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BACKGROUND: Retropharyngeal calcific tendinitis is an aseptic inflammation of the longus cervicis muscle. This rare acute pain disorder of the neck region is a prognostically benign condition compared to neurological or otorhinolaryngological differential diagnoses. OBJECTIVE: To capture the clinical appearance, diagnostics, treatment and course of this rare disease. MATERIAL AND METHODS: In this retrospective monocentric observational study, demographic, clinical, paraclinical as well as treatment and follow-up data of all inpatients with a diagnosis of retropharyngeal calcific tendinitis admitted to the Diako Hospital Mannheim in the years 2018 to 2021 were analyzed. RESULTS: This study included four female and one male patient with an age between 36 years and 77 years. Severe neck pain with restriction of cervical spine rotation was the leading clinical appearance, in four out of five patients there was a painful swallowing disorder. Inflammatory markers were elevated in four patients. Characteristic MRI or CT imaging alterations of the cervical spine confirmed the diagnosis. The symptoms resolved within 4-14 days after treatment with nonsteroidal anti-inflammatory drugs (NSAID) and four patients additionally received glucocorticoids. No recurrences were observed during the follow-up period of 5-30 months. CONCLUSION: The good prognosis of this rare disease is reflected by the rapid remission of symptoms under NSAIDs and glucocorticoids and by the absence of recurrences during follow-up. CT or MRI imaging is required to rule out differential diagnoses, and to confirm the characteristic imaging alterations of retropharyngeal calcific tendinitis. Additionally, cerebrospinal fluid puncture and otorhinolaryngological assessment may be necessary in some cases.
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Background Posterior instability is a pathologic movement occurring in the spondylolytic cleft. Purpose To present a new classification system for the evaluation of spondylolytic cleft by positional magnetic resonance imaging (MRI) and determine the prevalence of the different types. Material and Methods A total of 176 segments of the lumbar spine with spondylolysis or isthmic spondylolisthesis were examined using positional MRI. Scans were obtained in neutral sitting, flexion, and extension positions. No visible movement in the cleft was defined as type A, fluid displaced into the cleft as type BI, displacement of the flava ligaments at the level of the cleft as type BII, and intraspinal cysts arising from the spondylolytic cleft as type BIII. The movements were characterized by a radiologist and a neurosurgeon experienced in positional MRI. Clinical findings were correlated with the different types of instability. Results A high agreement was found between the two observers. In total, 131 segments were characterized as type A, six as type BI, 24 as type BII, and 10 as type BIII. In five segments, the type differed between the right and the left side. Two patients had a mixed type BI/II, another two patients had a mixed type BII/III, and one patient had a mixed type BI/III. Patients with type BII and BIII instabilities suffered more often from radicular symptoms compared to patients without any instability. Conclusion The presented classification might help to better understand and study changes encountered in the spondylolytic cleft in patients with spondylolysis and isthmic spondylolisthesis using positional MRI.
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Vértebras Lombares/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Postura , Espondilólise/diagnóstico por imagem , Adulto , Feminino , Humanos , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Amplitude de Movimento Articular/fisiologia , Espondilolistese/diagnóstico por imagem , Espondilolistese/fisiopatologia , Espondilólise/fisiopatologiaRESUMO
PURPOSE: To determine the usefulness of acquiring extension radiographs for the evaluation of the degree of spondylolisthesis. METHODS: Routine radiographs of the lumbar spine were retrospectively evaluated in 87 patients (mean-age 63, range 32-86) by two independent radiologists. All patients received radiographs in standing neutral, flexion and extension position. Vertebral body depth, sagittal translational displacement and lordosis angle were measured and slip percentage (SP) was calculated on standing neutral, flexion and extension radiographs. Statistical analysis was performed with a two-sided t test. Inter- and intraobserver reliability was assessed using the kappa-coefficient. RESULTS: There was no statistically significant SP-difference between neutral standing and extension images. Ventral instability was diagnosed in 25-34 % (cut-off >8 % SP-difference) for neutral versus flexion comparison. The detection rate of flexion-extension radiographs representing the extremes of motion was lower with 15-22 %. Inter- and intraobserver reliability was good to excellent. CONCLUSION: Slip percentage in routine standing extension radiography ultimately does not differ from that obtained in a static neutral standing view. Extension radiography may therefore be omitted in a routine work-up of ventral instability in lumbar spondylolisthesis.
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Instabilidade Articular/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Espondilolistese/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , Amplitude de Movimento Articular , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
BACKGROUND/AIMS: Juxtafacet cysts (JFC) are related to facet joint degeneration. Supine MRI is routinely used to evaluate JFC. However, some JFC are missed and found only intraoperatively. The present study addresses positional MRI features and factors leading to variation in the size of JFC. METHODS: Fifty patients in whom positional MRI had been performed were investigated retrospectively and 67 distinct intraspinal or intraneuroforaminal were JFC found. Signal intensity, size of the JFC, the presence and variance of a vertebral slip and the angular movement of affected segments were assessed in supine, neutral sitting, flexion (sitting) and extension (standing). The overall movement of the spine and the lordosis angle in different positions were measured. RESULTS: JFC varied in size in segments with unstable slip and increased angular movement (variation of the angle in the affected segment in function: 13.3 degrees compared to 8.7 degrees). JFC with bright signals tended to vary in size compared to JFC with intermediate or low signal intensity (all: p < 0.001). Joint effusion and displacement of effusion lead to formation and variations in the size of JFC. JFC were most prominent in extension: 6.7 mm, less prominent in supine: 5.5 mm and in neutral sitting position: 4.6 mm (all p < 0.05). The detection rate for JFC was 97% for extension, 89% for supine and 78% for neutral sitting. CONCLUSIONS: The detection rate of JFC improves with increasing lordosis of the spine and under weight-bearing conditions, particularly when standing. Unstable slipping or increased angular movement affects the size of JFC.
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Cistos/complicações , Cistos/patologia , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética/métodos , Doenças da Coluna Vertebral/complicações , Doenças da Coluna Vertebral/patologia , Articulação Zigapofisária/patologia , Feminino , Humanos , Instabilidade Articular/etiologia , Instabilidade Articular/patologia , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Levamisole is a common adulterant of cocaine and has been associated with reversible leukoencephalopathy in cocaine users. We report a case of two episodes with severe neurological symptoms and multifocal white matter lesions with brainstem and cerebellar involvement in a 29-year-old man after sporadic cocaine consumption. A urinalysis was positive for levamisole. Neurological deficits as well as MRI presentation improved after cessation of levamisole exposure and two courses of intravenous high-dose glucocorticoid therapy. Early diagnosis of levamisole-induced multifocal leukoencephalopathy and treatment with corticosteroids without delay is essential for a good recovery from neurological symptoms. Although cocaine is one of the most prevalent abused illicit drugs, cocaine- and levamisole-induced multifocal leukoencephalopathy is underdiagnosed as this disorder is not often described in the literature and anamnesis of drug abuse is not admitted by the patient. Therefore, an additional screening for cocaine and levamisole in clinical practice is useful in similar cases to support the diagnosis.
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OBJECTIVE: Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is characterized by basal ganglia calcifications, loss of white matter, cerebrospinal fluid (CSF) lymphocytosis, and elevated interferon-alpha levels in the CSF. Studies have shown that AGS is an autosomal-recessive disease linked to mutations in 5 genes, encoding the 3'-repair DNA exonuclease 1 (TREX1), the 3 subunits of ribonuclease H2 (RNASEH2A-C), and sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1). In this study we further characterized the phenotypic spectrum of this disease. METHODS: Clinical and laboratory data were obtained from 26 patients fulfilling the clinical diagnostic criteria for AGS. Genomic DNA was screened for mutations in all 5 AGS genes by direct sequencing, and sera were analyzed for autoantibodies. RESULTS: In 20 patients with AGS, 20 mutations, 12 of which were novel, were identified in all 5 AGS genes. Clinical and laboratory investigations revealed a high prevalence of features (some not previously described in patients with AGS) that are commonly seen in patients with systemic lupus erythematosus (SLE), such as thrombocytopenia, leukocytopenia, antinuclear antibodies, erythematous lesions, oral ulcers, and arthritis, which were observed in 12 (60%) of 20 patients with AGS. Moreover, the coexistence of AGS and SLE, was for the first time, demonstrated in 2 patients with molecularly proven AGS. CONCLUSION: These findings expand the phenotypic spectrum of lupus erythematosus in AGS and provide further insight into its disease mechanisms by showing that activation of the innate immune system as a result of inherited defects in nucleic acid metabolism could lead to systemic autoimmunity.
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Doenças Autoimunes do Sistema Nervoso/genética , Encefalopatias/genética , Exodesoxirribonucleases/genética , Lúpus Eritematoso Sistêmico/genética , Proteínas Monoméricas de Ligação ao GTP/genética , Fosfoproteínas/genética , Ribonuclease H/genética , Adolescente , Adulto , Doenças Autoimunes do Sistema Nervoso/epidemiologia , Doenças Autoimunes do Sistema Nervoso/patologia , Encefalopatias/epidemiologia , Encefalopatias/patologia , Criança , Pré-Escolar , Distonia/epidemiologia , Distonia/genética , Feminino , Predisposição Genética para Doença/epidemiologia , Humanos , Lactente , Lúpus Eritematoso Sistêmico/epidemiologia , Lúpus Eritematoso Sistêmico/patologia , Imageamento por Ressonância Magnética , Masculino , Hipotonia Muscular/epidemiologia , Hipotonia Muscular/genética , Mutação de Sentido Incorreto , Fenótipo , Polimorfismo de Nucleotídeo Único , Prevalência , Proteína 1 com Domínio SAM e Domínio HD , Adulto JovemRESUMO
BACKGROUND: Transient sub-aponeurotic fluid collections are rarely recognized lesions that may be frequently related to traumatic labor and occur within weeks after birth. Their etiology has remained uncertain. METHODS AND RESULTS: Here we report on five new cases with typical clinical findings and normal neuroimaging. A detailed analysis of the lesion aspirates was performed in three patients, always revealing beta(2)-transferrin and high concentrations of beta-trace protein. CONCLUSIONS: This indicates that cerebrospinal fluid leakage contributes to this rare condition. All lesions disappeared spontaneously within 2-5 months so that conservative treatment seems appropriate.
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Traumatismos do Nascimento/patologia , Líquido Cefalorraquidiano/fisiologia , Fístula/patologia , Couro Cabeludo/patologia , Idade de Início , Traumatismos do Nascimento/diagnóstico por imagem , Feminino , Fístula/diagnóstico por imagem , Fístula/etiologia , Humanos , Lactente , Oxirredutases Intramoleculares/análise , Oxirredutases Intramoleculares/metabolismo , Lipocalinas/análise , Lipocalinas/metabolismo , Imageamento por Ressonância Magnética , Masculino , Couro Cabeludo/anatomia & histologia , Couro Cabeludo/diagnóstico por imagem , Espaço Subaracnóideo/patologia , Espaço Subaracnóideo/fisiopatologia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Transferrina/análise , Transferrina/metabolismo , UltrassonografiaRESUMO
Gastric artery aneurysm is rare and accounts for fewer than 5% of all splanchnic artery aneurysms. The diagnosis is usually established during emergent surgery or at autopsy because warning signs or symptoms are vague, absent, or unrecognized. Nearly 80% of the patients reported with gastric artery aneurysm die. Preoperative diagnosis of gastric artery aneurysm is an essential contribution to treat safely and effectively the aneurysms and to reduce the high mortality rate. We report a successful treatment with transcatheter arterial embolization (TAE) of two cases of a left gastric artery aneurysm diagnosed using contrast-enhanced computed tomography. Case 1 was a ruptured aneurysm with shock. Embolization was successfully performed as the left gastric artery aneurysm was diagnosed by computed tomography at rupture. Case 2 had multiple hepatocellular carcinomas, and a left gastric artery aneurysm was diagnosed by follow-up computed tomography. Embolization was successfully performed for the left gastric artery aneurysm, and chemoembolization was repeatedly performed for multiple hepatocellular carcinomas after embolization of the aneurysm.
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Aneurisma/terapia , Artéria Celíaca/patologia , Embolização Terapêutica/métodos , Estômago/irrigação sanguínea , Idoso , Angiografia/métodos , Meios de Contraste/farmacologia , Feminino , Humanos , Inflamação , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X/métodos , Resultado do TratamentoRESUMO
OBJECTIVE: The purpose of our study was to assess the efficacy of transcatheter arterial embolization for pancreaticoduodenal artery aneurysms. CONCLUSION: We concluded that transcatheter arterial embolization is the initial and definitive therapeutic choice for pancreaticoduodenal artery aneurysms, with a possible option to perform surgery after embolization.
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Aneurisma/terapia , Embolização Terapêutica/métodos , Circulação Esplâncnica , Idoso , Aneurisma/patologia , Cateterismo , Duodeno/irrigação sanguínea , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pâncreas/irrigação sanguínea , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVE: To assess the diagnostic value and to optimize image reconstruction for multislice spiral computed tomography (MSCT) of the sternum. MATERIALS AND METHODS: Forty patients underwent MSCT of the sternum using a standardized examination protocol (4x1 mm or 4x2.5 mm collimation; 120 kV, 120 mAseff). Axial images with an effective slice thickness of 1.25 mm or 3 mm and an increment of 0.8 mm or 1 mm were reconstructed. Coronal and sagittal reformations with a slice thickness between 2 mm or 3 mm and 5 mm and a slice distance ranging from 1 mm to 4 mm (overlap 1 mm) were calculated. In all patients, additional plain film radiographs (n=9) or clinical follow-up data were available. Image quality was assessed visually using a five-point grading scale. RESULTS: In all patients, the correct diagnosis was established using multiplanar reformats (MPR) exclusively. Best image quality for MPR was achieved using a slice thickness of 3 mm and a slice distance of 2 mm. Images acquired with a 4x1 mm collimation proved superior to images reconstructed from data obtained with a 4x2.5 mm collimation. CONCLUSION: MPR from MSCT data are a valuable tool for the diagnosis of sternal pathologies. For best image quality the thinnest possible collimation should be chosen.
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Processamento de Imagem Assistida por Computador , Esterno/diagnóstico por imagem , Tomografia Computadorizada Espiral , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Estudos Retrospectivos , Esterno/patologiaRESUMO
A comparative study of the microcirculatory changes in the developing liver cirrhosis between the central and peripheral parts of the main lobe in mice. INTRODUCTION: To investigate whether a difference in microvascular vascular changes occurring in the peripheral and the central area of the main liver lobe exists and if, it can explain the liver atrophy observed predominantly in the peripheral part of the main liver lobe. MATERIALS AND METHODS: Liver cirrhosis was induced in mice and the microvascular changes asserted using an intravital microscopy system after 1, 2, 3 and 8 weeks of treatment. RESULTS: The mean blood velocity increased in the sinusoids; intrahepatic shunts appeared predominantly in the peripheral area and larger sized afferent terminal portal venules were rarefied in the peripheral area, with the central area being not affected. DISCUSSION: The difference between the peripheral and central area shows a decreased direct and indirect reduction of the blood flow to the periphery of the main lobe, through the reduced number of afferent terminal portal venules and the development of intrahepatic shunting.
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BACKGROUND: Aicardi-Goutières syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia, spasticity, epileptic seizures, progressive microcephaly, and severe developmental delay. The aim of our study was the characterization of epilepsy, one of the most frequent and severe AGS manifestations, in molecularly confirmed patients. METHODS: We reviewed the medical records, EEG, and CT/MRI findings in 16 patients aged 1-22 years that carried AGS1-5 mutations. RESULTS: Epilepsy manifested in 12 (75%) patients and took a refractory course in 9 (56%). 4 (25%) patients presented with seizures in the first four weeks and 11 (69%) altogether in the first year of life. Spasms were reported in 3 (19%) patients, focal seizures in 4 (25%), myoclonic in 5 (31%), symmetric or asymmetric tonic in 11 (69%), generalized tonic-clonic in 3 (19%) and status epilepticus in 4 (25%). EEG recordings initially showed a slow and disorganized background, followed by a regional intermittent theta/delta slow, while obvious multifocal or generalized epileptic discharges were only observed at follow-up. None of these EEG features were specific of AGS. There was no discernible correlation between the genotype and epilepsy onset, seizure types and epilepsy evolution. Epilepsy severity did not correspond to neuroimaging pathology. DISCUSSION: Epilepsy constitutes a cardinal feature of AGS, characterized by early onset, predominantly tonic semiology and a refractory course. The early discrimination of epileptic seizures from paroxysmal dystonia poses a challenge for neuropaediatricians, considering the initially inconspicuous or non-specific EEG findings. This study underlines the necessity of a more systematic serial evaluation of AGS patients using long-term video-EEG recordings.
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Doenças Autoimunes do Sistema Nervoso/fisiopatologia , Epilepsia/fisiopatologia , Malformações do Sistema Nervoso/fisiopatologia , Adolescente , Adulto , Idade de Início , Doenças Autoimunes do Sistema Nervoso/complicações , Doenças Autoimunes do Sistema Nervoso/genética , Criança , Pré-Escolar , Epilepsia/etiologia , Epilepsia/genética , Seguimentos , Humanos , Lactente , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/genética , Fenótipo , Estudos Retrospectivos , Índice de Gravidade de Doença , Adulto JovemRESUMO
STUDY DESIGN: Imaging study with an evaluation of incidences and clinical correlation. OBJECTIVE: To evaluate the incidence of 3 different types of instabilities in patients with spondylolysis or isthmic spondylolisthesis. Clinical findings are correlated with imaging findings, and the imaging findings are analyzed with regard to their clinical implications. SUMMARY OF BACKGROUND DATA: Spondylolysis and isthmic spondylolisthesis are common disorders. An unstable slip is the most well-known form of instability, but other forms also exist. However, the incidence of these instabilities and their clinical implications are yet unclear. METHODS: A total of 140 patients with 141 levels of spondylolysis identified by MRI (magnetic resonance imaging) were included in this study. Using positional MRI, the instability of the slip, an increased angular movement, and movement in the spondylolytic cleft were assessed. On the basis of clinical findings, the patients were classified as presenting with either radicular or nonradicular symptoms. The incidence of the instabilities was recorded and correlated with the incidence of radicular symptoms. RESULTS: Fifteen patients had an unstable slip (anterior instability); 35, an increased angular movement (angular instability); and 34 patients, a movement in the spondylolytic cleft (posterior instability). All forms of instability could be found together. No instability at all was found in 76 patients. Radicular symptoms were found significantly more often in patients with one or more of the described instabilities compared with patients without instability. CONCLUSION: All 3 described forms of instability are common in spondylolysis or isthmic spondylolisthesis and associated with radicular pain. This finding stresses the value of positional MRI in the evaluation of patients with spondylolysis and isthmic spondylolisthesis, especially if radicular symptoms are present.
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Instabilidade Articular/epidemiologia , Vértebras Lombares/fisiopatologia , Espondilolistese/epidemiologia , Espondilólise/epidemiologia , Fenômenos Biomecânicos , Distribuição de Qui-Quadrado , Alemanha , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/fisiopatologia , Imageamento por Ressonância Magnética , Prevalência , Prognóstico , Amplitude de Movimento Articular , Espondilolistese/diagnóstico , Espondilolistese/fisiopatologia , Espondilólise/diagnóstico , Espondilólise/fisiopatologiaRESUMO
Aicardi-Goutières syndrome is an early-onset encephalopathy with a presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. The clinical picture resembles a congenital viral infection despite negative investigations for common viruses. In addition to leukoencephalopathy with calcifications of basal ganglia, patients show increased levels of the antiviral cytokine interferon-α in cerebrospinal fluid. We report on a 12-year-old boy with Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) due to mutations in the SAMHD1 (sterile alpha motif domain and HD domain-containing protein 1) gene, illustrating an emerging pattern of the natural history of Aicardi-Goutières syndrome characterized by neurological disease followed by symptoms of systemic autoimmunity. Thus, Aicardi-Goutières syndrome constitutes a model disease for systemic autoimmunity triggered by the activation of the innate immune system. Recognition of the etiologic link between Aicardi-Goutières syndrome and systemic lupus erythematosus has direct implications on therapeutic management and suggests that early immune modulatory intervention can improve neurological outcome.
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Doenças Autoimunes do Sistema Nervoso/complicações , Doenças Autoimunes do Sistema Nervoso/genética , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/genética , Proteínas Monoméricas de Ligação ao GTP/genética , Mutação/genética , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/genética , Criança , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Proteína 1 com Domínio SAM e Domínio HDRESUMO
BACKGROUND: The aim was to investigate the effect of patient position on the size of the cisterna chyli using positional MRI. The cisterna chyli is usually the only large lymphatic vessel that can be found on cross-sectional imaging. Not much is known about its postural behavior. However, animal studies suggest that the cisterna chyli varies in size according to physical activity. METHODS AND RESULTS: Retrospectively, 998 MRI scans of patients referred for positional MRI were reviewed. Ten patients had acquired axial scans in at least two positions at the level T12/L1 or/and L1/2 and were included in the study. The area representing the cisterna chyli was assessed on axial images and its size was compared in different positions. The size of the cisterna chyli determined as the cross-sectional area was 14.7 mm² ± 17.3 mm² in the supine position, 43.8 mm² ± 3.1 mm² in the sitting position, and 62.9 mm² ± 42.5 mm² in the standing position. Using the t-test, a statistically significant difference was found in the size of the cistern chyli between supine and standing positions and between supine and sitting positions. CONCLUSIONS: The size of the cisterna chyli shows postural variations. This finding is discussed in regards to possible implications of interventional procedures in the thoracic duct. Physicians reading MR images acquired in positions other than supine should be aware of these physiological changes.
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Postura , Ducto Torácico/anatomia & histologia , Idoso , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Cintilografia , Estudos Retrospectivos , Ducto Torácico/diagnóstico por imagemAssuntos
Quimioterapia do Câncer por Perfusão Regional/métodos , Pelve , Antineoplásicos/administração & dosagem , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Retais/tratamento farmacológico , Neoplasias da Bexiga Urinária/tratamento farmacológico , Neoplasias Uterinas/tratamento farmacológicoRESUMO
Tuberous sclerosis complex is an autosomal dominant disorder affecting primarily the central nervous system, skin, and kidney caused by mutations in the TSC1 and TSC2 genes. Diagnosis is established with the identification of various neurocutaneous symptoms and multiple organ system hamartomas. The authors report on a 9-year-old patient with episodes of vertigo and headache followed by full spontaneous recovery. There was no history of seizures, mental retardation, or other neurologic sequelae, and psychomotor development was normal. Magnetic resonance imaging revealed pial angiomatosis of the left cerebellum and calcifications in the left parieto-occipital lobe consistent with the diagnosis of Sturge-Weber syndrome. At the age of 13, multiple renal angiomyolipomas and a single hypomelanotic macule were found, and subsequent imaging revealed several cortical tuberi. The diagnosis was confirmed by sequence analysis, which identified a novel missense mutation p.Ala460Thr in exon 13 of the TSC2 gene. Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis.
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Síndrome de Sturge-Weber/diagnóstico , Esclerose Tuberosa/diagnóstico , Proteínas Supressoras de Tumor/genética , Encéfalo/patologia , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto , Síndrome de Sturge-Weber/complicações , Síndrome de Sturge-Weber/patologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia , Proteína 2 do Complexo Esclerose TuberosaRESUMO
A 74-year-old male claudicant who had a significant abdominal aortic stenosis was hydrated before aortic stent placement because of an elevated creatinine level. During the intervention the patient experienced acute abdominal pain with vomiting. No vascular cause was detected. Due to persistent pain, plain radiography and an abdominal CT scan were performed a few hours after the procedure. Images revealed a bilateral renal fornix rupture with a large retroperitoneal fluid collection. The patient was treated conservatively with ureteral double-J placement and percutaneous nephrostomy. The further course was uneventful and the patient was discharged 2 weeks later free of symptoms. Renal fornix rupture is a very rare complication after contrast medium application that can be treated without surgery.