Leigh syndrome in an infant: autopsy and histopathology findings
Autops. Case Rep
; 11: e2021334, 2021. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-1345352
Biblioteca responsável:
BR26.7
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
/
ODS3 - Meta 3.2 Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
Problema de saúde:
Meta 3.2: Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
/
Doenças do Sistema Endócrino
/
Cuidados de Saúde Neonatal
Base de dados:
LILACS
Assunto principal:
Doença de Leigh
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Autops. Case Rep
Assunto da revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Índia
Instituição/País de afiliação:
Postgraduate Institute of Medical Education and Research/IN