RESUMO
BACKGROUND AND PURPOSE: Little is known about imaging features of spinal cord lesions in mitochondrial disorders. The aim of this research was to assess the frequency, imaging features, and pathogenic variants causing primary mitochondrial disease in children with spinal cord lesions. MATERIALS AND METHODS: This retrospective analysis included patients seen at Children's Hospital of Philadelphia between 2000 and 2019 who had a confirmed diagnosis of a primary (genetic-based) mitochondrial disease and available MR imaging of the spine. The MR imaging included at least both sagittal and axial fast spin-echo T2-weighted images. Spine images were independently reviewed by 2 neuroradiologists. Location and imaging features of spinal cord lesions were correlated and tested using the Fisher exact test. RESULTS: Of 119 children with primary mitochondrial disease in whom MR imaging was available, only 33 of 119 (28%) had available spine imaging for reanalysis. Nineteen of these 33 individuals (58%) had evidence of spinal cord lesions. Two main patterns of spinal cord lesions were identified: group A (12/19; 63%) had white ± gray matter involvement, and group B (7/19; 37%) had isolated gray matter involvement. Group A spinal cord lesions were similar to those seen in patients with neuromyelitis optica spectrum disorder, multiple sclerosis, anti-myelin oligodendrocyte glycoprotein-IgG antibody disease, and leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Group B patients had spinal cord findings similar to those that occur with ischemia and viral infections. Significant associations were seen between the pattern of lesions (group A versus group B) and the location of lesions in cervical versus thoracolumbar segments, respectively (P < .01). CONCLUSIONS: Spinal cord lesions are frequently observed in children with primary mitochondrial disease and may mimic more common causes such as demyelination and ischemia.
Assuntos
Doenças Mitocondriais/patologia , Neuroimagem/métodos , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Inflamação/diagnóstico , Inflamação/patologia , Isquemia/diagnóstico , Isquemia/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Retrospectivos , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/etiologia , Doenças da Medula Espinal/patologiaRESUMO
Schizophrenia is a psychiatric disorder that affects 21 million people worldwide. Despite several studies having been shown that some brain regions may play a critical role in the pathophysiology of schizophrenia, the molecular basis to explain this diversity is still lacking. The cerebellum (CER), caudate nucleus (CAU), and posterior cingulate cortex (PCC) are areas associated with negative and cognitive symptoms in schizophrenia. In this study, we performed shotgun proteomics of the aforementioned brain regions, collected postmortem from patients with schizophrenia and compared with the mentally healthy group. In addition, we performed a proteomic analysis of nuclear and mitochondrial fractions of these same regions. Our results presented 106, 727 and 135 differentially regulated proteins in the CAU, PCC, and CER, respectively. Pathway enrichment analysis revealed dysfunctions associated with synaptic processes in the CAU, transport in the CER, and in energy metabolism in the PCC. In all brain areas, we found that proteins related to oligodendrocytes and the metabolic processes were dysregulated in schizophrenia. SIGNIFICANCE: Schizophrenia is a complex and heterogeneous psychiatric disorder. Despite much research having been done to increase the knowledge about the role of each region in the pathophysiology of this disorder, the molecular mechanisms underlying it are still lacking. We performed shotgun proteomics in the postmortem cerebellum (CER), caudate nucleus (CAU) and posterior cingulate cortex (PCC) from patients with schizophrenia and compared with healthy controls. Our findings suggest that each aforementioned region presents dysregulations in specific molecular pathways, such as energy metabolism in the PCC, transport in the CER, and synaptic process in the CAU. Additionally, these areas presented dysfunctions in oligodendrocytes and metabolic processes. Our results may highlight future directions for the development of novel clinical approaches for specific therapeutic targets.
Assuntos
Esquizofrenia , Encéfalo/metabolismo , Metabolismo Energético , Humanos , Proteoma/metabolismo , ProteômicaRESUMO
Pathogenic variants in the polymerase γ gene (POLG) cause a diverse group of pathologies known as POLG-related disorders. In this report, we describe brain MR imaging findings and electroencephalogram correlates of 13 children with POLG-related disorders at diagnosis and follow-up. At diagnosis, all patients had seizures and 12 had abnormal MR imaging findings. The most common imaging findings were unilateral or bilateral perirolandic (54%) and unilateral or bilateral thalamic signal changes (77%). Association of epilepsia partialis continua with perirolandic and thalamic signal changes was present in 86% and 70% of the patients, respectively. The occipital lobe was affected in 2 patients. On follow-up, 92% of the patients had disease progression or fatal outcome. Rapid volume loss was seen in 77% of the patients. The occipital lobe (61%) and thalamus (61%) were the most affected brain regions. Perirolandic signal changes and seizures may represent a brain imaging biomarker of early-onset pediatric POLG-related disorders.
Assuntos
Encéfalo/diagnóstico por imagem , Doenças Mitocondriais/diagnóstico por imagem , Neuroimagem/métodos , Convulsões/diagnóstico por imagem , Convulsões/genética , Encéfalo/patologia , Criança , Pré-Escolar , DNA Polimerase gama/genética , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Mitocondriais/genética , Doenças Mitocondriais/patologia , Estudos Retrospectivos , Convulsões/patologiaRESUMO
Hemiplegic migraine is a common cause of acute brain attack in pediatrics. MR imaging sequences useful in differentiating hemiplegic migraine from other entities include arterial spin-labeling, SWI, MRA, and DWI. There has been limited exploration on the simultaneous use of these sequences in pediatrics. We present 12 pediatric patients with acute hemiplegic migraine or migraine with aura who underwent MR imaging within 12 hours of symptom onset. Quantitative and qualitative analyses were performed on arterial spin-labeling; and qualitative analysis, on SWI and MRA sequences. All 12 patients had normal DWI and abnormal arterial spin-labeling findings. Furthermore, we observed a more rapid transition from hypoperfusion to rebound hyperperfusion in 3 patients compared with prior reports. These findings support the use of multimodal MR imaging to distinguish migraine with aura from stroke and the simultaneous use of these MR imaging sequences to improve understanding of perfusion changes during migraine with aura.
Assuntos
Imageamento por Ressonância Magnética/métodos , Enxaqueca com Aura/diagnóstico por imagem , Neuroimagem/métodos , Acidente Vascular Cerebral/diagnóstico por imagem , Circulação Cerebrovascular , Criança , Feminino , Humanos , MasculinoRESUMO
BACKGROUND AND PURPOSE: Iterative reconstruction techniques facilitate CT dose reduction; though to our knowledge, no group has explored using iterative reconstruction with pediatric head CT. Our purpose was to perform a feasibility study to assess the use of ASIR in a small group of pediatric patients undergoing head CT. MATERIALS AND METHODS: An Alderson-Rando head phantom was scanned at decreasing 10% mA intervals relative to our standard protocol, and each study was then reconstructed at 10% ASIR intervals. An intracranial region of interest was consistently placed to estimate noise. Our ventriculoperitoneal shunt CT protocol was subsequently modified, and patients were scanned at 20% ASIR with approximately 20% mA reductions. ASIR studies were anonymously compared with older non-ASIR studies from the same patients by 2 attending pediatric neuroradiologists for diagnostic utility, sharpness, noise, and artifacts. RESULTS: The phantom study demonstrated similar noise at 100% mA/0% ASIR (3.9) and 80% mA/20% ASIR (3.7). Twelve pediatric patients were scanned at reduced dose at 20% ASIR. The average CTDI(vol) and DLP values of the 20% ASIR studies were 22.4 mGy and 338.4 mGy-cm, and for the non-ASIR studies, they were 28.8 mGy and 444.5 mGy-cm, representing statistically significant decreases in the CTDI(vol) (22.1%, P = .00007) and DLP (23.9%, P = .0005) values. There were no significant differences between the ASIR studies and non-ASIR studies with respect to diagnostic acceptability, sharpness, noise, or artifacts. CONCLUSIONS: Our findings suggest that 20% ASIR can provide approximately 22% dose reduction in pediatric head CT without affecting image quality.
Assuntos
Algoritmos , Encéfalo/diagnóstico por imagem , Cabeça/diagnóstico por imagem , Intensificação de Imagem Radiográfica/métodos , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Tomografia Computadorizada por Raios X/métodos , Criança , Interpretação Estatística de Dados , Estudos de Viabilidade , Humanos , Imagens de Fantasmas , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/instrumentaçãoRESUMO
BACKGROUND: To assess regional brain injury on magnetic resonance imaging (MRI) after pediatric cardiac arrest (CA) and to associate regional injury with patient outcome and effects of hypothermia therapy for neuroprotection. METHODS: We performed a retrospective chart review with prospective imaging analysis. Children between 1 week and 17 years of age who had a brain MRI in the first 2 weeks after CA without other acute brain injury between 2002 and 2008 were included. Brain MRI (1.5 T General Electric, Milwaukee, WI, USA) images were analyzed by 2 blinded neuroradiologists with adjudication; images were visually graded. Brain lobes, basal ganglia, thalamus, brain stem, and cerebellum were analyzed using T1, T2, and diffusion-weighted images (DWI). RESULTS: We examined 28 subjects with median age 1.9 years (IQR 0.4-13.0) and 19 (68 %) males. Increased intensity on T2 in the basal ganglia and restricted diffusion in the brain lobes were associated with unfavorable outcome (all P < 0.05). Therapeutic hypothermia had no effect on regional brain injury. Repeat brain MRI was infrequently performed but demonstrated evolution of lesions. CONCLUSION: Children with lesions in the basal ganglia on conventional MRI and brain lobes on DWI within the first 2 weeks after CA represent a group with increased risk of poor outcome. These findings may be important for developing neuroprotective strategies based on regional brain injury and for evaluating response to therapy in interventional clinical trials.
Assuntos
Lesões Encefálicas/etiologia , Lesões Encefálicas/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Parada Cardíaca/complicações , Hipotermia Induzida/métodos , Adolescente , Encéfalo/patologia , Criança , Pré-Escolar , Feminino , Seguimentos , Parada Cardíaca/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Recuperação de Função Fisiológica , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Isolated brain stem lesions presenting with acute neurologic findings create a major diagnostic dilemma in children. Although the brain stem is frequently involved in ADEM, solitary brain stem lesions are unusual. We performed a retrospective review in 6 children who presented with an inflammatory lesion confined to the brain stem. Two children were diagnosed with connective tissue disorder, CNS lupus, and localized scleroderma. The etiology could not be determined in 1, and clinical features suggested monophasic demyelination in 3. In these 3 children, initial lesions demonstrated vasogenic edema; all showed dramatic response to high-dose corticosteroids and made a full clinical recovery. Follow-up MRI showed complete resolution of lesions, and none had relapses at >2 years of follow-up. In retrospect, these cases are best regarded as a localized form of ADEM. We conclude that though ADEM is typically a disseminated disease with multifocal lesions, it rarely presents with monofocal demyelination confined to the brain stem.
Assuntos
Tronco Encefálico/patologia , Encefalomielite Aguda Disseminada/patologia , Imageamento por Ressonância Magnética/métodos , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
GBS and its MFS variant are acute polyneuropathies that are considered to represent a continuum rather than distinct entities, due to the overlap in their clinical features. Enhancement of the CE roots represents the neuroradiologic hallmark of GBS, while findings of neuroimaging studies in MFS are usually unremarkable. Our purpose was to evaluate the MR imaging findings of polyneuropathy in 17 children affected by GBS and its MFS variant. Fourteen of our 17 patients demonstrated CE enhancement, with predominant involvement of the anterior roots. Of 6 patients who underwent MR imaging of the brain, 5 had cranial nerve involvement. In children affected by GBS-MFS, involvement of the CE roots may be considered part of a more extensive autoimmune neuropathy, as demonstrated by enhancement of cranial nerves. Brain MR imaging should be considered in the routine evaluation in pediatric patients with GBS-MFS for the evaluation of the cranial nerves.
Assuntos
Nervos Cranianos/patologia , Síndrome de Guillain-Barré/patologia , Imageamento por Ressonância Magnética , Síndrome de Miller Fisher/patologia , Adolescente , Ataxia/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Oftalmoplegia/patologia , Reflexo Anormal , Raízes Nervosas Espinhais/patologiaRESUMO
We present the neuroimaging and clinical findings in 2 nonalcoholic adult patients with WE as assessed by MR imaging. The first patient presented with gait ataxia and changes in consciousness. MR imaging disclosed bilateral lesions in the dorsal striatum and cerebellum. None of the regions typically affected in WE were involved. The second patient showed symmetric lesions in the posterior putamen associated with the alterations frequently and infrequently found WE.
Assuntos
Gânglios da Base/patologia , Desnutrição/complicações , Encefalopatia de Wernicke/patologia , Adulto , Idoso , Cerebelo/patologia , Evolução Fatal , Feminino , Humanos , Neoplasias Gástricas/complicações , Neoplasias Uterinas/complicações , Encefalopatia de Wernicke/etiologiaRESUMO
OBJECTIVES: To report a case of biopsy-proven, ANCA-associated vasculitis (AAV) involving the central nervous system (CNS) and to review the relevant literature. METHODS: Descriptive case report of one patient with AAV-related CNS vasculitis and review of the relevant literature (PubMed search from 1966 to February 2010). RESULTS: A 61-year-old female patient with AAV developed cognitive impairment. Cerebrospinal fluid analysis was unremarkable, while magnetic resonance (MR) imaging showed multiple left hemisphere infarctions and MR angiography revealed multiple stenoses of the distal branches of the left median cerebral artery. Treatment with glucocorticoids, cyclophosphamide, and intravenous immunoglobulins led to improvement. CNS vasculitis often arises when vasculitis is active elsewhere. There is no clear preponderance of gender or of age of onset. Both ANCA-positive and -negative cases of CNS vasculitis are documented. The diagnosis is usually based on clinical CNS manifestations and multiple ischaemic (sometimes haemorrhagic) MR lesions mainly affecting the white matter. Angiography is often negative. Treatment with glucocorticoids and cyclophosphamide, sometimes with adjunctive intravenous immunoglobulins, usually improves clinical features and MR lesions. CONCLUSIONS: AAV rarely involves the CNS. CNS vasculitis should be suspected if patients have neurological manifestations consistent with CNS involvement, particularly if they have evidence of disease activity elsewhere, and if MR shows multiple ischaemic (sometimes haemorrhagic) lesions mainly affecting the white matter. Sepsis, coagulation disorders, and severe hypertension must be ruled out. Awareness of this rare but severe complication can allow early recognition and prompt treatment.
Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/patologia , Infarto Encefálico/diagnóstico , Encéfalo/patologia , Vasculite do Sistema Nervoso Central/patologia , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/complicações , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/tratamento farmacológico , Encéfalo/irrigação sanguínea , Infarto Encefálico/complicações , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/patologia , Constrição Patológica/etiologia , Constrição Patológica/patologia , Ciclofosfamida/uso terapêutico , Quimioterapia Combinada , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Imunossupressores/uso terapêutico , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Artéria Cerebral Média/patologia , PubMed , Resultado do Tratamento , Vasculite do Sistema Nervoso Central/complicações , Vasculite do Sistema Nervoso Central/tratamento farmacológicoRESUMO
BACKGROUND AND PURPOSE: Wernicke encephalopathy (WE) is a severe neurologic disorder resulting from dietary vitamin B(1) deficiency. This study was undertaken to analyze and compare MR imaging findings and neurologic manifestations at clinical presentations of patients with WE with and without a history of alcohol abuse. MATERIALS AND METHODS: WE patients were identified using diagnostic neurologic data bases. Fifty-six patients (29 females, 27 males) diagnosed between 1999 and 2008 with WE who improved within 1 month from the onset of thiamine administration were included in the analysis. Patients' records were reviewed for clinical manifestations and imaging studies' findings. MR imaging was performed in the acute phase of the disease at a field strength of 1T (16 patients) and 1.5T (40 patients). All MR images were of acceptable to good quality and were retrospectively reviewed. We compared imaging findings and clinical presentation in the alcoholic (AL) group versus the non-alcoholic (NA) group using the 2-tailed Fisher exact test and the Phi coefficient as appropriate. RESULTS: Forty-three percent of the patients were in the AL group, whereas 57% were in the NA group. Eighty-nine percent showed changes in consciousness, 75% had ocular manifestations, and 54% had ataxia. On MR imaging, 80% of the patients had evidence of symmetric lesions in the medial thalami and in the periventricular region of the third ventricle; 59%, in the periaqueductal area; 45%, in the mamillary bodies; 36%, in the tectal plate; and 7%, in the periventricular gray matter located anteriorly to the fourth ventricle. Signal-intensity alterations in areas considered atypical for the disease were noted only in the NA group and always in association with the typical findings. Contrast enhancement of the thalamus and mamillary bodies was significantly associated with alcohol abuse. CONCLUSIONS: Contrast enhancement in the mamillary bodies and thalamus is a typical finding of the disease in AL patients. Atypical MR imaging findings characterize NA patients.
Assuntos
Alcoolismo/complicações , Alcoolismo/patologia , Imageamento por Ressonância Magnética/métodos , Corpos Mamilares/patologia , Tálamo/patologia , Encefalopatia de Wernicke/complicações , Encefalopatia de Wernicke/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To assess the usefulness of 1T magnetic resonance imaging (MRI) of temporal arteries and to compare 1T MRI with duplex ultrasonography (US) and physical examination of temporal arteries for the diagnosis of giant cell arteritis (GCA) in patients with suspected GCA. METHOD: The superficial temporal arteries of 20 consecutive patients with a suspected diagnosis of GCA were examined using a 1T MRI scanner. Fat-saturated multislice T1-weighted spin-echo images were acquired perpendicularly to the orientation of the vessel. In all cases, MRI results were compared to US and temporal artery examination findings. Temporal artery biopsies were performed in all patients. RESULTS: Mural contrast enhancement of the temporal arteries on MRI had a sensitivity of only 33.3% and a specificity of 87.5% for the diagnosis of biopsy-proven GCA. Compared with the diagnosis of GCA by the American College of Rheumatology criteria, MRI had a sensitivity and specificity of 27.2% and 88.9%, respectively. Temporal artery abnormalities on physical examination and the presence of a hypoechoic halo on US had a higher sensitivity (66.7% and 77.7%, respectively) and a higher specificity (100% for both) compared to MRI findings. CONCLUSION: 1T MRI is not useful for the diagnosis of GCA because of its low sensitivity. US and physical examination of temporal arteries had a better diagnostic accuracy. However, our data does not exclude a diagnostic role for higher-resolution MRI.
Assuntos
Imagem de Difusão por Ressonância Magnética , Arterite de Células Gigantes/diagnóstico por imagem , Arterite de Células Gigantes/patologia , Artérias Temporais/diagnóstico por imagem , Artérias Temporais/patologia , Idoso , Idoso de 80 Anos ou mais , Biópsia , Estudos de Coortes , Feminino , Humanos , Masculino , Sensibilidade e Especificidade , UltrassonografiaAssuntos
Anti-Infecciosos/toxicidade , Encéfalo/efeitos dos fármacos , Imageamento por Ressonância Magnética , Metronidazol/toxicidade , Deficiência de Tiamina/diagnóstico , Encefalopatia de Wernicke/induzido quimicamente , Anti-Infecciosos/farmacocinética , Anti-Infecciosos/uso terapêutico , Encéfalo/patologia , Núcleos Cerebelares/efeitos dos fármacos , Núcleos Cerebelares/patologia , Dominância Cerebral/fisiologia , Gastroenteropatias/tratamento farmacológico , Humanos , Metronidazol/farmacocinética , Metronidazol/uso terapêutico , Tiamina/antagonistas & inibidores , Núcleos Vestibulares/efeitos dos fármacos , Núcleos Vestibulares/patologiaRESUMO
BACKGROUND AND PURPOSE: Wernicke encephalopathy is a severe neurologic disorder that results from a dietary vitamin B1 deficiency. It is characterized by changes in consciousness, ocular abnormalities, and ataxia. This study was undertaken to analyze and compare findings on MR imaging and neurologic symptoms at clinical presentations of patients with Wernicke encephalopathy with and without a history of alcohol abuse. MATERIALS AND METHODS: A multicenter study group retrospectively reviewed MR brain imaging findings, clinical histories, and presentations of 26 patients (14 female, 12 male) diagnosed between 1999 and 2006 with Wernicke encephalopathy. The age range was 6-81 years (mean age, 46 .6+/-19 years). RESULTS: Fifty percent of the patients had a history of alcohol abuse, and 50% had no history of alcohol abuse. Eighty percent showed changes in consciousness, 77% had ocular symptoms, and 54% had ataxia. Only 38% of the patients showed the classic triad of the disease at clinical presentation. At MR examination, 85% of the patients showed symmetric lesions in the medial thalami and the periventricular region of the third ventricle, 65% in the periaqueductal area, 58% in the mamillary bodies, 38% in the tectal plate, and 8% in the dorsal medulla. Contrast enhancement of the mamillary bodies was statistically positively correlated with the alcohol abuse group. CONCLUSIONS: Our study confirms the usefulness of MR in reaching a prompt diagnosis of Wernicke encephalopathy to avoid irreversible damage to brain tissue. Contrast enhancement in the mamillary bodies is a typical finding of the disease in the alcoholic population.
Assuntos
Alcoolismo/patologia , Encéfalo/patologia , Imageamento por Ressonância Magnética/métodos , Encefalopatia de Wernicke/patologia , Adolescente , Adulto , Criança , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
The clinical manifestations of localised or early systemic forms of Wegener's granulomatosis (WG) do not require immediate treatment to save the patient's life and/or the function of a vital organ. The organs mainly involved are the ear, nose, throat (ENT) and lung, and the results of antineutrophil cytoplasmic antibody (ANCA) assays are frequently negative. We here describe three cases of the ANCA-negative early systemic form of WG with prevalent ENT involvement complicated by severe central nervous system (CNS) disease; in two cases, the only symptom was a mild headache. We conclude that, although apparently mild, the localised and early systemic forms of WG can hide CNS involvement and may require immediate treatment. This complication should be suspected and investigated in the case of patients with localised or early systemic disease especially in the presence of ENT involvement and negative ANCA assays.
Assuntos
Doenças do Sistema Nervoso Central/etiologia , Granulomatose com Poliangiite/complicações , Rinite/complicações , Adulto , Biópsia , Doenças do Sistema Nervoso Central/diagnóstico , Diagnóstico Diferencial , Feminino , Seguimentos , Granulomatose com Poliangiite/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Rinite/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is commonly overlooked or misdiagnosed owing to its recent identification. It is characterized clinically by recurrent cerebral infarcts, usually appearing between the ages of 30 and 50 years, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in approximately one-third of patients. The pathological hallmark of angiopathy is the presence of characteristic granular osmiophilic material (GOM) within the basal lamina of smooth muscle cells. The defective gene in CADASIL is Notch3, which encodes a large transmembrane receptor, and 70% of missense mutations are in exons 3 and 4. Each gene defect leads to either a gain or loss of a cysteine residue in the extracellular N-terminal domain of the molecule. We report the case of a 53-year-old woman admitted to the hospital for transient ischemic attack and stroke-like episodes recurrent since age 43 years. The patient had pseudobulbar palsy, pyramidal signs, and cognitive impairment but not frank dementia. Cerebral MRI showed periventricular diffuse and confluent ischemic lesions. Ultrastructural study revealed an abnormal deposition of granular osmiophilic material (GOM) within the basal lamina in skin capillaries. Direct sequence analysis of the Notch3 gene was performed. Since no mutation was detected in exons 3 and 4, the remaining exons were sequenced and a missense mutation, CGC-TGC in codon 1006 of exon 19 was found. The mutation led to a gain of a cysteine residue. This is the first missense mutation in codon 1006 of exon 19 of the Notch3 gene to be described in Italy and the second reported in the literature.
Assuntos
Códon , Demência por Múltiplos Infartos/genética , Demência por Múltiplos Infartos/patologia , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas/genética , Receptores de Superfície Celular , Encéfalo/patologia , Éxons , Saúde da Família , Feminino , Humanos , Itália/etnologia , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , RNA Mensageiro/biossíntese , Receptor Notch3 , Receptores Notch , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodosRESUMO
Plexiform neurofibromas usually occur in the neck, pelvis, and extremities. Jaws and oral cavity plexiform neurofibromas have also been described. Magnetic resonance (MR) patterns for neurofibromas are typical. They include low-to-intermediate signal intensity on T1-weighted images, enhancement of the solid component of the tumor after contrast medium administration, heterogeneity on T2-weighted images, and in some cases, multiple target signs due to a collagen central area. We report MR findings of two neurofibromatosis type 1 (NF1) patients with enlarging tongue plexiform neurofibromas.