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DHDDS-related epilepsy with hippocampal atrophy: a case report
Álvaro de Oliveira Franco1,2, Matheus Bernardon Morillos3,4, Martim Tobias Bravo Leite3
1Service of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil. alvaro.doliveirafranco@gmail.com.
Neurogenetics
|November 22, 2024
Summary
A novel DHDDS gene variant caused a rare neurodevelopmental disorder with seizures and movement issues. Treatment improved the patient's mobility and seizure control.
Area of Science:
- Genetics
- Neuroscience
- Rare Diseases
Background:
- Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype linked to the DHDDS gene.
- Monoallelic mutations in DHDDS are associated with this condition.
Observation:
- A novel DHDDS variant (c.614G>A, p.Arg205Gln) was identified in a 45-year-old Brazilian patient with DEDSM.
- The patient presented with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay.
- Neuroimaging revealed hippocampal atrophy, a previously unreported association with DHDDS variants.
Findings:
- The identified DHDDS variant is causally linked to the patient's complex neurological presentation.
- Successful seizure control was achieved through adjustments in anticonvulsant therapy.
Implications:
- This case expands the known phenotypic spectrum of DHDDS-related disorders.
- Highlights the potential for targeted therapies to improve outcomes in patients with DEDSM.
- Suggests hippocampal atrophy as a potential neuroimaging biomarker for DHDDS variants.
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