DHDDS-related epilepsy with hippocampal atrophy: a case report.

Autor: de Oliveira Franco Á; Service 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.; Postgraduate Research Program in Biological Sciences, Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. alvaro.doliveirafranco@gmail.com., Morillos MB; Service 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.; Postgraduate Research Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Bravo Leite MT; Service 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., Bianchin MM; Service 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.; Postgraduate Research Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; CETER, Service of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Torres CM; Service 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.; Postgraduate Research Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; CETER, Service of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Jazyk: angličtina
Zdroj: Neurogenetics [Neurogenetics] 2024 Nov 22; Vol. 26 (1), pp. 3. Date of Electronic Publication: 2024 Nov 22.
DOI: 10.1007/s10048-024-00780-w
Abstrakt: Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.Arg205Gln) in a 45-year-old Brazilian patient presenting with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay. This is the first case to associate a DHDDS variant with hippocampal atrophy on neuroimaging. After adjustments in anticonvulsant therapy, seizure control was achieved, and the patient-who was previously unable to walk due to frequent falls attributed to myoclonic jerks-showed significant improvement in gait and mobility.
Competing Interests: Declarations. Ethical approval: This study was approved by the Research Ethics Committee of the Hospital de Clinicas de Porto Alegre (CAAE: 77401524.9.0000.5327). Informed consent for submitting this manuscript was obtained separately from the patient. Consent to publish: The participant/legal representative has consented to the submission of the case report to the journal. Competing interests: The authors declare no competing interests.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
Externí odkaz: