Leigh syndrome in an infant: autopsy and histopathology findings

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...

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Autores principales:	Arushi Gahlot Saini, Debjyoti Chatterjee, Chandana Bhagwat, Sameer Vyas, Savita Verma Attri
Formato:	article
Lenguaje:	EN
Publicado:	University of São Paulo 2021
Materias:	Basal Ganglia Brain Damage Chronic Leigh Disease Mitochondrial Diseases Medicine R Internal medicine RC31-1245
Acceso en línea:	https://doaj.org/article/4ac878d0d8df4c59ac2e5087a9fd4ca4
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spelling	oai:doaj.org-article:4ac878d0d8df4c59ac2e5087a9fd4ca42021-11-19T04:03:40ZLeigh syndrome in an infant: autopsy and histopathology findings2236-1960https://doaj.org/article/4ac878d0d8df4c59ac2e5087a9fd4ca42021-11-01T00:00:00Zhttps://www.revistas.usp.br/autopsy/article/view/192669https://doaj.org/toc/2236-1960 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. Arushi Gahlot SainiDebjyoti Chatterjee Chandana BhagwatSameer VyasSavita Verma AttriUniversity of São PauloarticleBasal GangliaBrain DamageChronicLeigh DiseaseMitochondrial DiseasesMedicineRInternal medicineRC31-1245ENAutopsy and Case Reports, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Basal Ganglia Brain Damage Chronic Leigh Disease Mitochondrial Diseases Medicine R Internal medicine RC31-1245
spellingShingle	Basal Ganglia Brain Damage Chronic Leigh Disease Mitochondrial Diseases Medicine R Internal medicine RC31-1245 Arushi Gahlot Saini Debjyoti Chatterjee Chandana Bhagwat Sameer Vyas Savita Verma Attri Leigh syndrome in an infant: autopsy and histopathology findings
description	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.
format	article
author	Arushi Gahlot Saini Debjyoti Chatterjee Chandana Bhagwat Sameer Vyas Savita Verma Attri
author_facet	Arushi Gahlot Saini Debjyoti Chatterjee Chandana Bhagwat Sameer Vyas Savita Verma Attri
author_sort	Arushi Gahlot Saini
title	Leigh syndrome in an infant: autopsy and histopathology findings
title_short	Leigh syndrome in an infant: autopsy and histopathology findings
title_full	Leigh syndrome in an infant: autopsy and histopathology findings
title_fullStr	Leigh syndrome in an infant: autopsy and histopathology findings
title_full_unstemmed	Leigh syndrome in an infant: autopsy and histopathology findings
title_sort	leigh syndrome in an infant: autopsy and histopathology findings
publisher	University of São Paulo
publishDate	2021
url	https://doaj.org/article/4ac878d0d8df4c59ac2e5087a9fd4ca4
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Leigh syndrome in an infant: autopsy and histopathology findings

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