Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characteri... more Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.
A embolia pulmonar está associada a síndrome do desconforto respiratório agudo em pacientes com p... more A embolia pulmonar está associada a síndrome do desconforto respiratório agudo em pacientes com pneumonia por COVID-19, com relatos de possível associação a eventos tromboembólicos arteriais e venosos. Foram realizados exames de angiotomografia em pacientes internados com diagnóstico laboratorial de COVID-19, e suspeita clínica de TEP com exame laboratoriais D-dímero alterados. Dois pacientes tinham acometimento apenas de artérias segmentares, enquanto os outros dois tinham acometimento de artérias segmentares e subsegmentares. O COVID-19 pode levar a eventos tromboembólicos arteriais e venosos, consequente à resposta inflamatória sistêmica excessiva, atividade pró-coagulante devido à imobilização e hipóxia, ou coagulação intravascular disseminada.
Pacientes com doenca de Parkinson (DP) foram estudados quanto as alteracoes clinicas, o ciclo vig... more Pacientes com doenca de Parkinson (DP) foram estudados quanto as alteracoes clinicas, o ciclo vigilia sono, as alucinacoes visuais, as discinesias, os sintomas depressivos e a analise morfometrica voxel-a-voxel atraves de Ressonância Magnetica (RM). Os pacientes (N=100, 67% masculinos), com idade entre 45 e 80 anos foram avaliados quanto as alteracoes do sono (Parkinson’s Disease Sleep Scale, PDSS), a qualidade do sono (Pittsburgh Sleep Quality Index, PSQI), o grau de sonolencia diurna (Epworth Sleepiness Scale, ESS) e a gravidade dos sintomas (Unified Parkinson’s Disease Scale, UPDRS partes I, II, III e IV). Os sintomas depressivos foram avaliados atraves das escalas de Beck Depression Inventory (BDI) e Hospital Anxiety Depression (HAD) e a funcao cognitiva atraves do Mini Exame do Estado Mental (MEEM). A dose equivalente de levodopa (DEL) foi avaliada. Alucinacoes visuais (AVs) foram observadas em 28% dos pacientes e nao houve diferenca estatisticamente significativa quanto ao sex...
Parkinson&amp... more Parkinson's disease (PD) patients frequently present visual hallucinations (VHs) that have been associated with depression, old age, and cognitive impairment. Sleep abnormalities are also related to these factors. The aim of this study is to evaluate risk factors, particularly sleep alterations, associated with VHs in PD. This is a cross-sectional evaluation of consecutive patients from a Movement Disorder's clinics. Patients were clinically evaluated, and behavioral questionnaires were applied in a face-to-face interview. Among 100 PD patients (67% male, mean age = 65.0 ± 10.4), VHs were present in 28% of cases; individuals with VHs had worse sleep quality (Pittsburgh Sleep Questionnaire Index) and more severe sleep disturbances [Parkinson's Disease Sleep Scale (PDSS)]. Logistic regression analysis showed that vivid dreams and Unified Parkinson's Disease Rating Scale (UPDRS) I scores (i.e., mentation, behavior, and mood symptoms) are independently associated with VHs. Our data show that the presence of vivid dreams is associated with VHs in PD and reaffirm that VHs are linked to cognitive impairment. Investigating vivid dreams may help the identification of VHs in PD. Identifying vivid dreams can be hard considering that patients may fail to report symptoms for the fear of the stigma associated with psychosis and dementia.
Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracteriza... more Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de...
This study evaluates the diagnostic value of morphometric magnetic resonance imaging (MRI) in the... more This study evaluates the diagnostic value of morphometric magnetic resonance imaging (MRI) in the differential diagnosis among Parkinson's disease (PD), progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). We studied 21 PD cases, 11 MSA-c, 8 MSA-p and 20 PSP cases. Midbrain area (Ams), pons area (Apn), middle cerebellar peduncle (MCP) and superior cerebellar peduncle (SCP) were measured using MRI. Comparisons were made between PD, MSA-p, MSA-c and PSP. Apn, MCP and SCP morphometry dimensions presented differences among groups. Ams below 105 mm² and SCP smaller than 3 mmwere the most predictive measures of PSP (sensitivity 95.0 and 80.0%, respectively). For the group of MSA-c patients, Apn area below 315 mm² showed good specificity and positive predictive value (93.8% and 72.7%, respectively). In conclusion, dimensions and cut off values obtained from routine MRI can differentiate between PD, PSP and MSA-c with good sensitivity, specificity and accuracy.
ABSTRACT- Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder ca... more ABSTRACT- Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical tri-ad of congenital ichthyosis, mental re t a rdation and spastic di- or tetraplegia. Magnetic resonance imag-ing (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cere b r a l p roton MR spectroscopy (1H-MRS) reveals a characteristic abnormal lipid peak. We re p o rt three cases of SLS from different families with the typical clinical triad. The MRI and 1H-MRS findings are discussed. KEY WORDS: Sjögren-Larsson syndrome, magnetic resonance imaging, proton spectroscopy. S í n d rome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes RESUMO- A síndrome de Sjögren-Larsson (SJL) é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, re t a rdo mental e tetr...
The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterize... more The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation-Fortaleza-Ceará-Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the f...
The objective is to evaluate clinical characteristics and cerebral alterations in Parkinson’s dis... more The objective is to evaluate clinical characteristics and cerebral alterations in Parkinson’s disease (PD) patients with diurnal visual hallucinations (VHs). Assessment was performed using magnetic resonance image (MRI) and voxel-based morphometry (VBM). Thirty-nine patients with PD (53.8%) and ten controls were studied. Voxel based morphology analysis was performed. Eleven patients presented diurnal VHs and among these, six had cognitive dysfunction. Patients with VHs performed worse in the mentation-related UPDRS I (p = 0.005) and motor-related UPDRS III (p = 0.02). Patients with VHs showed significant clusters of reduced grey matter volume compared to controls in the left opercula frontal gyrus and left superior frontal gyrus. PD without hallucinations demonstrated reduced grey matter volume in the left superior frontal gyrus compared to controls. Comparisons between patients with VHs regarding the presence of cognitive dysfunction showed that cases with cognitive dysfunction as ...
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characteri... more Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.
A embolia pulmonar está associada a síndrome do desconforto respiratório agudo em pacientes com p... more A embolia pulmonar está associada a síndrome do desconforto respiratório agudo em pacientes com pneumonia por COVID-19, com relatos de possível associação a eventos tromboembólicos arteriais e venosos. Foram realizados exames de angiotomografia em pacientes internados com diagnóstico laboratorial de COVID-19, e suspeita clínica de TEP com exame laboratoriais D-dímero alterados. Dois pacientes tinham acometimento apenas de artérias segmentares, enquanto os outros dois tinham acometimento de artérias segmentares e subsegmentares. O COVID-19 pode levar a eventos tromboembólicos arteriais e venosos, consequente à resposta inflamatória sistêmica excessiva, atividade pró-coagulante devido à imobilização e hipóxia, ou coagulação intravascular disseminada.
Pacientes com doenca de Parkinson (DP) foram estudados quanto as alteracoes clinicas, o ciclo vig... more Pacientes com doenca de Parkinson (DP) foram estudados quanto as alteracoes clinicas, o ciclo vigilia sono, as alucinacoes visuais, as discinesias, os sintomas depressivos e a analise morfometrica voxel-a-voxel atraves de Ressonância Magnetica (RM). Os pacientes (N=100, 67% masculinos), com idade entre 45 e 80 anos foram avaliados quanto as alteracoes do sono (Parkinson’s Disease Sleep Scale, PDSS), a qualidade do sono (Pittsburgh Sleep Quality Index, PSQI), o grau de sonolencia diurna (Epworth Sleepiness Scale, ESS) e a gravidade dos sintomas (Unified Parkinson’s Disease Scale, UPDRS partes I, II, III e IV). Os sintomas depressivos foram avaliados atraves das escalas de Beck Depression Inventory (BDI) e Hospital Anxiety Depression (HAD) e a funcao cognitiva atraves do Mini Exame do Estado Mental (MEEM). A dose equivalente de levodopa (DEL) foi avaliada. Alucinacoes visuais (AVs) foram observadas em 28% dos pacientes e nao houve diferenca estatisticamente significativa quanto ao sex...
Parkinson&amp... more Parkinson's disease (PD) patients frequently present visual hallucinations (VHs) that have been associated with depression, old age, and cognitive impairment. Sleep abnormalities are also related to these factors. The aim of this study is to evaluate risk factors, particularly sleep alterations, associated with VHs in PD. This is a cross-sectional evaluation of consecutive patients from a Movement Disorder's clinics. Patients were clinically evaluated, and behavioral questionnaires were applied in a face-to-face interview. Among 100 PD patients (67% male, mean age = 65.0 ± 10.4), VHs were present in 28% of cases; individuals with VHs had worse sleep quality (Pittsburgh Sleep Questionnaire Index) and more severe sleep disturbances [Parkinson's Disease Sleep Scale (PDSS)]. Logistic regression analysis showed that vivid dreams and Unified Parkinson's Disease Rating Scale (UPDRS) I scores (i.e., mentation, behavior, and mood symptoms) are independently associated with VHs. Our data show that the presence of vivid dreams is associated with VHs in PD and reaffirm that VHs are linked to cognitive impairment. Investigating vivid dreams may help the identification of VHs in PD. Identifying vivid dreams can be hard considering that patients may fail to report symptoms for the fear of the stigma associated with psychosis and dementia.
Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracteriza... more Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de...
This study evaluates the diagnostic value of morphometric magnetic resonance imaging (MRI) in the... more This study evaluates the diagnostic value of morphometric magnetic resonance imaging (MRI) in the differential diagnosis among Parkinson's disease (PD), progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). We studied 21 PD cases, 11 MSA-c, 8 MSA-p and 20 PSP cases. Midbrain area (Ams), pons area (Apn), middle cerebellar peduncle (MCP) and superior cerebellar peduncle (SCP) were measured using MRI. Comparisons were made between PD, MSA-p, MSA-c and PSP. Apn, MCP and SCP morphometry dimensions presented differences among groups. Ams below 105 mm² and SCP smaller than 3 mmwere the most predictive measures of PSP (sensitivity 95.0 and 80.0%, respectively). For the group of MSA-c patients, Apn area below 315 mm² showed good specificity and positive predictive value (93.8% and 72.7%, respectively). In conclusion, dimensions and cut off values obtained from routine MRI can differentiate between PD, PSP and MSA-c with good sensitivity, specificity and accuracy.
ABSTRACT- Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder ca... more ABSTRACT- Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical tri-ad of congenital ichthyosis, mental re t a rdation and spastic di- or tetraplegia. Magnetic resonance imag-ing (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cere b r a l p roton MR spectroscopy (1H-MRS) reveals a characteristic abnormal lipid peak. We re p o rt three cases of SLS from different families with the typical clinical triad. The MRI and 1H-MRS findings are discussed. KEY WORDS: Sjögren-Larsson syndrome, magnetic resonance imaging, proton spectroscopy. S í n d rome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes RESUMO- A síndrome de Sjögren-Larsson (SJL) é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, re t a rdo mental e tetr...
The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterize... more The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation-Fortaleza-Ceará-Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the f...
The objective is to evaluate clinical characteristics and cerebral alterations in Parkinson’s dis... more The objective is to evaluate clinical characteristics and cerebral alterations in Parkinson’s disease (PD) patients with diurnal visual hallucinations (VHs). Assessment was performed using magnetic resonance image (MRI) and voxel-based morphometry (VBM). Thirty-nine patients with PD (53.8%) and ten controls were studied. Voxel based morphology analysis was performed. Eleven patients presented diurnal VHs and among these, six had cognitive dysfunction. Patients with VHs performed worse in the mentation-related UPDRS I (p = 0.005) and motor-related UPDRS III (p = 0.02). Patients with VHs showed significant clusters of reduced grey matter volume compared to controls in the left opercula frontal gyrus and left superior frontal gyrus. PD without hallucinations demonstrated reduced grey matter volume in the left superior frontal gyrus compared to controls. Comparisons between patients with VHs regarding the presence of cognitive dysfunction showed that cases with cognitive dysfunction as ...
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