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.

Displasia cortical focal: hallazgos en imágenes de tensor de difusión

Objetivo: La displasia cortical focal (DCF) es una anomalía del desarrollo cortical. Representa una de las causas más frecuentes de epilepsia refractaria, siendo fundamental la resonancia magnética (RM) para su diagnóstico. Dada la importancia que ha cobrado la secuencia de tensor de difusión (DTI), el objetivo de este trabajo fue evaluar retrospectivamente los hallazgos en el mapa de fracción de anisotropía del DTI en pacientes con DCF. Observaciones: Se buscó retrospectivamente a pacientes con diagnóstico anatomopatológico de DCF en la base de datos de nuestro hospital. De un total de 74, se seleccionaron 8 casos con diagnóstico aislado de DCF y estudio de RM prequirúrgico con DTI. El foco de displasia se identificó en las imágenes anatómicas convencionales de la RM. Se evaluó el mapa de fracción de anisotropía (FA) y se definieron las alteraciones en la región de la DCF. Se observó una disminución de la FA en la sustancia blanca adyacente a la DCF en 7 de los 8 pacientes (87,5%). Discusión: Los hallazgos con el DTI brindan información complementaria en relación con la RM. En la mayoría de nuestros pacientes no hubo cambios de señal en la sustancia blanca en las imágenes convencionales, pero sí se identificó una disminución de la FAen el DTI. Se desconoce si esto refleja cambios estructurales o únicamente funcionales, secundarios a la lesión primaria. Creemos que el DTI puede agregar información complementaria de valor para el diagnóstico y valoración de la extensión de esta patología.

Objective: Focal cortical dysplasia (DCF) in an anomaly of cortical development. It represents one of the most frequent causes of drug resistant epilepsy and the magnetic resonance imaging (MRI) is trivial for its diagnosis. In the last years the use of diffusion tensor imaging (DTI) has increased in this kind of pathology. The purpose of this work was to evalúate retrospectively DTI findings on fractional anisotropy maps in patients with FCD. Observations: We retrospectively searched patients with confirmed anatomo-pathological diagnosis of FCD in our hospital datábase. From a total of 74, 8 patients, with isolated diagnosis of FCD and preoperative MRI with DTI, were selected. The FCD was identified in conventional anatomical MRI in all patients. Fractional anisotropy (FA) maps were evaluated and changes in the región of FCD were defined. Decreased FA was observed in white matter adjacent to the FCD, in 7 of 8 patients (87.5%). Discussion: Findings of DTI gives us complementary information to those of conventional MRI. Most of our patients showed no signal changes of white matter in conventional sequences and they presented decreased FA in DTI. We don't actually know if these DTI findings represent structural changes in white matter or just functional changes secondary to the adjacent FCD. We think DTI can give valuable complementary information for the diagnosis and determination of the extensión of this pathology.

Combined use of progesterone challenge test and endometrium thickness evaluated by transvaginal ultrasonography in the preventive management of postmenopausal women.

Endometrial thickness was evaluated in apparently normal postmenopausal women by transvaginal ultrasonography and the results were compared with the response to the progesterone challenge test (PCT). A positive correlation between amount of withdrawal bleeding after PCT and endometrial thickness was found, also demonstrated by the significative correlation between bleeding length and endometrial thickness. Among women referring withdrawal bleeding, 100 and 22% of cases classified as overt flow and spotting, respectively, were characterized by pathologic histological findings. The combined use of these two procedures is suggested as an effective screening mean in the preventive endometrial management of apparently normal postmenopausal women to select candidates for diagnostic invasive procedures.