Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances.

PURPOSE: Myotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological, cognitive, and radiological abnormalities. The developmental or degenerative nature of these abnormalities, and their progression over time, remains unclear. The aim of this study is to perform a longitudinal assessment of imaging and cognitive performances in a group of patients with DM1. METHODS: A longitudinal observational study was conducted in a group of 33 DM1 patients. All patients underwent cognitive and MRI evaluation, including the use of structural and diffusion tensor imaging techniques, at baseline and follow-up evaluation (4 years). Longitudinal changes in white matter lesion (WML), volumetric analysis, and diffusivity values were assessed and correlated with neuropsychological test findings. RESULTS: An increase in WML was observed in 16 patients (48.5%). An increase in ventricular system volume and a decrease in volume of the left thalamus, caudates, putamen, and hippocampus were observed (p < 0.001). Global cortical volume showed a significant decrease (p < 0.001), although no changes were observed in white matter volume. A significant increase in mean diffusivity and decrease in fractional anisotropy for the white matter were found (p < 0.001). Neuropsychological evaluation showed a significant deterioration in test performance that measures working memory (Letter-Number Sequencing, p = 0.049) and visuospatial skills (Benton Visual Retention Test, p = 0.001). These findings were significantly associated with WML load (working memory p = 0.002 and visuospatial skills p = 0.021) and mean diffusivity increase (visuospatial skills p = 0.003 in the corpus callosum and working memory p = 0.043 in the right cerebral white matter). CONCLUSION: White matter and grey matter involvement in DM1 patients is progressive. Patients experience a worsening in cognitive impairment that correlates with white matter involvement. These findings support the neurodegenerative nature of this disease.

[Symptomatic xanthogranuloma of the lateral ventricle]. / Xantogranuloma sintomático del ventrículo lateral. A propósito de un caso.

Xanthogranulomas of the choroid plexus is a benign tumour of uncertain etiology, usually asymptomatic. We report a case of symptomatic xanthogranuloma of the left lateral ventricle with edema in adjacent white matter, in a 62-year-old man with seizures.

Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings.

OBJECTIVE: To describe the clinical, biochemical, and neuropathological findings of an autosomal dominant globular glial tauopathy caused by the P301T mutation at the MAPT gene. METHODS: Five patients from two unrelated pedigrees underwent clinical evaluation. Genetic analysis, brain pathological examination, and biochemical analysis of tau were performed. RESULTS: The patients studied were 3 men and 2 women with a mean age at onset of 52.2 years and mean disease duration of 5.2 years. Three patients presented a corticobasal syndrome, one patient an asymmetric pyramidal syndrome compatible with primary lateral sclerosis, and one patient a frontotemporal dementia. In both pedigrees (4 patients) Sanger sequencing showed the p.P301T mutation in exon 10 of the MAPT gene. Neuropathological findings consisted of atrophy of frontal and temporal lobes with marked spongiosis and astrogliosis, and abundant phosphorylated tau protein deposits in the frontal and temporal cortex, limbic area, basal ganglia, and brain stem. The most striking finding was the presence of oligodendroglial 4R phospho-tau globular positive inclusions in the white matter and cortex. Globose-type neurofibrillary neuronal tangles, and in particular astrocytic globular inclusions and coarse tufts, were present in the grey matter. Biochemical analysis of sarkosyl-insoluble fractions revealed two tau bands of 64 and 68 kDa and case-dependent bands of lower molecular weight. CONCLUSION: This is the first pathological and biochemical study of the MAPT p.P301T mutation showing variable clinical manifestation and neuropathological phenotype of globular glial tauopathy not only among different families but also within families.

Brain Involvement in Myotonic Dystrophy Type 1: A Morphometric and Diffusion Tensor Imaging Study with Neuropsychological Correlation.

OBJECTIVE: Myotonic dystrophy type 1 (DM1), the most prevalent inherited neuromuscular disease in adults, is a genetic multisystem disorder with a well-established but not well-characterized cerebral involvement. The aim of this study was to evaluate the presence of white matter and gray matter abnormalities in DM1 patients and to investigate their relationship with neurocognitive dysfunction. METHODS: A total of 42 DM1 patients and 42 healthy controls were included in the study. Clinical, cognitive, and magnetic resonance imaging evaluations, including the use of structural and diffusion tensor imaging (DTI) techniques, were performed. White matter lesion (WML) load, volumetric analysis, and diffusivity changes were assessed and correlated with clinical and neuropsychological test findings. RESULTS: WMLs were significantly more frequent in DM1 patients (p < .001), and anterior temporal lobe lesions were only found in the patient group. Global and regional cortical volume loss and corpus callosum atrophy were found. Diffuse white matter DTI abnormalities, including fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity were observed with sparing of the internal capsule. Subcortical structures showed volume loss and increased median diffusivity. Neuropsychological evaluation showed significant impairment in several cognitive functions, but only visuospatial impairment was correlated with white matter abnormalities and cortical atrophy. Daytime sleepiness was associated with WML and ventral diencephalon and pallidum volume loss. CONCLUSION: DM1 produces a widespread involvement of white matter and gray matter, including cortical and subcortical structures. These structural abnormalities are involved in the progressive neuropsychological functional impairment in these patients.

[Primary CNS Lymphoma: bibliographical review and experience at the Hospital of Navarre in the last 5 years (2000-2004)]. / Linfoma cerebral primario: revisión bibliográfica y experiencia en el Hospital de Navarra en los últimos 5 años (2000-2004).

Primary cerebral lymphoma (Primary CNS Lymphoma, PCNSL) is an aggressive non-Hodgkin lymphoma that originates in the central nervous system without evidence of lymphoma in any other localization at the time of diagnosis. Primary cerebral lymphomas are less well-known and are characterized than their homologues the systemic lymphomas, as they are an entity whose frequency was scarce until a few decades ago. However, the great rise in incidence that this pathology has undergone over the last three decades, and which is still unexplained, makes more studies necessary to better understand the etiopathology of this entity. Thanks to the new systems of treatment, the prognosis of this pathology has improved significantly in recent years. Nonetheless, treatment of primary cerebral lymphoma continues to give rise to numerous controversies at present due to its high neurotoxicity in patients over 60 years of age, a group of patients frequently affected by this pathology. To resolve these and other questions it is necessary to deep in the study of primary cerebral lymphoma and to carry out high quality clinical trials.

EPB41L3, TSP-1 and RASSF2 as new clinically relevant prognostic biomarkers in diffuse gliomas.

Hypermethylation of tumor suppressor genes is one of the hallmarks in the progression of brain tumors. Our objectives were to analyze the presence of the hypermethylation of EPB41L3, RASSF2 and TSP-1 genes in 132 diffuse gliomas (astrocytic and oligodendroglial tumors) and in 10 cases of normal brain, and to establish their association with the patients' clinicopathological characteristics. Gene hypermethylation was analyzed by methylation-specific-PCR and confirmed by pyrosequencing (for EPB41L3 and TSP-1) and bisulfite-sequencing (for RASSF2). EPB41L3, RASSF2 and TSP-1 genes were hypermethylated only in tumors (29%, 10.6%, and 50%, respectively), confirming their cancer-specific role. Treatment of cells with the DNA-demethylating-agent 5-aza-2'-deoxycytidine restores their transcription, as confirmed by quantitative-reverse-transcription-PCR and immunofluorescence. Immunohistochemistry for EPB41L3, RASSF2 and TSP-1 was performed to analyze protein expression; p53, ki-67, and CD31 expression and 1p/19q co-deletion were considered to better characterize the tumors. EPB41L3 and TSP-1 hypermethylation was associated with worse (p = 0.047) and better (p = 0.037) prognosis, respectively. This observation was confirmed after adjusting the results for age and tumor grade, the role of TSP-1 being most pronounced in oligodendrogliomas (p = 0.001). We conclude that EPB41L3, RASSF2 and TSP-1 genes are involved in the pathogenesis of diffuse gliomas, and that EPB41L3 and TSP-1 hypermethylation are of prognostic significance.

[Cystic pancreatic tumours and pseudo-tumoural lesions]. / Tumores quísticos pancreáticos y lesiones pseudotumorales.

Cystic lesions of the pancreas are infrequent, estimated at only some 1% of all pancreatic tumours and at some 10% of all pancreatic cysts. The pre-operational diagnosis is important for a suitable treatment, with valuable radiological techniques available today such as ultrasound, computerised tomography and magnetic resonance. In spite of this we have to accept that we are facing a group of tumours whose diagnosis is difficult, due to the great variety of cellular types existing within them.

[Pulse rate of the venous wave in the eco-Doppler study of the lower extremities as a sign of elevated pressure in the right atrium]. / Pulsatilidad de la onda venosa en el estudio eco-doppler de extremidades inferiores como signo de elevación de la presión en la aurícula derecha.

AIM: The aim of this study is to determine the nature of venous flow in the lower extremities, as well as to correlate the velocity of the flow with average vein pressure in the right atrium. MATERIAL AND METHODS: Over a period of one year 236 pulsated Doppler echographs were made of patients, bearers of a venous catheter located in the right atrium. The patients were in a supine lying position and breathing gently. The lines of the Doppler wave were used to analyse the frequency of the wave, the components of its velocity, the relationships of velocity and the existence of pulsatile flow. These parameters were compared with the pressure in the right atrium. RESULTS: The study showed a cardiac and respiratory periodicity of the venous wave. A statistically significant correlation (p<0.0001) was found between average venous pressure in the right atrium and the following variables: the systolic atrium wave (a), the diastolic atrium wave (d), the relation of pulsatility (RP=Velocity min/Velocity max) and the index of pulsatility (IP=[Velocity max-Velocity min]/Velocity average). CONCLUSION: There is an inverse and significant relationship between pulsatile flow and atrium pressure. Nonetheless, although a relation exists between the different components of the venous wave, an elevation in central vein pressure cannot be predicted.

[The role of diffusion-weighted imaging in the evaluation of meningiomas: radio-pathologic correlation]. / Papel de la difusión en la evaluación de los meningiomas: correlación radiopatológica.

OBJECTIVE: To study the behavior of meningiomas in diffusion-weighted sequences and the correlation of these findings with the histological findings. MATERIAL AND METHODS: We prospectively included all patients operated on for meningiomas at our hospital during two years. We studied 30 meningiomas in 28 patients aged 31 to 85 years old. All patients underwent MRI prior to surgery, including diffusion-weighted sequences, in a 1.5 T scanner. We evaluated the signal intensity in T2-weighted images, diffusion-weighted images (b=1,000), and apparent diffusion coefficient (ADC) maps within the tumor and in the parietal white matter as a reference. In the histological study, cellularity, proliferation index, histological grade, and cerebral invasion were evaluated. RESULTS: Of the 30 meningiomas, 22 were World Health Organization (WHO) grade I and 8 were atypical or WHO grade II. The overall mean value of the ADC was 89.19+/-13.95x10(-3) mm2/s; the mean ADC value was 82+/-13.69x10(-3) mm2/s in the atypical group and 92.21+/-13.21x10(-3) mm2/s in the typical group. No statistically significant differences were found between the 2 groups. Two subtypes of typical meningiomas, secretory and angiomatous meningiomas, had the highest values in the ADC maps. In the histological analysis, there was a significant association between tumor cellularity and the signal in the ADC map. CONCLUSION: Meningiomas show moderately restricted diffusion. The signal on the ADC map is associated with tumor cellularity but we have not demonstrated its usefulness for predicting the histological grade.

[Cocaine-induced brain stem stroke associated to craneal midline destructive lesions]. / Ictus de tronco asociado a lesiones destructivas de línea media craneal inducidas por cocaína.

INTRODUCTION: Abuse of cocaine and other sympathomimetic drugs has been reported as a significant risk factor for stroke. The physiopathologic mechanisms implicated are multifactorial. Chronic cocaine use leads to extensive destruction of osteocartilaginous structures of nose, sinuses and palate. CASE REPORT: We report the case of a 56 years-old woman with hypertension and smoke abuse who was admitted with a pontine paramedian infarction. Cranial resonance findings of midline destructive lesions lead to the suspicion of chronic cocaine consumption. The initial outcome was good but she was re-admitted nine months later with an extent pontomesencephalic infarction. CONCLUSIONS: Abuse of cocaine is a risk factor for stroke that should be considered not only in young patients. The pathogenic relationship between stroke and midline cocaine related destructive lesions is discussed.

Solitary thoracic intradural extramedullary plasmacytoma.

The bodies of the vertebrae are common locations for plasma cell diseases such as multiple myeloma and solitary plasmacytoma. Secondary invasion of the epidural space is infrequent but can cause neurological symptoms. Spinal cord compression due to pure intradural plasma cell infiltration is very rare. The authors report a 25-year-old woman who developed a progressive difficulty in walking due to a solitary spinal dural plasmacytoma. This is the first reported example in the English language literature of a purely intradural spinal plasmacytoma in a patient without other myelomatous lesions. An entirely intradural solitary plasmacytoma has a relatively better prognosis.

Carpal tunnel syndrome: usefulness of sonography.

The aim of this study was to evaluate sonographic signs described for carpal tunnel syndrome (CTS). Sixty-four wrists from 40 patients with CTS confirmed by electromyography, and 42 wrists from 24 healthy individuals, were examined using sonography. Cross-sectional area, flattening ratio in proximal, middle and distal segments of the carpal median nerve and bowing of the flexor retinaculum were measured. The accuracies of the sonographic diagnostic criteria for CTS were assessed using receiver-operating-characteristic (ROC) analytical techniques. A significant swelling of the median nerve was observed at the proximal (p < 0.001), middle (p < 0.0001) and distal (p< 0.0001) segments and a significant bowing of the flexor retinaculum in CTS patients with respect to healthy subjects. No significant differences were found in the mean value of flattening ratio between the groups. The sensitivity, specificity, positive predictive value, and the negative predictive value were 73.4, 57.1, 72.3 and 58.5%, respectively, in the proximal and middle segments; 75, 57.1, 72.7 and 60% in the distal segment for areas greater than 11 mm2: and 81.3, 64.3, 77.6 and 69.2% for the bowing of the flexor retinaculum greater than 2.5 mm. All sonographic criteria were found in 34 CTS patients (53.1%) and none in 3 patients. Sonography may be useful in the diagnosis of CTS. The most reliable sign was increased bowing of the flexor retinaculum and cross-sectional area of median nerve with specificity close to 60%.

False aneurysm of the femoral artery as a late complication of an intertrochanteric fracture. A case report.

False aneurysms of the femoral vessels are an important, but rare, complication after an intertrochanteric fracture of the femur. The diagnosis is usually delayed, because pain, a haematoma and unexplained anaemia are the nonspecific clinical signs. Early diagnosis by duplex and colour Doppler ultrasound is a good alternative to arteriography or magnetic resonance imaging.

Cysts of the tunica albuginea: sonographic appearance.

OBJECTIVE: Testicular cysts of the tunica albuginea are an uncommon phenomenon, important because of their possible confusion with testicular tumors. Accurate diagnosis may avoid aggressive and irreversible treatment such as testicular ablation. The purpose of this study is to report our experience in such diagnosis through sonographic detection of albuginea cysts. CONCLUSION: Sonography is the technique of choice in the diagnosis of any testicular tumor formation, allowing the differentiation of cysts from neoplasia and avoiding unnecessary intervention in patients with cysts of the tunica albuginea.