Trace Element Imbalances in Acquired Hepatocerebral Degeneration and Changes after Liver Transplant.

Brain manganese (Mn) accumulation is a key feature in patients with acquired hepatocerebral degeneration (AHD). The role of trace elements other than Mn in AHD needs to be clarified. In this study, using inductively coupled plasma mass spectrometry, we aimed to evaluate blood levels of trace elements in patients with AHD before and after liver transplantation (LT). Trace element levels in the AHD group were also compared with those of healthy controls (blood donors, n = 51). Fifty-one AHD patients were included in the study (mean age: 59.2 ± 10.6 years; men: 72.5%). AHD patients had higher levels of Mn, Li, B, Ni, As, Sr, Mo, Cd, Sb, Tl and Pb and a higher Cu/Se ratio, and lower levels of Se and Rb. Six patients (two women; mean age 55 ± 8.7 years) underwent LT, and there was an improvement in neurological symptoms, a significant increase in the Zn, Se and Sr levels, and a decrease in the Cu/Zn and Cu/Se ratios. In summary, several trace element imbalances were identified in AHD patients. Liver transplantation resulted in the improvement of neurological manifestations and the oxidant/inflammatory status. It is possible that observed changes in trace element levels may play a role in the pathophysiology and symptomatology of AHD.

Clinical features of hypertrophic pachymeningitis in a center survey.

BACKGROUND: Hypertrophic pachymeningitis (HP) is characterized by cranial and/or spinal thickening of the dura mater with or without associated inflammation. Neuroimaging studies reveal dura mater thickening and focal or diffuse contrast enhancement. It is described in association with trauma, infections, tumors, autoimmune/inflammatory diseases, and cerebrospinal fluid hypotension syndrome, with some cases remaining idiopathic. METHODS: A retrospective study was conducted with patients' identification through a key terms search within MRI reports in the period of July 2008 to September 2015. Clinical files, MRI, laboratory, and pathology data were reviewed. RESULTS: Fifty-three patients were identified and 20 were excluded because they did not meet the inclusion criteria. Of the 33 included, 19 were female, with a mean age at symptoms onset of 51.2 ± 17.6 years. The most common presenting symptoms were headache and cranial nerves palsy, followed by seizures, delirium, lumbar pain, cognitive decline, motor deficit, and language impairment. In 17 patients, a neoplastic etiology was identified; in eight, inflammatory/autoimmune; in six, infectious; and two were classified as idiopathic. Of the eight patients with inflammatory/autoimmune etiology, four had possible IgG4-related disease (IgG4-RD) and the remaining had granulomatosis with polyangiitis, sarcoidosis, rheumatoid arthritis, and Tolosa-Hunt syndrome. Treatment was directed according to the underlying etiology. DISCUSSION: In the described series, a female predominance was identified, with symptoms' onset in the 5th decade. Although headache was the most common symptom, clinical presentation was varied, emphasizing the role of MRI in HP diagnosis. The underlying etiologies were diverse, with only a few cases remaining idiopathic, also reflecting the contribution of the recently described IgG4-RD.

Neurosarcoidosis according to Zajicek and Scolding criteria: 15 probable and definite cases, their treatment and outcomes.

INTRODUCTION: Neurosarcoidosis occurs in about 5% to 15% of patients with sarcoidosis. The purpose of this study was to identify and characterize a cohort of neurosarcoidosis patients and to review the largest previously reported neurosarcoidosis case series. METHODS: This retrospective study enrolled all patients with the diagnosis of probable or definitive neurosarcoidosis according to Zajicek and Scolding criteria, followed at the neurology department of a tertiary center in Portugal from January 1989 to December 2015. RESULTS: A total of 15 patients presented a diagnosis of probable or definitive neurosarcoidosis, with a mean age at time of diagnosis of 38.5years. The presenting neurologic syndrome was isolated cranial neuropathy, aseptic meningitis, myelitis, brain parenchymal lesion, myelorradiculitis and meningomyelorradiculitis. MRI study most often presented different enhancing lesions and the CSF analysis commonly revealed a lymphocytic pleocytosis and raised proteins. Thirteen patients had histopathology confirmation of systemic sarcoidosis and one preformed a spinal cord biopsy. Corticosteroids was the most often used treatment alone or in combination with immunosuppressive drugs. After a mean follow-up of 86.1months, the majority of patients fully recovered to a mRankin 0. DISCUSSION: Fully comprehension of neurosarcoidosis is still a challenge due to its rarity and limited number of large published series, which renders the epidemiological study of this disease very difficult. In this study, the thoroughly medical records review and the summarize of previous published cohorts allow to add some information in the epidemiological and clinical knowledge of this entity.

CADASIL: MRI may be normal in the fourth decade of life - a case report.

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifests by migraine with aura, cerebral ischemic events, mood disturbances and dementia. Brain MRI lesions typically precede the symptoms from 10 to 15 years and previous evidence showed all CADASIL patients above 35 years old have an abnormal MRI, supporting the clinical diagnosis. Case results We present a 37-year-old female patient with migraine without aura, a family history of CADASIL, normal brain 3-Tesla MRI and normal skin biopsy, even though a pathogenic NOTCH3 gene mutation (allele 2, exon 11, c.1672 C\gtT, p.Arg558Cys) was detected. Conclusions When CADASIL is strongly suspected, a normal brain MRI, even in the fourth decade of life, does not rule out the diagnosis and should not discourage the genetic test.

Chondroma of the Cerebral Falx: Case Report of a Very Rare Intracranial Tumor / Condroma da foice do cérebro: relato de caso de um tumor intracraniano muito raro

Chondromas are a benign cartilaginous tumor that account for approximately 0.5% of primary intracranial tumors. They usually arise from the synchondrosis of the skull base, being rarely reported elsewhere (dura convexity, falx, or even intraparenchymal). Because they are very rare tumors sharing clinical behavior and imagiological similarities with the much more common meningioma, the clinical diagnosis is frequently mistaken after an initial imaging workup. The authors present a case of a 48-year-old woman, with frequent headaches and an extra-axial tumor arising from the anterior falx, initially diagnosed as a meningioma.

Condromas são tumores cartilaginosos benignos que correspondem por aproximadamente 0,5% dos tumores primários intracranianos. Eles geralmente surgem da sincondrose da base do crânio, sendo raramente registrados em outros locais como a convexidade dural, a foice, até mesmo no parênquima cerebral. Por serem tumores muito raros que compartilham comportamento clínico e imagiológico com meningiomas, o diagnóstico é frequentemente confundido após exame de imagem inicial. Os autores apresentam o caso de uma mulher de 48 anos, com cefaleia frequente e um tumor extra-axial ascendendo da foice anterior, inicialmente diagnosticado como um meningioma.

Reliability of CT perfusion in the evaluation of the ischaemic penumbra.

CT perfusion (CTP) is part of the initial evaluation of stroke patients, allowing differentiation between infarcted tissue and the ischaemic penumbra and helping in the selection of patients for endovascular treatment. This study assessed the reliability of the qualitative evaluation CTP maps in defining the ischemic penumbra and identified potential pitfalls associated with this technique. We reviewed CTP scans of 45 consecutive patients admitted to our institution with anterior circulation acute ischaemic stroke. Two neuroradiologists performed qualitative evaluations of cerebral blood volume (CBV) and mean transit time (MTT) maps, using 24h follow-up non-contrast CT as surrogate marker for the area of definitive infarct. For each slice analyzed, the area of qualitative alteration in the CBV and MTT maps was classified as either being inferior, equal or superior to the area of infarct on the follow-up CT. Three out of 45 (7%) patients had admission CT CBV abnormalities larger than follow-up lesions; 34/45 (76%) patients had infarct areas smaller than initial MTT prolongation. In the group of patients with no recanalization 12/19 (63%) had infarct areas smaller than initial MTT lesion. CBV abnormality is a reliable marker for an irreversible ischaemic lesion, although rarely it may overestimate the ischaemic "core", possibly due to delay in contrast arrival to the brain. In the majority of patients without recanalization, MTT overestimated final infarct areas, probably because it does not differentiate true "at risk" penumbra from benign oligaemia. Qualitative evaluation of CBV and MTT maps may overestimate the real ischaemic penumbra.