Assuntos
Síndrome de Churg-Strauss/complicações , Doenças Desmielinizantes/complicações , Polineuropatias/complicações , Síndrome de Churg-Strauss/patologia , Síndrome de Churg-Strauss/fisiopatologia , Síndrome de Churg-Strauss/terapia , Doenças Desmielinizantes/patologia , Doenças Desmielinizantes/fisiopatologia , Doenças Desmielinizantes/terapia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Polineuropatias/patologia , Polineuropatias/fisiopatologia , Polineuropatias/terapia , Nervo Sural/patologia , Nervo Sural/fisiopatologiaAssuntos
Creatina Quinase/metabolismo , Hidroxicloroquina/efeitos adversos , Doenças Musculares/diagnóstico , Síndromes Neurotóxicas/diagnóstico , Recuperação de Função Fisiológica/fisiologia , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Doenças Musculares/fisiopatologia , Síndromes Neurotóxicas/fisiopatologiaRESUMO
Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.
Assuntos
Leucodistrofia de Células Globoides/complicações , Doenças do Sistema Nervoso Periférico/etiologia , Adulto , Biópsia , Encéfalo/patologia , Transtornos Cognitivos/etiologia , Feminino , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/patologia , Galactosilceramidase/genética , Humanos , Leucodistrofia de Células Globoides/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/patologiaRESUMO
Parsonage-Turner syndrome (PTS) is a relatively rare cause of upper extremity weakness and pain. There is currently no effective treatment for PTS although corticosteroids are recommended. Here we report the case of a man with acute PTS and exceptional involvement of both saphenous nerves, advantageously treated with intravenous immunoglobulin.
Assuntos
Neurite do Plexo Braquial/complicações , Ombro , Adulto , Eletromiografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Condução Nervosa/fisiologiaRESUMO
Even after the introduction of new antiepileptic drugs, phenobarbital continues to be largely used in the treatment of epilepsy. We report the case of a 59-year-old woman with focal seizures with secondary generalization, treated with phenobarbital with normal serum levels. After thirty days she showed Sjogren-like symptoms, which resolved after the replaced of phenobarbital with oxcarbazepine. Although many antiepileptic drugs are known to induce autoimmune disorders, a "Sicca Syndrome" has never been reported as an adverse effect of phenobarbital. We think this case report leads to take into consideration the possibility of a drug-induced disorder whenever patients treated with barbiturates develop symptoms suggestive of Sjogren's Syndrome.
Assuntos
Anticonvulsivantes/efeitos adversos , Fenobarbital/efeitos adversos , Síndrome de Sjogren/induzido quimicamente , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To evaluate the role of apoptosis in the pathogenesis of brain lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary microangiopathy leading to cognitive decline and dementia, caused by mutations in the NOTCH3 gene. MATERIALS AND METHODS: Detection of apoptotic nuclei in temporal lobe, brain stem, medulla oblongata, hippocampus and basal ganglia from one young CADASIL patient was performed by terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end-labeling (TUNEL). RESULTS: Our results showed a great involvement of glial cells in apoptotic cell death in the majority of the brain regions examined; neuronal apoptosis was significantly present only in the brain stem region. CONCLUSIONS: We hypothesized that in the early stages of the disease neuronal involvement of apoptosis is limited to the cells of the brain stem, sparing the cortical area which is involved in neuronal apoptosis and cognitive decline later.
Assuntos
Apoptose , Encéfalo/patologia , CADASIL/patologia , Adulto , DNA Nucleotidilexotransferase , Evolução Fatal , Humanos , Marcação In Situ das Extremidades Cortadas , Neuroglia/patologia , Neurônios/patologia , Inclusão em Parafina , FotomicrografiaRESUMO
INTRODUCTION: The aim of this prospective study is to verify, in terms of both early postoperative complications and intraocular pressure (IOP) outcomes, the performance of a scleral flap removable suture. MATERIALS AND METHODS: Sixty-six patients that underwent trabeculectomy were randomly divided into two groups: in the first group (group A, 33 eyes) a standard fornix-based trabeculectomy was performed by using a conjunctival chain suture. In the second group (group B, 33 eyes) the same technique was performed with the additional employment of a new removable suture to the scleral flap. The patients were followed-up for 12 months. RESULTS: After 1 year the mean IOP was 16.58 mmHg (+/-3.73 mmHg) in group A, and 16.12 mmHg (+/-4.21 mmHg) in group B; statistical analysis did not show significant differences between the two groups (P = 0.19). Early postoperative hypotony and shallowing of the anterior chamber were significantly more frequent after standard trabeculectomy than after trabeculectomy using the removable suture (P < 0.02). CONCLUSIONS: The employment of a fornix-based conjunctival chain suture for the flap allows the use of the removable scleral flap suture, which has proved very effective in preventing insufficient flap resistance with aqueous overdrainage and hypotony, and which is also easy to apply and to remove. Compared with standard trabeculectomy, this device has proved to have similar IOP-lowering efficacy, together with a lower rate of early postoperative complications.
Assuntos
Glaucoma de Ângulo Aberto/cirurgia , Técnicas de Sutura , Trabeculectomia/instrumentação , Trabeculectomia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Câmara Anterior/patologia , Feminino , Glaucoma de Ângulo Aberto/patologia , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pressão Intraocular , Masculino , Microscopia Acústica , Pessoa de Meia-Idade , Hipotensão Ocular/etiologia , Complicações Pós-Operatórias , Período Pós-Operatório , Esclera/cirurgia , Retalhos Cirúrgicos/patologiaRESUMO
We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G>A substitution in position 12316 of tRNA(Leu(CUN)) gene. This change destroys a highly conserved G-C base coupling in tRNA TpsiC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy in different patient's tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA(Leu(CUN)) pathogenic mutation described up to date.
Assuntos
DNA Mitocondrial/genética , Mutação , Oftalmoplegia Externa Progressiva Crônica/genética , RNA de Transferência de Leucina/genética , Análise Mutacional de DNA , Feminino , Humanos , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Oftalmoplegia Externa Progressiva Crônica/patologiaRESUMO
PURPOSE: To evaluate the long-term results of air-guided manual deep anterior lamellar keratoplasty (DALK) and to perform confocal microscopy on postoperative DALK corneas. METHODS: Seven postoperative consecutive DALK corneas were evaluated 1 year after suture removal. All patients underwent a complete ophthalmologic examination evaluating visual acuity, astigmatism, corneal thickness, and endothelial cell count. Confocal microscopy was performed to examine the corneas of the seven eyes and to obtain the measured interface depth. RESULTS: Eighteen months after surgery, the mean postoperative uncorrected visual acuity was 20/38 and the mean best-corrected visual acuity was 20/23. Postoperative mean value of residual recipient stroma thickness was 65.57 microm +/- 28.74. CONCLUSIONS: Maximum depth DALK can lead to significant advantages for quality of vision when compared to other types of anterior lamellar keratoplasty. Still, it remains a challenging procedure. These results show that a deep dissection without baring Descemet membrane makes good visual results possible, preventing corneal perforation and conversion to penetrating graft.
Assuntos
Transplante de Córnea/métodos , Endotélio Corneano/patologia , Microscopia Confocal , Adulto , Ar , Contagem de Células , Córnea/inervação , Substância Própria/inervação , Substância Própria/patologia , Endotélio Corneano/transplante , Feminino , Seguimentos , Humanos , Ceratocone/cirurgia , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Nervo Oftálmico/patologia , Resultado do Tratamento , Acuidade VisualAssuntos
Biópsia , CADASIL/diagnóstico , Pele/ultraestrutura , Túnica Média/ultraestrutura , Adulto , Idoso , Arteríolas/química , Arteríolas/ultraestrutura , Encéfalo/irrigação sanguínea , CADASIL/genética , CADASIL/patologia , Corantes , Análise Mutacional de DNA , Éxons/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Especificidade de Órgãos , Receptor Notch3 , Receptores Notch/genética , Sensibilidade e Especificidade , Pele/irrigação sanguínea , Túnica Média/químicaAssuntos
Cromossomos Humanos Par 19/genética , Mutação de Sentido Incorreto/genética , Distrofia Miotônica/genética , Distrofia Miotônica/patologia , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Adulto , Cromatografia Líquida de Alta Pressão , Evolução Fatal , Feminino , Humanos , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
We report the case of a 64-year-old female patient with hepatitis C infection (HCV), who developed Sjögren's disease and sensory peripheral neuropathy. Clinical conditions worsened over three years with central nervous system involvement characterised by transient third cranial nerve paresis and mild selective impairment of attention and memory. Brain magnetic resonance imaging showed diffuse periventricular and lobar white matter hyperintensity. Laboratory findings included mixed cryoglobulinaemia (type II), cryocrit 1.47%, low serum levels of complement C4 and high levels of rheumatoid factor, HCV 1b genotype, high HCV mRNA levels in serum and cerebrospinal fluid. Skin biopsy showed evidence of vasculitis. After one year of plasmapheresis, immunosuppressant therapy and occasional corticosteroid treatment, neurological symptoms improved, skin biopsy changed and inflammation parameters normalised, suggesting that neurological symptoms might be related to the high levels of mixed cryoglobulins.
Assuntos
Hepatite C/complicações , Doenças do Sistema Nervoso Periférico/etiologia , Síndrome de Sjogren/etiologia , Feminino , Hepatite C/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/patologia , Síndrome de Sjogren/patologiaAssuntos
Deficiência Intelectual/patologia , Dissinergia Cerebelar Mioclônica/patologia , Distúrbios Pupilares/patologia , Adulto , Biópsia , Eletromiografia , Família , Pai , Feminino , Humanos , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Dissinergia Cerebelar Mioclônica/genética , Pais , Distúrbios Pupilares/genéticaRESUMO
The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.
Assuntos
Demência Vascular/diagnóstico , Demência Vascular/genética , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/genética , Fator de Iniciação 2B em Eucariotos/genética , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/genética , Pré-Escolar , Demência Vascular/complicações , Doenças Desmielinizantes/complicações , Predisposição Genética para Doença/genética , Humanos , Masculino , Doenças do Sistema Nervoso Periférico/complicaçõesRESUMO
PURPOSE: To report a case of bilateral retinocytoma associated with calcified vitreous deposits. METHODS: Case report. RESULTS: On routine examination, a 35-year-old asymptomatic father of a child with bilateral retinoblastoma presented bilateral retinocytoma associated with vitreous calcifications, in the vicinity of the retinocytoma in his left eye. Fundus photographic documentation and fluorescein angiography were performed. The patient has been followed up for 10 years. CONCLUSIONS: The lesions in both eyes have remained stable without signs of growth or malignant transformation. Calcified vitreous deposits are a recently described feature of retinocytoma in addition to the three classic features: translucent retinal mass, retinal pigment epithelial alteration, and calcification.
Assuntos
Calcinose/patologia , Oftalmopatias/patologia , Neoplasias da Retina/patologia , Retinoblastoma/patologia , Corpo Vítreo/patologia , Adulto , Atrofia , Angiofluoresceinografia , Seguimentos , Humanos , Masculino , Epitélio Pigmentado Ocular/patologiaAssuntos
Ciclofosfamida/administração & dosagem , Imunossupressores/administração & dosagem , Vasculite Associada ao Lúpus do Sistema Nervoso Central/terapia , Plasmaferese , Doenças da Medula Espinal/terapia , Feminino , Seguimentos , Humanos , Vasculite Associada ao Lúpus do Sistema Nervoso Central/complicações , Pessoa de Meia-Idade , Pulsoterapia , Doenças da Medula Espinal/etiologiaRESUMO
Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is more common than previously thought. Deposits of granular osmiophilic material (GOM) have been shown in the wall of retinal arterioles, though retinal infarcts and vascular occlusions have never been reported. Ischaemic optic neuropathy, on the other hand, has been reported in one case of CADASIL but no pathology reports of the optic nerve have been published. Here we report optic nerve morphological findings in the autopsy material of a 41-year-old woman with genetically assessed CADASIL. Longitudinal and transverse sections of optic nerves were examined. Classical histological methods (haematoxylin-eosin and Nissl) were performed. Diffuse pallor of myelin and rarefaction of optic nerve fibres were observed. Classical GOM was evident in the tunica media of vessels in the meninges and white matter. Arteriole lumina were slightly narrowed. In conclusion, the typical pathological changes of CADASIL occur in the optic nerve and may contribute to impairment of visual function in CADASIL.
Assuntos
CADASIL/patologia , Nervo Óptico/patologia , Adulto , Evolução Fatal , Feminino , Humanos , Bainha de Mielina/patologia , Fibras Nervosas/patologiaAssuntos
Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/patologia , Predisposição Genética para Doença/genética , Nervos Periféricos/patologia , Adulto , Biópsia , Doença de Charcot-Marie-Tooth/fisiopatologia , Diagnóstico Diferencial , Feminino , Humanos , Cariotipagem , Fibras Nervosas Mielinizadas/patologia , Nervos Periféricos/fisiopatologia , Nervo Sural/patologia , Nervo Sural/fisiopatologia , Degeneração Walleriana/genética , Degeneração Walleriana/patologia , Degeneração Walleriana/fisiopatologiaRESUMO
Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symptoms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.