9 documents found, page 1 of 1
Pelizaeus-Merzbacher Disease: A Rare Cause of Nystagmus and Developmental Delay
Alba, Diana; Araújo, André; Geraldo, Ana Filipa; Rangel, Maria Adriana; Vila Real, Marta; Santos, FátimaPelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy of the central nervous system characterized by a developmental arrest in myelin formation. It is classified into five phenotypes, with different severity. The most common clinical features are nystagmus, spasticity, tremor, ataxia, and hypotonia. A 11-month-old child was referred to the Neuropediatric Unit due to nystagmus, hypotonia, and developm...
Neuroimaging Safety in Children
Proença, Filipa; Freitas, Joana; Geraldo, Ana Filipa; Reimão, SofiaPaediatric neuroimaging is distinct from adult imaging, warranting dedicated approaches that take into account the singularities of this population in the selection of the appropriate imaging techniques for each phase of the normal development. The impact of ionising radiation exposure or contrast media usage need to be taken into account when planning or performing paediatric imaging, with risk versus benefit ...
Natural history of familial cerebral cavernous malformation syndrome in childre...
Geraldo, Ana Filipa; Alves, Cesar Augusto P. F.; Luis, Aysha; Tortora, Domenico; Guimarães, Joana; Abreu, Daisy; Reimão, Sofia; Pavanello, MarcoPurpose: There is limited data concerning neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. Our aim was to study the natural history of pediatric FCCM, with an emphasis on symptomatic hemorrhagic events and associated clinical and imaging risk factors. Methods: We retrospectively reviewed all children diagnosed with FCCM in four tertiary pediatric...
Spinal involvement in pediatric familial cavernous malformation syndrome
Geraldo, Ana Filipa; Luis, Aysha; Alves, Cesar Augusto P. F.; Tortora, Domenico; Guimarães, Joana; Reimão, Sofia; Pavanello, Marco; de Marco, PatriziaPurpose: The aim of the study was to assess the prevalence and characteristics of spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) in a pediatric familial cerebral cavernous malformation (FCCM) cohort and evaluate clinico-radiological differences between children with (SCCM +) and without (SCCM-) SCCM. Methods: All patients with a pediatric diagnosis of FCCM evalu...
Beyond fractional anisotropy in amyotrophic lateral sclerosis : the value of me...
Geraldo, Ana Filipa; Pereira, João; Nunes, Pedro; Reimão, Sofia; Sousa, Rita; Castelo-Branco, Miguel; Pinto, Susana; Campos, Jorge GuedesPurpose: This paper aims to analyze the contribution of mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) in the detection of microstructural abnormalities in amyotrophic lateral sclerosis (ALS) and to evaluate the degree of agreement between structural and functional changes through concomitant diffusion tensor imaging (DTI), transcranial magnetic stimulation (TMS), and clinical assess...
Delayed leukoencephalopathy after acute carbon monoxide intoxication
Geraldo, Ana Filipa; Silva, Cristiana; Neutel, Dulce; Lucas Neto, Lia; Albuquerque, LuísaDelayed leukoencephalopathy is an uncommon complication of hypoxicischemic events of different etiologies, including carbon monoxide intoxication. We present a case of a 40-year-old male patient who was admitted with rapidly progressive neurocognitive and behavioral deficits. There was a history of accidental carbon monoxide intoxication one month before, presenting with loss of consciousness and short hospital...
Acute Cerebellitis in Children: Regarding Different Etiologies
Mendes Dos Santos, Carolina; Sá, Graça; Geraldo, Ana Filipa; Tavares, Joana B; Neto, Lia; Campos, Jorge GAcute cerebellitis is usually infectious, post-infectious or post-vaccination. Rarer causes include toxic ones. The clinical presentation is usually benign, however, severe cases with brainstem compression may present as coma. Regarding three pediatric clinical cases, the authors make a brief review on this entity, with particular emphasis on its causes and imaging findings. Case Reports: Three cases of pediatr...
Benign Fibro-osseous Lesions of the Craniofacial Complex with Aneurysmal Bone C...
Geraldo, Ana Filipa; Mendes dos Santos, Carolina; Tavares, Joana; Fernandes Sousa, Rita; Campos, Alexandre; Farias, João Paulo; Pimentel, JoséAneurysmal bone cyst are controversial osteolytic benign expansive lesions which occur more frequently in the metaphysis of long bones and spine. They are classified as primary or secondary lesions depending on the presence or absence of an associated bone pathology. The engraftment of aneurysmal bone cyst onto benign fibro-osseous lesions is established. However, in the craniofacial complex this combined lesio...
Lesões fibro-ósseas craniofaciais benignas com quistos ósseos aneurismáticos as...
Geraldo, Ana Filipa; Mendes dos Santos, Carolina; Tavares, Joana; Fernandes Sousa, Rita; Rainha Campos, Alexandre; Farias, João Paulo; Pimentel, JoséAneurysmal bone cyst are controversial osteolytic benign expansive lesions which occur more frequently in the metaphysis of long bones and spine. They are classified as primary or secondary lesions depending on the presence or absence of an associated bone pathology. The engraftment of aneurysmal bone cyst onto benign fibro-osseous lesions is established. However, in the craniofacial complex this combined lesio...