Browsing by Author "Rocha, JF"
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- Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiencyPublication . Soares-Fernandes, JP; Magalhães, Z; Rocha, JF; Barkovich, AJ
- Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findingsPublication . Soares-Fernandes, JP; Teixeira-Gomes, R; Cruz, R; Ribeiro, M; Magalhães, Z; Rocha, JF; Leijser, LMPyruvate dehydrogenase (PDH) deficiency is one of the most common causes of congenital lactic acidosis. Correlations between the genetic defect and neuroimaging findings are lacking. We present conventional and diffusion-weighted MRI findings in a 7-day-old male neonate with PDH deficiency due to a mosaicism for the R302H mutation in the PDHA1 gene. Corpus callosum dysgenesis, widespread increased diffusion in the white matter, and bilateral subependymal cysts were the main features. Although confirmation of PDH deficiency depends on specialized biochemical analyses, neonatal MRI plays a role in evaluating the pattern and extent of brain damage, and potentially in early diagnosis and clinical decision making.
- Neurological picture. The sonographic pitfall of carotid collateralisation via the vasa vasorumPublication . Soares-Fernandes, JP; Ribeiro, M; Magalhães, Z; Rocha, JF
- Simultaneous supratentorial and brainstem abscesses due to Listeria monocytogenes.Publication . Soares-Fernandes, JP; Beleza, P; Cerqueira, JJ; Ribeiro, M; Maré, R; Lourenço, E; Rocha, JFMultiple supratentorial abscesses caused by Listeria monocytogenes are rare. We report the simultaneous occurrence of multiple supratentorial and brainstem abscesses due to Listeria, in a patient under corticotherapy for an exacerbation of ulcerative colitis. MR imaging features before and after successful conservative treatments are depicted. In immunocompromised patients with supratentorial listerial abscesses, the coexistence of brainstem abscedation is exceptional. Despite high mortality associated with listerial abscesses, this case illustrates the possibility of a good clinical outcome, if the appropriate antibiotic regimen is instituted and the immunosuppressant agent is discontinued.
- The sonographic pitfall of carotid collateralisation via the vasa vasorumPublication . Soares-Fernandes, JP; Ribeiro, M; Magalhães, Z; Rocha, JF