Inflammatory pathology markers (activated microglia and reactive astrocytes) in early and late onset Alzheimer disease: a post mortem study.

AIMS: The association between the pathological features of AD and dementia is stronger in younger old persons than in older old persons suggesting that additional factors are involved in the clinical expression of dementia in the oldest old. Cumulative data suggests that neuroinflammation plays a prominent role in Alzheimer's disease (AD) and different studies reported an age-associated dysregulation of the neuroimmune system. Consequently, we sought to characterize the pattern of microglial cell activation and astrogliosis in brain post mortem tissue of pathologically confirmed cases of early and late onset AD (EOAD and LOAD) and determine their relation to age. METHODS: Immunohistochemistry (CD68 and glial fibrillary acidic protein) with morphometric analysis of astroglial profiles in 36 cases of AD and 28 similarly aged controls. RESULTS: Both EOAD and LOAD groups had higher microglial scores in CA1, entorhinal and temporal cortices, and higher astroglial response in CA1, dentate gyrus, entorhinal and temporal cortices, compared to aged matched controls. Additionally, EOAD had higher microglial scores in subiculum, entorhinal and temporal subcortical white matter, and LOAD higher astrogliosis in CA2 region. CONCLUSIONS: Overall, we found that the neuroinflammatory pathological markers in late stage AD human tissue to have a similar pattern in both EOAD and LOAD, though the severity of the pathological markers in the younger group was higher. Understanding the age effect in AD will be important when testing modifying agents that act on the neuroinflammation.

[Weston Hurst acute haemorrhagic leukoencephalitis. Neuropathological study of one case]. / Leucoencefalitis aguda hemorrágica de Weston Hurst. Estudio neuropatológico de un caso.

INTRODUCTION: Acute hemorrhagic leukoencephalitis (AHL), or Hurst disease is a rare, usually fatal, disease, probably due to an autoimmune cross reaction against myelin antigens present in the central nervous system, and which forms a spectrum of post infeccious demyelinating diseases with acute disseminated encephalomyelitis. CASE REPORT: The patient was a 21 year old female who presented with an acute encephalopathy and generalized seizures following a 15 day febrile syndrome attributed to amygdalitis; a laboratory work up, including CSF, was non diagnostic, and a brain CT scan revealed diffuse cerebral edema. After 12 days the patient died from nosocomial pneumonia and multi organ failure; neuropathological examination of the brain confirmed the diagnosis of Hurst acute hemorrhagic leukoencephalitis, with a weak perilesional inflammatory reaction, unlike the usual picture in AHL. DISCUSSION: AHL should be a part of the differential diagnosis of acute encephalopathic diseases, particularly if preceded by systemic infections. The atypical laboratory findings, and the impossibilty of performing a brain MRI were obstacles to the diagnosis in this case. The relative paucity of the perivascular infiltrate is an atypical finding, and could be due to apoptotic clearance of the inflammatory cells, as has been described in other autoimmune demyelinating diseases.

[Dysembryoplastic neuroepithelial tumors]. / Tumores disembrioplásicos neuroepiteliales.

INTRODUCTION: The dysembryoplastic neuroepithelial tumors tend to occur in young patients, with partial complex partial seizures which is refractory to medical treatment. These are stable lesions, with defined histological features, specially with clinical data corroboration. CLINICAL CASES: The clinical, imagiological, operative, and histopathological data of six patients with proved dysembryoplastic neuroepithelial tumors were reviewed. All patients had seizures with age at onset ranged from 7 to 27 years. Five lesions were located in the temporal lobe and one in the parietal lobe. Common features included cortical to subcortical location, low density in CT-scan, very low signal intensity on T1-weighted images and high signal on T2-weighted images. Calcification occurred in two lesions, and three showed contrast enhancement. Complete resection of the tumor was performed in three cases, and subtotal resection in other three cases. Pathological features included oligodendroglial-like cells, glioneural component, and few cases showed dysplastic cortical disorganization. The postoperative period of follow-up ranged from 2 to 18 months. Four patients were seizure free, two of which had subtotal resection of the lesion. The remaining two patients maintained seizures. CONCLUSIONS: The clinical, imagiological and histopathological data of the six cases presented are generally compatible with those of the reports reviewed by the authors. The imagiological features are nonspecific. Surgical treatment permits histological diagnosis and epilepsy control.

Recurrent Focal myositis: a rare inflammatory myopathy.

Focal myositis is an acute and localized muscle inflammation of unknown aetiology. The clinical diagnosis is often difficult to obtain, since it can be confused with infections, vascular thrombosis or muscle tumours such as sarcomas. This leads to a significant delay in the diagnosis, resulting in the administration of inappropriate and potentially harmful treatments.  We report here a case of recurrent focal myositis in a woman where the diagnosis was only obtained after 6 years, despite multiple hospital admissions. This case reinforces the importance of clinical knowledge and experience to tackle challenging medical scenarios.

The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligo-symptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.