Subject(s)
Lipodystrophy/diagnostic imaging , Lipodystrophy/pathology , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/pathology , Subacute Sclerosing Panencephalitis/diagnostic imaging , Subacute Sclerosing Panencephalitis/pathology , Adult , Humans , Magnetic Resonance Imaging , Male , Tomography, X-Ray ComputedABSTRACT
Inflammatory orbital complications of strabismus surgery are a rare occurrence. They include cellulitis, subconjunctival and sub-Tenon's abscesses, myositis, and endophthalmitis. The incidence of periocular infection is assumed to be one case per 1,100 surgeries. In this report, we describe a case of sub-Tenon's abscess after strabismus surgery.
Subject(s)
Abscess/etiology , Endophthalmitis/etiology , Esotropia/surgery , Ophthalmologic Surgical Procedures/adverse effects , Surgical Wound Infection/diagnostic imaging , Abscess/diagnostic imaging , Child, Preschool , Endophthalmitis/diagnostic imaging , Humans , Male , Tomography, X-Ray ComputedABSTRACT
Magnetic resonance imaging (MRI), diffusion tensor imaging (DTI), and MR spectroscopy (MRS) data were obtained in a patient with giant axonal neuropathy (GAN) and compared to a control group. Fractional anisotropy (FA) and apparent coefficient diffusion (ADC) data were obtained from specific white matter tracts including the corticospinal tracts (CST), corpus callosum (CC), optic radiations (OR), and middle cerebellar peduncle (MCP). Analysis of the MRS was performed. DTI parameters and MRS results were correlated with the neuropathological findings described for GAN. No significant difference between the FA of the CC of the patient and the control group was found. However, there was a significant difference between the FA of the CST, OR, and MCP of the patient and the control group. The ADC values for all tracts of the patient were significantly increased. N-acetylaspartate to creatine (NAA/Cr) and N-acetylaspartate to choline (NAA-Cho) (choline) metabolite ratios were slightly decreased and choline to creatine (Cho/Cr) and myo-inositol to creatine (Ins/Cr) metabolite ratios were increased in the parietal gray and white matter of the patient as compared to the control group. Cerebellar involvement was less evident. The DTI and MRS findings suggest myelin and axonal damage.
Subject(s)
Diffusion Magnetic Resonance Imaging , Heredodegenerative Disorders, Nervous System/diagnosis , Magnetic Resonance Spectroscopy , Anisotropy , Aspartic Acid/analogs & derivatives , Aspartic Acid/analysis , Brain Chemistry , Child , Choline/analysis , Corpus Callosum , Creatinine/analysis , Humans , Inositol/analysis , Male , Pyramidal Tracts , Spinal Cord/chemistry , Superior ColliculiSubject(s)
Brain Neoplasms/pathology , Calcinosis/pathology , Central Nervous System Cysts/pathology , Hereditary Central Nervous System Demyelinating Diseases/pathology , Magnetic Resonance Imaging , Tomography, X-Ray Computed , Adult , Ataxia/etiology , Brain Neoplasms/diagnostic imaging , Calcinosis/diagnostic imaging , Central Nervous System Cysts/diagnostic imaging , Dementia/etiology , Dysarthria/etiology , Female , Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging , Humans , Muscle Spasticity/etiologyABSTRACT
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is caused by mutations in the gene MLC1, which encodes a novel protein, MLC1. Since the first report, 50 mutations in this gene have been found. Mutations occur throughout the entire coding region and include all different types: 11 splice-site mutations; one nonsense mutation; 24 missense mutations; and 14 deletions and insertions. Until now, six polymorphisms within the coding sequence of MLC1 had been reported. In about 20% of the patients with a typical clinical and MRI picture, no mutations in the MLC1 gene are found. Several of the families, in which no mutations are found, also do not show linkage with the MLC1 locus, which suggests a second gene involved in MLC. The absence of mutations may also be the consequence of performing standard mutation analysis that can miss heterozygous deletions, mutations in the promoter, 3' and 5' untranslated regions (UTRs), and intron mutations, which may influence the amino acid composition of the end product. In this work we describe 13 novel mutations, including those found with extended mutation analysis on MLC patients. This study shows that extended mutation analysis is a valuable tool to identify at least some of the missing mutations. Therefore, we suggest extended mutation analysis for the MLC1 gene, if no mutations are found during standard analysis.
Subject(s)
Brain Diseases/genetics , Brain Neoplasms/genetics , Central Nervous System Cysts/genetics , Hereditary Central Nervous System Demyelinating Diseases/genetics , Membrane Proteins/genetics , Telencephalon/abnormalities , Base Sequence , Brain Diseases/diagnosis , Brain Neoplasms/diagnosis , Central Nervous System Cysts/diagnosis , DNA Mutational Analysis , Founder Effect , Genetic Linkage , Head/abnormalities , Hereditary Central Nervous System Demyelinating Diseases/diagnosis , Humans , Membrane Proteins/chemistry , Membrane Proteins/metabolism , Molecular Sequence Data , Mutation , Polymorphism, Genetic , RNA Splice Sites , Sequence Analysis, ProteinABSTRACT
Os autores analisam as condiçöes de encaminhamento e tratamento de 30 pacientes portadores de traumatismo craniencefálico (TCE) grave (Escola de Coma de Glasgow igual ou menor do que 9), acidentados dentro do Distrito Federal e atendidos na Unidade de Neurocirurgia e Politraumatizados do Pronto Socorro do Hospital de Base. Foi possível identificar os TEMPOS, os PROCEDIMENTOS e SITUAÇOES CRITICAS a que se submeteram estes pacientes desde o momento do acidente até a definiçäo do tratamento e as respectivas taxas de mortalidade. A admissäo na unidade de Neurocirurgia ocorreu, em média, após 58 minutos e o início da cirurgía, nos casos operados, ocorreu ao final da segunda hora após o acidente. Na hora pré-neurocirúrgica, foi importante a organizaçäo da comunidade e Serviços de Saúde no salvamento e transporte da vítima. Situaçöes críticas nesta fase estäo associadas à taxa de 86% de mortalidade. Na hora neurocirúrgica, foram importantes a seqüência e o tempo nos procedimentos de atendimento, realizaçäo de exames complementares e procedimentos de cirurgía e de enfermaria. Situaçöes críticas nesta fase estäo associadas a traxa de 64% de mortalidade. Para obter uma "janela" ideal e o tratamento adequado do TCE, e necessário: abreviar o início da assistência, utilizar um protocolo definido, diagnosticar e tratar as complicaçöes em tempo hábil, monitorizar a funçäo cerebral e reavaliar criticamente a experiência adquirida na unidade