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Your search keyword '"Morillos, Matheus Bernardon"' showing total 9 results
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9 results on '"Morillos, Matheus Bernardon"'

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

Author

de Oliveira Franco, Álvaro, Morillos, Matheus Bernardon, Bravo Leite, Martim Tobias, Bianchin, Marino Muxfeldt, and Torres, Carolina Machado

Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2025
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9. SEVERE CHOLESTATIC SYNDROME SECONDARY TO GRAVES' DISEASE.

Author

da Silva, Rodrigo Piltcher, Junior, Sabino, Morillos, Matheus Bernardon, Miclos, Isabella Roque, Weinert, Letícia Schwerz, and Marques, Rogério Torres

Subjects
SYNDROMES, DISEASES, PATHOLOGICAL physiology, HYPERTHYROIDISM, DIAGNOSIS
Abstract

This paper reports a case of severe cholestasis as an atypical manifestation of Graves' disease. It discusses the pathophysiology, the diagnosis and the investigation of this complication of hyperthyroidism as well as the impact of this finding on the therapeutic options for managing the disease. [ABSTRACT FROM AUTHOR]

Published
2019
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