18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

Patient, 12 years old, admitted complaining of sialorrhea, dysarthria, dysphagia and rigidity of movements that started about a year ago, when it had progressively worsened four months ago and more markedly a week ago, when the family sought the emergency for guidance from the primary attention. During hospitalization, computed tomography of the skull was performed, which showed hypodensity of caudate nuclei bilaterally and symmetrically arranged. Without reports of fever, he denies any history of infectious symptoms prior to the onset of the condition, trauma or epileptic phenomena. Consanguineous parents (first cousins). Laboratory tests were within normal limits, except for a slight increase in transaminases, a twofold increase in aspartate aminotransferase and a one and a half times increase in alanine aminotransferase. Bafore the diagnostic hypothesis of Leigh-like Syndrome, genetic panel was requested for treatable diseases, showing homozygosity in the ATP7B gene, corresponding to Wilson's disease (WD). Subsequently submitted to ophthalmological examination with a slit lamp and showing Keiser-Fleisher rings.


Leigh syndrome is a neurodegenerative disorder characterized by almost identical brain changes,focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity.
WD is caused by a mutation in the ATP7B gene and its neurological manifestations are variable. The central nervous system is affected by a motor condition with movement disorders, due to lesions in the basal ganglia or cerebellar connections: dystonia, tremor, rigidity, bradykinesia, chorea and ataxia are present. Cognitive changes are common. Treatment is with copper binders and liver transplantation is reserved for patients with severe liver failure.
The patient in the reported case was not a classic case: he had no significant liver lesions. In this manner, genetic screening became important to help in discriminating among the differential diagnoses.

Comentários finais

In view of the treatability of WD in relation to the differential diagnoses, it is necessary to emphasize the importance of genetic screening of patients for early elucidation, treatment and better prognosis of patients.

Referências (se houver)

Kerkar, Nanda, and Ajay Rana. "Wilson Disease in Children." Clinics in Liver Disease 26.3 (2022): 473-488.

Fernando, Meranthi, et al. "Wilson disease in children and adolescents." Archives of Disease in Childhood 105.5 (2020): 499-505.

Ribeiro, Beatriz Silva Vilela. "Clinical, neuroradiological, and genetic characterization of patients with Leigh syndrome." (2015).

Finsterer, Josef. "Leigh and Leigh-like syndrome in children and adults." Pediatric neurology 39.4 (2008): 223-235.

Palavras Chave

Wilson’s disease
Leigh and Leigh-like syndrome

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

There is no conflicts of interest


Manifestações neurológicas das doenças sistêmicas


Hospital Universitário Antônio Pedro / Universidade Federal Fluminense - Rio de Janeiro - Brasil, Instituto Fernandes Figueira / Fiocruz - Rio de Janeiro - Brasil, Universidade Federal do Rio de Janeiro - Rio de Janeiro - Brasil


Tainá Maia Cardoso , Sarah Falcão Brasileiro Henriques