564 research outputs found
Leucoencefalitis aguda hemorrágica de Weston Hurst. Estudio neuropatológico de un caso
Summary. Introduction. Acute hemorrhagic leukoencephalitis (AHL), or Hurst disease is a rare, usually fatal, disease, probably due
to an autoimmune cross reaction against myelin antigens present in the central nervous system, and which forms a spectrum of postinfeccious
demyelinating diseases with acute disseminated encephalomyelitis. Case report. The patient was a 21 year old female who
presented with an acute encephalopathy and generalized seizures following a 15 day febrile syndrome attributed to amygdalitis; a
laboratory work-up, including CSF, was non-diagnostic, and a brain CT scan revealed diffuse cerebral edema. After 12 days the
patient died from nosocomial pneumonia and multi-organ failure; neuropathological examination of the brain confirmed the
diagnosis of Hurst acute hemorrhagic leukoencephalitis, with a weak perilesional inflammatory reaction, unlike the usual picture
in AHL. Discussion. AHL should be a part of the differential diagnosis of acute encephalopathic diseases, particularly if preceded
by systemic infections. The atypical laboratory findings, and the impossibilty of performing a brain MRI were obstacles to the
diagnosis in this case. The relative paucity of the perivascular infiltrate is an atypical finding, and could be due to apoptotic clearance
of the inflammatory cells, as has been described in other autoimmune demyelinating diseases
Neuropatia da Doença de Hansen: Um Diagnóstico a Considerar na Investigação da Neuropatia Periférica
INTRODUCTION:
Leprosy is still one of the most frequent causes of peripheral neuropathy. Although regarded as eradicated in Portugal, is still documented in neuropathological study of patients with clinical peripheral neuropathy without proper diagnosis.MATERIAL AND METHODS:
Review of the cases of Hansen disease neuropathy diagnosed in Neuropathology Unit of Centro Hospitalar do Porto between 1978 and 2013, atending to gender, age, clinical manifestations and neuropathological findings.RESULTS:
Twenty one patients were identified with neuropathological diagnosis of Hansenâs disease neuropathy, predominantly male. The mean age at diagnosis was 52 years, and sensory symptoms predominate as neurological manifestation of disease. Interval between symptoms and diagnosis was 1-38 years. In most nerve samples tuberculoid type of disease was identified. Bacilli were detected in skin and nerve in 44% of cases.DISCUSSION:
Mononeuritis is the most common presentation of leprosy but other clinical manifestations are possible, including skin lesions. Infection with M. leprae injures myelinated and unmyelinated fibres, with replacement of nerve tissue by collagen fibrosis. The diagnosis of leprosy is only achieved by neuropathological study of skin lesions and / or peripheral nerve, supported by the identification of the bacillus.CONCLUSION:
Hansen disease remains a public health problem in tropical areas and, although rare, still described in Western countries reason why should still be considered as a diagnostic possibility in the investigation of peripheral neuropathy
Ryanodine myopathies without central cores-clinical, histopathologic, and genetic description of three cases.
BACKGROUND:
Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized.
PATIENTS:
Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-year-old girl with progressively worsening muscle hypotrophy and mild proximal, four-limb weakness. She developed a rapidly progressive scoliosis from age 11 and needed surgical treatment at age 14 years. Patient 3 is an 11-year-old boy with moderate proximal limb weakness and progressive neck flexor weakness, first noticed at age 2. Muscle biopsies revealed type 1 fiber predominance (Patients 1 and 2) or abnormal type 1 fiber uniformity (Patient 3). Different RYR1 variants were identified in all patients. In Patients 1 and 3, these changes were validated as being pathogenic.
CONCLUSIONS:
These patients illustrate early-onset, progressive myopathies with predominant axial involvement. Histopathologic findings were abnormal but not specific for a diagnosis, particularly central core myopathy. Genetic testing helped broaden the range of phenotypes included in the RYR1-related myopathies. Our patients reinforce the need to recognize the broad histopathologic variability of RYR1-related myopathies and sometimes lack of pathognomonic findings that may reduce the diagnostic threshold of this disease. We suggest that the predominance of type 1 fibers and involvement of axial muscles may be an important element to consider the RYR1 gene as candidate
Two new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis
No Abstract
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene
A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD, adding to the diversity of mutational events that give rise to D/BMD.The authors are grateful to the patient and his family for accepting to collaborate in this work. The authors also wish to thank Dr. Stefan White and Yavuz Ariyurek from the Leiden University Medical Center (Netherlands) for facilitating the Single Molecule Real Time (PacBio) sequencing work. A research grant was attributed to J.O. by “Fundo para a Investigação e Desenvolvimento do Centro Hospitalar do Porto” (Grant ref.: 336-13(196-DEFI/285-CES)). The work was also supported by the authors’ Institutions and in part by UMIB, which is funded by “Fundação para a Ciência e Tecnologia (FCT)” under the Pest-OE/SAU/UI0215/2014.info:eu-repo/semantics/publishedVersio
Aplicação da Espectroscopia Fotoacústica nos estudos de solos intactos.
bitstream/CNPDIA-2009-09/12000/1/CT101_2008.pd
Acute ischemic stroke secondary to glioblastoma. A case report
Glioblastoma is a malignant infiltrative glial tumor occurring most often over 50 years of age, with diverse clinical presentations. We describe a case of temporal lobe glioblastoma with a rare presentation as an acute ischemic stroke, discussing the imaging and histopathological findings, and reviewing the literature. A 77-year-old woman had sudden onset of left hemiparesis and hemihypoesthesia. The neuroradiological studies revealed an acute ischemic lesion in the right lenticulostriate arteries territory and a right anterior temporal lobe tumor, enhancing heterogeneously after contrast with enhancement of the right middle cerebral artery wall. Histopathological analysis of the resected temporal lesion revealed a glioblastoma multiforme with tumoral infiltration of the vascular wall. Glioblastoma should be considered in the etiology of acute ischemic stroke, where neuroimaging plays an important diagnostic role, enabling a more immediate therapeutic approach, with a consequent impact on survival
Dysembryoplastic neuroepithelial tumors
Rev Neurol. 2000 Mar 1-15;30(5):436-41.
[Dysembryoplastic neuroepithelial tumors]
[Article in Spanish]
Reis JL, Vasconcelos C, Rangel R, Xavier J, Barroso C, Melo-Pires M, Carvalho E.
Servicio de Neurocirugía, Hospital Geral Santo António, Porto, Portugal. [email protected]
Abstract
INTRODUCTION: The dysembryoplastic neuroepithelial tumors tend to occur in young patients, with partial complex partial seizures which is refractory to medical treatment. These are stable lesions, with defined histological features, specially with clinical data corroboration.
CLINICAL CASES: The clinical, imagiological, operative, and histopathological data of six patients with proved dysembryoplastic neuroepithelial tumors were reviewed. All patients had seizures with age at onset ranged from 7 to 27 years. Five lesions were located in the temporal lobe and one in the parietal lobe. Common features included cortical to subcortical location, low density in CT-scan, very low signal intensity on T1-weighted images and high signal on T2-weighted images. Calcification occurred in two lesions, and three showed contrast enhancement. Complete resection of the tumor was performed in three cases, and subtotal resection in other three cases. Pathological features included oligodendroglial-like cells, glioneural component, and few cases showed dysplastic cortical disorganization. The postoperative period of follow-up ranged from 2 to 18 months. Four patients were seizure free, two of which had subtotal resection of the lesion. The remaining two patients maintained seizures.
CONCLUSIONS: The clinical, imagiological and histopathological data of the six cases presented are generally compatible with those of the reports reviewed by the authors. The imagiological features are nonspecific. Surgical treatment permits histological diagnosis and epilepsy control.
PMID: 10775970 [PubMed - indexed for MEDLIN
Recurrent focal myositis: a rare inflammatory myopathy
Focal myositis is an acute and localized muscle inflammation of unknown aetiology. The clinical diagnosis is often difficult to obtain, since it can be confused with infections, vascular thrombosis or muscle tumours such as sarcomas. This leads to a significant delay in the diagnosis, resulting in the administration of inappropriate and potentially harmful treatments. We report here a case of recurrent focal myositis in a woman where the diagnosis was only obtained after 6 years, despite multiple hospital admissions. This case reinforces the importance of clinical knowledge and experience to tackle challenging medical scenario
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