Ontology highlight
ABSTRACT:
SUBMITTER: Lopes T
PROVIDER: S-EPMC6322804 | biostudies-other | 2018 Oct-Dec
REPOSITORIES: biostudies-other
Lopes Tânia T Coelho Margarida M Bordalo Diana D Bandeira António A Bandeira Anabela A Vilarinho Laura L Vilarinho Laura L Fonseca Paula P Carvalho Sónia S Martins Cecília C Oliveira José Gonçalves JG
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 20181029 4
<h4>Objective</h4>Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease.<h4>Case description</h4>A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor dev ...[more]