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1.
Neuropathol Appl Neurobiol ; 48(5): e12817, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35342985

RESUMO

AIMS: We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe the underlying genetic changes. METHODS: We performed whole-exome sequencing on genomic DNA from the patients and their parents and reviewed the clinical, muscle and nerve data, the serial neurophysiological studies, brain and muscle MRIs, as well as the respiratory chain complex activity in the muscle of the three index patients. Computer modelling was used to characterise the new missense variant detected. RESULTS: All three patients had a short stature, delayed motor milestone acquisition, intellectual disability and cerebellar abnormalities associated with a severe demyelinating neuropathy, with distinct morphological features. Despite the proliferation of giant mitochondria, the mitochondrial respiratory chain complex activity in skeletal muscle was normal, except in one patient in whom there was a mild decrease in complex I enzyme activity. All three patients carried the same two compound heterozygous variants of the TRMT5 (tRNA Methyltransferase 5) gene, one known pathogenic frameshift mutation [c.312_315del (p.Ile105Serfs*4)] and a second rare missense change [c.665 T > C (p.Ile222Thr)]. TRMT5 is a nuclear-encoded protein involved in the post-transcriptional maturation of mitochondrial tRNA. Computer modelling of the human TRMT5 protein structure suggests that the rare p.Ile222Thr mutation could affect the stability of tRNA binding. CONCLUSIONS: Our study expands the phenotype of mitochondrial disorders caused by TRTM5 mutations and defines a new form of recessive demyelinating peripheral neuropathy.


Assuntos
Doenças Mitocondriais , Doenças do Sistema Nervoso Periférico , tRNA Metiltransferases , Humanos , Doenças Mitocondriais/patologia , Mutação , Fenótipo , RNA de Transferência , Síndrome , tRNA Metiltransferases/genética
2.
Eur J Neurol ; 28(4): 1356-1365, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33151602

RESUMO

BACKGROUND: Laing myopathy is characterized by broad clinical and pathological variability. They are limited in number and protocol of study. We aimed to delineate muscle imaging profiles and validate imaging analysis as an outcome measure. METHODS: This was a cross-sectional and longitudinal cohort study. Data from clinical, functional and semi-quantitative muscle imaging (60 magnetic resonance imaging [MRI] and six computed tomography scans) were studied. Hierarchical analysis, graphic heatmap representation and correlation between imaging and clinical data using Bayesian statistics were carried out. RESULTS: The study cohort comprised 42 patients from 13 families harbouring five MYH7 mutations. The cohort had a wide range of ages, age at onset, disease duration, and myopathy extension and Gardner-Medwin and Walton (GMW) functional scores. Intramuscular fat was evident in all but two asymptomatic/pauci-symptomatic patients. Anterior leg compartment muscles were the only affected muscles in 12% of the patients. Widespread extension to the thigh, hip, paravertebral and calf muscles and, less frequently, the scapulohumeral muscles was commonly observed, depicting distinct patterns and rates of progression. Foot muscles were involved in 40% of patients, evolving in parallel to other regions with absence of a disto-proximal gradient. Whole cumulative imaging score, ranging from 0 to 2.9 out of 4, was associated with disease duration and with myopathy extension and GMW scales. Follow-up MRI studies in 24 patients showed significant score progression at a variable rate. CONCLUSIONS: We confirmed that the anterior leg compartment is systematically affected in Laing myopathy and may represent the only manifestation of this disorder. However, widespread muscle involvement in preferential but variable and not distance-dependent patterns was frequently observed. Imaging score analysis is useful to categorize patients and to follow disease progression over time.


Assuntos
Miosinas Cardíacas , Doenças Musculares , Teorema de Bayes , Variação Biológica da População , Miosinas Cardíacas/genética , Estudos Transversais , Progressão da Doença , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/genética , Mutação , Cadeias Pesadas de Miosina/genética
3.
Radiographics ; 32(4): 1197-213, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22787002

RESUMO

Middle ear cholesteatoma is a common inflammatory disease that requires surgery due to potentially serious intracranial complications. Diagnosis of cholesteatoma is mainly clinical, with computed tomography (CT) used to evaluate disease extension before surgery. Certain patterns of bone erosion are specific, but CT attenuation does not allow differentiation from other inflammatory middle ear diseases. With its high tissue discrimination and contrast resolution, magnetic resonance imaging is valuable in diagnosis of cholesteatomas. Absent enhancement at delayed postcontrast imaging has been used for diagnosis. Diffusion-weighted imaging (DWI) is highly specific due to the high keratin content of cholesteatomas. New non-echo-planar DWI sequences, such as periodically rotated overlapping parallel lines with enhanced reconstruction, are superior to conventional echo-planar DWI, since they minimize susceptibility artifacts at the skull base and increase sensitivity for detection of lesions as small as 2 mm. This technique is indicated when clinical diagnosis is difficult and high tissue specificity is necessary, as in congenital, temporal bone, or atypical acquired middle ear cholesteatomas and residual or recurrent disease after surgery. Non-echo-planar DWI has been proposed for screening of postsurgical (residual or recurrent) cholesteatomas, thus obviating many second-look revision surgeries, especially after more conservative canal wall up surgery.


Assuntos
Colesteatoma da Orelha Média/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Imagem de Difusão por Ressonância Magnética/tendências , Aumento da Imagem/métodos , Humanos
4.
Neurocirugia (Astur) ; 23(2): 79-88, 2012 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-22578607

RESUMO

INTRODUCTION: Expanded endonasal approaches (EEA) are becoming a first-level technique for the treatment of skull base pathologies. In some cases, the endoscopic procedures make it possible to dissect structures manipulated with greater difficulty in the classic approaches. We report a full endoscopic transpterygoid EEA for the treatment of a fibrous dysplasia (FD) of the skull base. In addition, we reviewed the English literature available on FD and transpterygoid EEA, establishing an exact surgical technique and showing our intraoperative experience. CASE REPORT: A 42-year-old male with right sixth cranial nerve palsy. Cranial MRI and CT showed a central skull base lesion with diagnostic suspicion of FD. Patient underwent a full endoscopic transpterygoid EEA, achieving a wide skull base neurovascular decompression. Neuronavigation and the vidian canal landmark resulted mandatory during intraoperative procedure. DISCUSSION: The transpterygoid EEA is a safe technique consistently supported in the literature. It may reduce the morbidity associated to the classic transcranial approaches, since it permits maximum resection with minimum craniofacial distortion. The vidian hole and canal are the landmarks used to locate and avoid injury to the lacerum segment of the carotid injury. The surgical treatment indication in FD cases must be established in symptomatic patients. CONCLUSION: Transpterygoid EEA for treatment of FD of the skull base is a safe and effective procedure, thanks to the guide that the vidian canal provides in finding the lacerum segment of the carotid artery.


Assuntos
Endoscopia , Base do Crânio , Humanos , Procedimentos Neurocirúrgicos , Nariz , Base do Crânio/cirurgia , Neoplasias da Base do Crânio
5.
Eur J Radiol ; 64(1): 119-25, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17353109

RESUMO

BACKGROUND: Spinal hematomas are rare entities that can be the cause of an acute spinal cord compression syndrome. Therefore, an early diagnosis is of great importance. PATIENTS AND METHODS: From 2001 to 2005 seven patients with intense back pain and/or acute progressive neurological deficit were studied via 1.5 T MRI (in axial and sagittal T1- and T2-weighted sequences). Follow-up MRI was obtained in six patients. RESULTS: Four patients showed the MRI features of a hyperacute spinal hematoma (two spinal subdural hematoma [SSH] and two spinal epidural hematoma [SEH]), isointense to the spinal cord on T1- and hyperintense on T2-weighted sequences. One patient had an early subacute SEH manifest as heterogeneous signal intensity with areas of high signal intensity on T1- and T2-weighted images. Another patient had a late subacute SSH with high signal intensity on T1- and T2-weighted sequences. The final patient had a SEH in the late chronic phase being hypointense on T1- and T2-weighted sequences. DISCUSSION: MRI is valuable in diagnosing the presence, location and extent of spinal hematomas. Hyperacute spinal hematoma and the differentiation between SSH and SEH are particular diagnostic challenges. In addition, MRI is an important tool in the follow-up in patients with conservative treatment.


Assuntos
Hematoma Epidural Espinal/diagnóstico , Hematoma Subdural Espinal/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Medula Espinal/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Radiografia
6.
Acta Otorrinolaringol Esp ; 67(5): 275-81, 2016.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27055380

RESUMO

INTRODUCTION AND OBJECTIVES: Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia. METHODOLOGY: We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05). RESULTS: Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test. CONCLUSIONS: Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation.


Assuntos
Perda Auditiva Neurossensorial/congênito , Nervo Vestibulococlear/anormalidades , Anormalidades Múltiplas , Audiometria de Tons Puros , Limiar Auditivo , Pré-Escolar , Feminino , Perda Auditiva Bilateral/congênito , Perda Auditiva Bilateral/diagnóstico por imagem , Perda Auditiva Bilateral/epidemiologia , Perda Auditiva Bilateral/fisiopatologia , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Unilateral/congênito , Perda Auditiva Unilateral/diagnóstico por imagem , Perda Auditiva Unilateral/epidemiologia , Perda Auditiva Unilateral/fisiopatologia , Testes Auditivos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Prevalência , Sensibilidade e Especificidade , Síndrome , Tomografia Computadorizada por Raios X , Nervo Vestibulococlear/diagnóstico por imagem , Nervo Vestibulococlear/embriologia
7.
Acta Otorrinolaringol Esp ; 66(4): 224-33, 2015.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-25312404

RESUMO

INTRODUCTION: Congenital malformations and acquired lesions of the inner ear are characterised by small structural changes in this region. In recent decades, treatment options have improved considerably. At the same time, there has been a great advancement in diagnostic methods, obtaining high-resolution labyrinth images. Currently, we use a 64-multislice computed tomography scanner in spiral mode (Brilliance 64 Phillips, Eindhoven, the Netherlands), with an overlap of 0.66 mm and an interval of 0.33 mm, 120 KV and 300 mA. The magnetic resonance images were taken with Signa HDxt 1.5 and 3.0 T units (GE Healthcare, Waukesha, WI, USA). We reviewed the radiological features of the lesions affecting the inner ear. They are classified as congenital (labyrinth malformation and statoacoustic nerve deficiencies) or acquired (otospongiosis, labyrinthitis, Ménière's disease, inner ear haemorrhage, intralabyrinthine schwannoma and endolymphatic sac tumour). CONCLUSION: Magnetic resonance imaging and computed tomography play an essential role in diagnosing patients with inner ear pathology. The technique selected should be chosen depending on the clinical setting. In a generic way, tomography is the method of choice for the study of traumatic pathology or otospongiosis. When tumour or inflammatory pathology is suspected, magnetic resonance is superior. In cases of congenital malformation, both techniques are complementary.


Assuntos
Orelha Interna/diagnóstico por imagem , Doenças do Labirinto/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tomografia Computadorizada Multidetectores , Nervo Coclear/anormalidades , Nervo Coclear/diagnóstico por imagem , Anormalidades Congênitas/classificação , Cistadenoma Papilar/diagnóstico por imagem , Progressão da Doença , Neoplasias da Orelha/diagnóstico por imagem , Orelha Interna/anormalidades , Saco Endolinfático/diagnóstico por imagem , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/etiologia , Humanos , Doenças do Labirinto/complicações , Neuroma Acústico/diagnóstico por imagem , Otosclerose/diagnóstico por imagem
8.
Acta Otorrinolaringol Esp ; 63(6): 436-42, 2012.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-23093315

RESUMO

INTRODUCTION AND OBJECTIVES: The diagnosis of cholesteatoma is based on clinical evaluation and computed tomography. New non-echo-planar diffusion-weighted magnetic resonance imaging (MRI) techniques, without intravenous contrast, are capable of differentiating cholesteatoma from inflammatory tissue, cholesterol granuloma and granulation tissues. The technique is very helpful in differential diagnosis of cholesteatoma, mainly after canal wall-up tympanoplasty surgery, to avoid routine second-look surgery in these patients. Congenital cholesteatoma and difficult cases can be detected and correctly diagnosed as well. The aim of this study was to evaluate sensitivity, specificity, positive predictive value and negative predictive value of the diffusion-weighted PROPELLER MRI in cholesteatoma diagnosis. METHODS: A prospective study was performed on 52 patients. Clinical and surgical findings were correlated with diffusion-weighted PROPELLER MRI results. RESULTS: Sensitivity, specificity and positive and negative predictive values were 92.85%, 92.30, 92.85 and 92.30%, respectively. CONCLUSIONS: Diffusion-weighted PROPELLER imaging is an effective technique in cholesteatoma diagnosis. It is capable of detecting lesions larger than 2mm.


Assuntos
Colesteatoma da Orelha Média/diagnóstico , Imagem de Difusão por Ressonância Magnética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Seguimentos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sensibilidade e Especificidade , Adulto Jovem
10.
Acta Otorrinolaringol Esp ; 63(6): 488-90, 2012.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-21963129

RESUMO

We present the case of a 17-month-old male patient with a bilateral Duane syndrome type 1 associated to unilateral cochleovestibular dysplasia, perilymphatic fistula and recurrent meningitis. Diagnosis was carried out by MRI and CT scan. His management and treatment are described, as well as the postoperative evolution. We believe this is an exceptional case due to the low frequency of this syndrome, as well as to the otoneurological complications.


Assuntos
Síndrome da Retração Ocular/complicações , Meningite/etiologia , Humanos , Lactente , Masculino , Recidiva
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