Prevalence of Intracranial Aneurysms in Hereditary Hemorrhagic Telangiectasia: Report from a Single Reference Center.

BACKGROUND AND PURPOSE: Neurologic manifestations in hereditary hemorrhagic telangiectasia include an increased incidence of brain abscesses and ischemic strokes due to paradoxic embolization in addition to a wide spectrum of symptoms and complications due to typical brain vascular malformations. Intracranial aneurysms are not part of this brain vascular malformation spectrum. The aim of this study was to determine their prevalence in patients with hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS: This was a single-center, retrospective study. Adult patients from the institutional Hereditary Hemorrhagic Telangiectasia registry with a definitive diagnosis of hereditary hemorrhagic telangiectasia and an available report or angiographic imaging study were included and reviewed to determine the intracranial aneurysm prevalence. In addition, the morphologic characteristics of intracranial aneurysms and possible associated risk factors were collected. RESULTS: Two hundred twenty-eight patients were analyzed. Thirty-seven aneurysms in 33 patients (14.5%; 95% CI, 9.9%-19%) were found. The median diameter of intracranial aneurysms was 3.2 mm (interquartile range, 2.6-4.4 mm). No association between intracranial aneurysm and sex, age, or genetic background was noted. There were no subarachnoid hemorrhagic events due to intracranial aneurysm rupture. CONCLUSIONS: Due to the high prevalence of intracranial aneurysms in adult patients with hereditary hemorrhagic telangiectasia, further studies regarding bleeding risks and monitoring should be addressed.

Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia.

BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved. Additionally, Mn shares iron absorption mechanisms, transferrin and CNS transferrin receptors. In iron deficiency conditions, the Mn may harbor transferrin and access BG. The objectives were to describe frequency of BG Mn deposit-induced lesions (BGMnIL) in HHT patients, its relationship with iron deficiency anemia (IDA) and HVMs. Finally, explore the association between neuropsychological and motor consequences. We performed a cross-sectional study. We determined HHT patients with or without BG-MnIL by the MRI screening of the CNS. We included all patients with lesions and a random sample of those without lesions. All patients underwent standardized and validated neuropsychological assessment to evaluate BG actions. Results were analyzed with multiple logistic regression, adjusting for potential confounders. RESULTS: Among 307 participants from a cohort included in the Institutional HHT Registry, 179 patients had MRI performed and Curaçao Criteria ≥3. The prevalence of BG-MnIL was 34.6% (95%CI 27.69-42.09). While neuropsychological symptoms were present in all patients, BG-MnIL patients performed poorly in three of the neuropsychological tests (serial dotting, line tracing time, number connection test A). HVMs frequency in BG-MnIL was 95.1%, versus 71.4% in those without lesions (p < 0.001). IDA frequency was 90.3% versus 54% (p < 0.001). When IDA is present, estimated risk for BG-MnIL is remarkably high (OR 7.73, 95%CI 2.23-26.73). After adjustment for possible confounders (gender, age, presence of HVMs), IDA was still associated with increased risk of BG-MnIL (adjusted OR 6.32, 95% CI 2.32-17.20; p < 0.001). CONCLUSIONS: Physicians should assess BG-MnIL in HHT patients in CNS-MRI. IDA and HVMs present increased risk of lesions. Patients with BG-MnIL have neuropsychological impairment, and they might benefit from sparing IDA, or undergoing future therapeutic options. TRIAL REGISTRATION: NCT01761981 . Registered January 3rd 2013.

Brain structural changes in patients in the early stages of multiple sclerosis with depression.

Some studies suggest an inflammatory mechanism associated with the presence of depression in multiple sclerosis (MS); however, there is little data concerning these findings. The purpose of this study was to investigate the presence of brain structural changes in patients with MS and depression and to compare them with patients suffering from MS without depression and healthy controls. METHODS: A case-control study that included patients with relapsing-remitting MS (RRMS) defined by validated criteria, over 18 years of age, with less than three years from disease onset, EDSS ≤ 3, with no history of previous depression and under immunomodulatory treatment with interferon beta, if any. A control group paired by age and gender was also included. Patients were clinically assessed to determine the presence of depression. Demographic clinical and structural aspects of parameters from the scan, such as lesion volume, total brain volume (TBV), white matter volume (WMV), neocortical gray matter volume (NGMV), and fractional anisotropy (FA) were analyzed. RESULTS: Sixty-five individuals were enrolled: 20 healthy controls, 22 patients with MS without depression, and 23 patients with MS with depression. Patients with MS and depression showed a lower TBV (P = 0.01), NGMV (0.01) together with an increase in lesion burden in T2 (P < 0.01) but not in T1 (P = 0.09) and no differences in global FA among groups (P = 0.23) and in WMV (P = 0.12). CONCLUSION: Patients with RRMS and depression had a reduced total brain volume and a significantly increased lesion burden at T2 MR than patients with RRMS without depression.

Espectroscopia y difusión por resonancia magnética para la caracterización del linfoma del sistema nervioso central / Central nervous system lymphomas characterization by MR spectroscopy and diffusion-weighted imaging

OBJETIVO: Mostrar los hallazgos de la resonancia magnética (RM) de cerebro, convencional y con técnicas funcionales (difusión y espectroscopia), del linfoma del sistema nervioso central (SNC), haciendo énfasis en los aportes que permiten aproximarse al diagnóstico y diferenciar la entidad de otros tumores. MATERIALES Y MÉTODOS: Desde junio de 2008 hasta enero de 2012, se estudiaron 26 pacientes inmunocompetentes con diagnóstico de tumor del SNC, confirmado por anatomía patológica. En todos los casos se realizó, antes de la cirugía o de la toma de biopsia, una RM convencional de cerebro con gadolinio y técnicas funcionales. Se incluyeron 26 pacientes inmunocompetentes: 13 hombres y 13 mujeres. Ocho tuvieron diagnóstico de linfoma primario del SNC y los 18 restantes presentaron otros tumores: glioblastoma con centro necrótico (n= 9), oligoastrocitoma anaplásico (n= 3), metástasis con necrosis (n=4) y meduloblastoma (n=2). De las 26 lesiones, 10 (8 linfomas y 2 medublastomas) mostraron restricción de la difusión, en coincidencia con la alta celularidad tumoral de ambas entidades histológicas. En el análisis espectral de los tumores, todos tuvieron un incremento de la curva de lípidos. El pico en los linfomas y meduloblastomas ocurrió en los sitios sólidos, mientras que en las demás lesiones los lípidos se observaron en los sitios de necrosis tumoral. CONCLUSIÓN: El análisis de las secuencias de RM convencional sin y con contraste endovenoso, junto con las técnicas de difusión y espectroscopia, permite aproximarse al diagnóstico de linfoma de SNC.

PURPOSE: To show the imaging findings in cases of central nervous system (CNS) lymphoma with conventional and functional (diffusion and spectroscopy) magnetic resonance imaging (MRI) techniques, emphasizing the contributions that advanced imaging techniques provides to improve the diagnostic accuracy and rule out other tumors. MATERIALS AND METHODS: Between June 2008 and January 2012 we studied 26 inmunocompetent patients with diagnosis of central nervous system tumor, confirmed by pathology. These patients performed a brain MRI with conventional and functional techniques (diffusion and spectroscopy) and with gadolinium before surgery or biopsy. RESULTS: We included 26 inmunocompetent patients, 13 men and 13 women. Eight patients with diagnosis of primary CNS lymphoma and 18 with other tumors: glioblastoma (n=9), anaplastic oligoastrocytoma (n=3), metastases with necrosis (n=4), and medulloblastoma (n=2). Ten of the 26 lesions showed restricted diffusion, this happened in all lymphomas and in both medulloblastomas. This is due to the high cellularity of the tumors. Spectroscopy showed increased lipids in all tumors. The difference among the tumors was the place of the measurement of lipids. Both medulloblastoma and lymphomas showed a lipid peak in the solid portion of the tumor while the remaining tumors showed lipids in the necrotic areas. CONCLUSION: The combination of conventional and functional MRI techniques with intravenous contrast improve the diagnostic accuracy of CNS lymphoma.

Espectroscopia y difusión por resonancia magnética para la caracterización del linfoma del sistema nervioso central

Objetivo: Mostrar los hallazgos de la resonancia magnética (RM) de cerebro, convencional y con técnicas funcionales (difusión y espectroscopia), del linfoma del sistema nervioso central (SNC), haciendo énfasis en los aportes que permiten aproximarse al diagnóstico y diferenciar la entidad de otros tumores. Materiales y métodos: Desde junio de 2008 hasta enero de 2012, se estudiaron 26 pacientes inmunocompetentes con diagnóstico de tumor del SNC, confirmado por anatomía patológica. En todos los casos se realizó, antes de la cirugía o de la toma de biopsia, una RM convencional de cerebro con gadolinio y técnicas funcionales. Resultados: Se incluyeron 26 pacientes inmunocompetentes: 13 hombres y 13 mujeres. Ocho tuvieron diagnóstico de linfoma primario del SNC y los 18 restantes presentaron otros tumores: glioblastoma con centro necrótico (n= 9), oligoastrocitoma anaplásico (n= 3), metástasis con necrosis (n=4) y meduloblastoma (n=2). De las 26 lesiones, 10 (8 linfomas y 2 medublastomas) mostraron restricción de la difusión, en coincidencia con la alta celularidad tumoral de ambas entidades histológicas. En el análisis espectral de los tumores, todos tuvieron un incremento de la curva de lípidos. El pico en los linfomas y meduloblastomas ocurrió en los sitios sólidos, mientras que en las demás lesiones los lípidos se observaron en los sitios de necrosis tumoral. Conclusión: El análisis de las secuencias de RM convencional sin y con contraste endovenoso, junto con las técnicas de difusión y espectroscopia, permite aproximarse al diagnóstico de linfoma de SNC.(AU)

Purpose: To show the imaging findings in cases of central nervous system (CNS) lymphoma with conventional and functional (diffusion and spectroscopy) magnetic resonance imaging (MRI) techniques, emphasizing the contributions that advanced imaging techniques provides to improve the diagnostic accuracy and rule out other tumors. Materials and methods: Between June 2008 and January 2012 we studied 26 inmunocompetent patients with diagnosis of central nervous system tumor, confirmed by pathology. These patients performed a brain MRI with conventional and functional techniques (diffusion and spectroscopy) and with gadolinium before surgery or biopsy. Results: We included 26 inmunocompetent patients, 13 men and 13 women. Eight patients with diagnosis of primary CNS lymphoma and 18 with other tumors: glioblastoma (n=9), anaplastic oligoastrocytoma (n=3), metastases with necrosis (n=4), and medulloblastoma (n=2). Ten of the 26 lesions showed restricted diffusion, this happened in all lymphomas and in both medulloblastomas. This is due to the high cellularity of the tumors. Spectroscopy showed increased lipids in all tumors. The difference among the tumors was the place of the measurement of lipids. Both medulloblastoma and lymphomas showed a lipid peak in the solid portion of the tumor while the remaining tumors showed lipids in the necrotic areas. Conclusion: The combination of conventional and functional MRI techniques with intravenous contrast improve the diagnostic accuracy of CNS lymphoma.(AU)

[Sex-related differences in atrophy and lesion load in multiple sclerosis patients]. / Diferencias en la tasa de atrofia global y regional y del volumen lesional entre género en esclerosis múltiple.

INTRODUCTION: Previous studies showed gender-associated clinical and MRI differences in multiple sclerosis (MS) evolution. However, only few studies were done with non conventional MRI techniques and no one was done in a South American MS population. The aim of this study was to investigate gender differences according to nonconventional MRI measures in patients with MS from Buenos Aires, Argentina. METHODS: Relapsing-remitting MS patients (RRMS) with at least 6 years of follow up and an MRI at onset and at 6 years were included. Patients were assessed using nonconventional MRI measures: total brain volume (TBV), neocortical grey brain volume (GBV), white brain volume (WBV), lesion load (LL), % of brain volume change between onset and year 6 (% BVC) and regional brain volume change. Gender-related MRI differences were investigated using general linear model analysis. RESULTS: The 45 patients were included (25 female). Mean follow up time was 7.3 ± 0.2 years. No differences in age, EDSS at onset, DMD treatment, TBV, GBV, WBV neither LL were found between gender at baseline. Six years later, males showed a decrease in TBV (P=.002) and GBV (P ≤ 0.001) and an increase in LL (P=.02) and % BVC (P<.001) vs. females. Female patients showed a decrease in the volume of frontal subcortical region. DISCUSSION: This is the first study showing differences in brain volume changes between gender in MS patients from South America. Future studies will confirm our initial findings.

[Brain atrophy in clinically isolated syndrome]. / Atrofia cerebral en pacientes con síndrome desmielinizante aislado.

INTRODUCTION: Previous reports have shown that brain atrophy appears early in the course of multiple sclerosis (MS). The aim of the present study was to evaluate whether brain atrophy already exists in clinically isolated syndrome (CIS) by comparing with a control sample. METHODS: Patients with CIS were included prospectively from June 2008 to June 2009. A control group of healthy persons, matched by age and gender with CIS, was also included during the same period of time. An automated analysis tool, SIENAX, was used to obtain total brain volume (TBV), gray matter volume (GMV) and white matter volume (WMV). Mann-Whitney U test was used to analyze the data. RESULTS: Twenty CIS patients and 30 healthy controls were included (8 vs. 17 females, p=0.11). Mean age for CIS was 35 ± 6 years vs. 34.4±5 in controls (p=0.61). Mean EDSS in CIS was 1.1 ± 0.5. Eighteen patients with CIS (90%) had abnormal baseline MRI. The TBV in CIS was 1.6.l ± 0.22.l × 106 vs.1.65 ± 0.15 × 106 in controls (p=0.005), the GMV in CIS was 0.58 ± 0.05 × 106 vs. 0.67 ± 0.03 × 106 in controls (p ≤ 0.001) and the WMV in CIS was 1 ± 0.1 × 106 vs. 1.12 ± 0.02 × 106 in controls (p=0.03). CONCLUSIONS: This is the first study dealing with brain atrophy in a CIS sample from Latin America in which brain atrophy, mainly grey matter atrophy, was shown in early stages of the disease compared with healthy individuals.