SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease

A two-month-old boy presented with breastfeeding difficulty, hypoactivity, hyporeactivity, and seizures. Neuroimaging showed multiple areas of cytotoxic and vasogenic edema in the midbrain, cerebellum, basal ganglia, and brain hemispheres, with lactate peak. Exome sequencing revealed a mutation in t...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2023-11, Vol.81 (11), p.1020-1021
Main Authors: Freitas, Leonardo Furtado, Miranda, Eduardo Carvalho, Noce, Thelma Ribeiro, Amaro, Aline Pimentel, Duarte, Márcio Luís
Format: Article
Language:English
Subjects:
Basal ganglia
Biotin
Breast feeding
Cerebellum
Cerebral hemispheres
Cytotoxicity
Edema
Genetic counseling
Images in Neurology
Leigh-like syndrome
Mesencephalon
Mutation
Neuroimaging
NEUROSCIENCES
Phenotypes
Point mutation
PSYCHIATRY
Seizures
Thiamine
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Summary:A two-month-old boy presented with breastfeeding difficulty, hypoactivity, hyporeactivity, and seizures. Neuroimaging showed multiple areas of cytotoxic and vasogenic edema in the midbrain, cerebellum, basal ganglia, and brain hemispheres, with lactate peak. Exome sequencing revealed a mutation in the SCL19A3 gene, resulting in thiamine metabolism dysfunction syndrome-2. This syndrome can present as early as infantile Leigh-like syndrome and is potentially treatable. Despite thiamine and biotin replacement, the patient's prognosis remained poor. Genetic counseling is recommended for the families due to the poor outcome.
ISSN:0004-282X
1678-4227
1678-4227
DOI:10.1055/s-0043-1772606