and Imaging. Chandigarh. IN
  • Attri, Savita Verma; Postgraduate Institute of Medical Education and Research. Department of Pediatrics. Chandigarh. IN
Autops. Case Rep ; 11: e2021334, 2021. tab, graf
Article in English | LILACS | ID: biblio-1345352
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.
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Full text: Available Index: LILACS (Americas) Main subject: Leigh Disease Type of study: Diagnostic study Limits: Humans / Infant / Male Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2021 Type: Article Affiliation country: India Institution/Affiliation country: Postgraduate Institute of Medical Education and Research/IN

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Full text: Available Index: LILACS (Americas) Main subject: Leigh Disease Type of study: Diagnostic study Limits: Humans / Infant / Male Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2021 Type: Article Affiliation country: India Institution/Affiliation country: Postgraduate Institute of Medical Education and Research/IN