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Peroxisomal diseases are a heterogeneous group of genetic metabolic disorders which are caused by incorrect biogenesis of peroxisomes or a defect in activity of particular enzymes located in those organelles. D-bifunctional protein (D-BP) deficiency belongs to the second group of peroxisomal diseases characterised by dysfunction of a single peroxisomal enzyme. Bifunctional protein is a catalyst in the second and third stage of the \beta-oxidation of fatty acids. Gene locus of bifunctional protein deficiency comprises chromosomes 5q2 and 3p23-p22. The authors present two siblings with progressing family encephalopathy. In the younger brother the diagnosis of a bifunctional protein deficiency was made. The girl died before a diagnosis was made; however, due to the presence of a very similar clinical condition a suspicion arises that the girl had a peroxisomal disease. In the siblings were ascertained characteristic dysmorphic features, delayed psychomotor development, polymorphic epileptic seizures and generalized muscular hypotonia with areflexia. The neuropathological findings were consistent in general with MRI findings showing features of hypomyelination. Also neuron heterotopias that were found in autopsy are a form of pathology typical for D-BP.

Cerebral cortical development can be divided into three steps: cellular proliferation, neuronal migration and organization. Based on known pathologic, genetic and neuroimaging features a classification for malformations of cortical development was proposed by Barkovich in 2001, and updated in 2005. Malformations of cerebral cortex development (MCCD) often demonstrate epileptic seizures and delay in psychomotor development. About 20-40% of children with epilepsy are drug-resistant and there is a large paediatric population requiring epilepsy surgery operations. In our work we performed clinical analysis of 68 children with MCCD treated in our hospital between 2000 and 2006. In our work to consider the type of MCCD we used the updated classification scheme proposed by Barkovich et al. We analyzed epilepsy, gestational and perinatal history, initial symptoms, time to establishing full diagnosis and neurodevelopmental/IQ status. In our results we found that despite similar clinical manifestation neuropathological basis could be significantly different, and vice versa: children with nearly identical neuropathological findings could have completely different neurological and radiological symptoms. Children with drug-resistant epilepsy are potential candidates for neurosurgical treatment; especially lesionectomies in such cases could be very promising in terms of epilepsy management and quality of life as well.

The role that apoptosis plays in the pathogenesis of amyotrophic lateral sclerosis (ALS) is still unclear. From our autopsy samples, we have undertaken an effort to verify if apoptosis in ALS really occurs or if can at least be detected. The study was performed using TUNEL method for screening the apoptotic changes in the autopsy samples from 8 ALS cases compared with 16 control cases. No features of apoptosis (DNA cleavages) were noted in any of the investigated regions of the central nervous system in ALS cases as well as in controls. These preliminary results seem to support the reports, which deny the role of apoptosis in human ALS. The following investigations using additional methods will be performed for detection the apoptotic signals in ALS.

The expression of protein RCAS1 (receptor-binding cancer antigen expressed on SiSo cells), possibly involved in the mechanisms of evasion of immune surveillance by tumours, has been studied in brain astrocytomas grade III and IV and in metastatic carcinomas to the brain by means of double immunofluorescence with antibodies against RCAS1 and respectively anti-GFAP (astroglia) or CD68 or CD74 (macrophages/microglia). Expression of RCAS1 has been reported in many types of carcinomas and in some normal cells, including bone marrow macrophages. Nakabayashi and coworkers recently reported expression of RCAS1 in gliomas. So far no attention has been paid to expression of RCAS1 in non-neoplastic cellular elements of tumours such as macrophages and to the expression of RCAS1 in metastatic carcinomas. We found expression of RCAS1 co-localizing with GFAP+ cells of gliomas and with CD68 and CD74 in large macrophages infiltrating metastatic and primary tumours and sometimes in cells which had morphological characteristics of microglia. Moreover, sometimes strong RCAS1 positivity has been found in metastatic carcinomas. Whether expression of RCAS1 in macrophages accompanying brain tumours is of any importance it is not possible to ascertain at present. However, when elucidating the possible role of RCAS1 in tumour biology, it seems to be necessary to include its presence not only in neoplastic cells.

The purpose of this study was to determine the effect of fish oil supplementation on aging in the cerebral cortex, hippocampus and cerebellum of rats. Results of biochemical and histological analyses of brain tissue collected from young rats (age: 2 months) prior to the experiment were compared with the results obtained from the 14-month-old animals assigned to the control and supplemented group. Total polyunsaturated fatty acid (PUFA) composition and thiobarbituric acid reactive substance (TBARS) levels were assessed in the examined brain regions. Furthermore, the presence of lipofuscin and amyloid-β, as well as the number of apoptotic and proliferative cells, was determined in the brain tissue. The analyses revealed that the number of proliferative neurons was significantly higher in the fish oil treated group in the cerebral cortex, hippocampus proper and dentate gyrus. Furthermore, in animals fed the fish oil-supplemented diet, amyloid-β plaques were not observed in the examined brain regions. These results suggest that fish oil supplementation has a neuroprotective effect on the process of proliferation and may protect against spontaneous amyloidosis in the brain.

Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain. Of note, the most severe destruction was observed in the deepest regions of the sulci. The cortex of the affected regions showed no normal stratification and its structure was almost totally replaced by a form of "granulation tissue" with a markedly increased number of capillaries. To the authors’ knowledge this is the first clinical report of ethylmalonic aciduria with brain autopsy findings.