Advanced CKD is independently associated with poorer cognitive performance measured by an executive performance test compared to mild CKD.

Objective: Genetic-related breast cancer has a tendency to manifest earlier and to be more aggressive than sporadic cancer. There are few studies evaluating the prevalence and incidence of hereditary breast and ovarian cancer (HBOC) among Brazilians. In order to improve assistance, efforts to characterize the population at risk of HBOC could help to formulate locally designed guidelines. Methodology: Descriptive retrospective study in Hospital Erasto Gaertner's service of Oncogenetics, in Curitiba, state of Paraná, Brazil. We included individuals at-risk for HBOC, according to the National Comprehensive Cancer Network (NCCN) criteria, who had performed genetic tests for HBOC. We collected complete family history, presented as heredograms. We excluded families with inappropriate family history. Results: Of the 27 patients analyzed (total of 25 families), 7% were asymptomatic, 8% had ovarian cancer and 85% had breast cancer. Mutations were found in 29.6%, 6 cases of BRCA1, 1 of BRCA2 and 1 of TP53. Triple negative was the most common reported subtype, representing 60% of breast cancers; among patients with identified pathogenic variants, 2 were BRCA2 mutated and 1 TP53 mutated. The mean age of diagnosis was 40 years for those identified as probands on heredograms; in the generation above, it was 52,5, and in the below, 33, suggesting the antecipation phenomena Two new mutations were identified in Brazilian population, both in BRCA1: c.4258 G>A and c.5345 G>A. The most frequent NCCN criteria were number 2, 9, 8 and 4. Estimated penetrance was 22%. Conclusion: This is the first descriptive study in the population at-risk for HBOC in the state of Paraná. We could identify two new pathogenic variants of BRCA1 in Brazilian population. A comprehensive family history was included in the study, depicted as heredograms of each family. Despite the low number of patients, the main results are in agreement with previous studies.

Introduction: Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection caused by reactivation of JC virus in the central nervous system and is an important differential diagnosis in patients with subacute focal neurologic deficits. Magnetic resonance imaging (MRI) is the most sensitive tool for detection of early manifestations of the disease1 . Case Report: A 42-year-old woman with a previous diagnosis of HIV infection, without treatment for the last two years, presented with progressive headache, left hemiparesis, hypoesthesia and homonymous hemianopia in the last two months. CD4 cell count was 16 cel/mm3 and viral load of 99.364 copies/mL. Brain MRI revealed multifocal, subcortical and confluent hyperintense T2/FLAIR lesions in the right parietooccipital lobe, crossing the midline by the corpus callosum, with hyperintense peripheral rim on DWI-image and a central hypointense core, without mass effect. On T2-weighted image, typical multiple punctiform hyperintensities formed the Punctate Pattern, which is known as the Milky Way appearance when nearby a larger PML lesion. The final diagnosis was confirmed by the detection of JC virus on cerebrospinal fluid by PCR. Discussion: The punctate pattern is characterized by at least three punctiform (<5mm) hyperintense lesions on T2/FLAIR images, with or without contrast enhancement. It has already been described in PML, neurosarcoidosis, hematologic diseases, CLIPPERS and CNS vasculitis. Recently it was described as a highly specific feature of PML related to natalizumab, even in pre-symptomatic stages. Further studies are required stablish its incidence in patients with PML from other causes2.

Context: Balint syndrome (BS), first described in 1909, has three core features: optic ataxia, oculomotor apraxia and simultanagnosia, and has been described after various conditions amongst vascular, infectious, demyelinating and degenerative diseases1 . It has already been reported concomitant with corticobasal syndrome (CBS)2 . Case report: 59 year-old male without history of previous diseases presented with behavior changes in the last two years. He had a previous diagnosis of “stroke” because frequent falls to the left side and difficulty in using his left hand for simple daily activities. After that, he gradually evolved with visual problems (bumped into objects inside his house), fear of walking or sitting, and required constant assistance for basic activities of daily living. On physical examination he presented with clear visuospatial dysfunction, characterized by simultanagnosia, oculomotor apraxia and optic ataxia. Bilateral asymmetric upper limb apraxia (worse on left side), dystonic posturing and stimulus-sensitive myoclonus in the left arm were also present. No signs of parkinsonism or language/speech disturbances were identified. Brain MRI showed severe asymmetric biparietal lobe atrophy (right more than left). DISCUSSION: The pathologic findings underlying CBS are variable, including Corticobasal Degeneration, Progressive Supranuclear Palsy, Frontotemporal Lobar Degeneration and Alzheimer Disease (AD). The association of BS and CBS favors the possibility of AD pathologic findings3 . Imaging methods like FDG-PET have recently been shown to be capable of distinguishing AD-related CBS from those associated with other pathologies4 . FDG-PET is not widely available in our country; than the presence of BS in CBS patients may individualize their treatment.

Context: Lacunar infarcts are small infarcts caused by occlusion of a single penetrating vessel, affecting mostly the basal ganglia, subcortical white matter and pons1. Around 20-30% of patients may progress symptoms over hours to days, and this presentation is associated with disability and poor prognosis2. Case report: A 70-year-old man with history of smoking, hypertension and a previous right occipital stroke reported right upper lip paresthesias since awakening. In 2-hours the right perioral region and his right hand were affected. After 3-hours he noted slurred speech. After 4-hours, imbalance was added to the previous symptoms. On admission, NIHSS was 4, mostly by previous left hemianopia, new right arm ataxia and cerebellar dysarthria. There were no weakness or sensory déficits. Brain MRI showed a subacute lacunar stroke in the left thalamus. Discussion: Thalamic lacunar strokes can present in a wide range of symptoms depending on the affected nuclei. The ventral posterior lateral nucleus (VPLn) and the ventral posterior medial nucleus (VPMn) carries sensory input from the contralateral body and face, respectively3. Cheiro-oral syndrome (COS) is considered a pure sensory thalamic lacunar syndrome with symptoms that affect the face, hand and/or foot, but may be accompanied by ipsilateral ataxia if the ventral lateral nucleus is also affected4 . Although classically associated with thalamic ischemic lesions, there are descriptions of hemorrhagic strokes5 and multiple different affected regions presenting as COS, including brainstem5 , internal capsule6 , operculum7 , cortex8 , corona radiata9 and thalamus10. Early recognition and diagnosis is essencial to institute adequate early treatment and secondary prophylaxis.