Capillary vessel wall in CADASIL angiopathy.

The study was aimed at investigating the morphology of capillaries in four skin and muscle biopsy specimens obtained from CADASIL patients. In all cases diagnosis confirmed at the ultrastructural level, and additionally in three cases, the genetic test revealed the Notch3 gene mutations. Using histological and immunohistochemical (IHC) markers for components of capillary vessel wall we showed the reduction and loss of pericytes and and fibrous vessel wall including the thickened basement membrane.

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported.

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.

Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive disorder caused by mutation in the ADSL gene. The disease was identified in 1984 by Jaeken and van der Berghe as the first inborn defect of purine biosynthesis. Affected children revealed encephalopathy with epilepsy and marked psychomotor retardation.

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

CHILD syndrome is an acronym for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects. This is an X-linked dominant disorder affecting females with early lethality in hemizygous males. The clinical features are congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral hypoplasia of limbs and other parts of the skeleton as well as defects of the brain, heart, kidney and lung.

Giant cell ependymoma of the spinal cord and fourth ventricle coexisting with syringomyelia.

This report presents a case of widespread intramedullary giant cell ependymoma arising from the central canal of the C4 segment of the spinal cord in a 28-year-old man admitted to hospital with tetraplegia and signs of increased intracranial pressure, eight months after surgical spinal cervical decompression without tetraplegia improvement. Magnetic resonance imaging and autopsy revealed a tumour extending from segment C3/C4 of the spinal cord to the lower half of the fourth ventricle with coexisting syringomyelia. This slow-growing ependymoma of low-grade malignancy exhibited unusual morphology as well as degenerative and ischaemic changes.

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

Adenylosuccinase (ADSL) deficiency is an autosomal recessive disorder affecting mainly the nervous system. The disease causes psychomotor retardation, frequently with autistic features and epilepsy. ADSL deficiency may be diagnosed by detection of two abnormal metabolites in body fluids--succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr).

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic translation initiation factor eIF2B. Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown products, and predominantly involving the cerebral hemispheric white matter. Within the white matter abnormal oligodendroglial cells are present with abundant "foamy" cytoplasm.

Neurodegenerative disease in infants with multiple congenital malformations--report of two cases.

During embryogenesis, about 40% of genes are involved in the development of the central nervous system (CNS). The same genes support the integrity and function of brain cells in humans. Birth defects cause different changes in genetic material during embryogenesis.

Degeneration of microglial cells in frontal and temporal lobes of chronic schizophrenics.

Schizophrenia is a social disease that occurs in 0.5-1% of the population. It shows a high variability in both clinical picture and theory of its pathogenesis.

Ultrastructural evaluation of activated forms of microglia in human brain in selected neurological diseases (SSPE, Wilson's disease and Alzheimer's disease).

Activated forms of microglia were ultrastructurally evaluated in three neurological diseases of different aetiology (subacute sclerosing panencephalitis--SSPE, Wilson's disease and Alzheimer's disease). The occurrence of activated rod, ramified and amoeboid microglia was found in the investigated diseases. The widest ultrastructural variability of microglia was in SSPE, including the presence of mitotic chromosomes or centrioles in its cytoplasm, which indicates microglia proliferation.

Haemangioblastoma of the posterior cranial fossa: clinico-neuropathological study.

Haemangioblastoma (HBs) may occur sporadically in the central nervous system, or in association with von Hippel-Lindau (VHL) disease. Haemangioblastoma of the central nervous system is often seen in the posterior cranial fossa. VHL is an autosomaly dominant disorder.

Anomalies of cerebral structures in acranial neonates.

Eleven cases of newborns with acrania and macroscopically diagnosed anencephaly were neuropathologically examined. They presented changes in which 1 group corresponded to the diagnosis of aprosencephaly. In the second group, the development of prosencephalic structures was more advanced.

Neuropathological and anatomopathological analyses of acardiac and "normal" siblings in an acardiac-twin pregnancy.

Acardiac twinning is a very rare complication of multiple pregnancy. The authors present the neuropathological and anatomopathological description of the twins of the multiple pregnancy complicated by the acardiac foetus and terminated at 26 weeks of gestation. An anatomopathological examination of the "normal" twin showed hyaline membrane syndrome, cardiomegaly and hepatomegaly.

Morphological analysis of active microglia--rod and ramified microglia in human brains affected by some neurological diseases (SSPE, Alzheimer's disease and Wilson's disease).

The activation of microglial cells in pathological conditions is manifested primarily by their proliferation, as well as by the occurrence of a new morphological form--rod microglia. In the present study immunohistochemical identification of rod microglial phenotype against ramified microglia was performed on segments of 17 brains derived from 7 cases of encephalitis of viral aetiology (including 5 SSPE cases), 6 cases of Wilson's disease and 4 cases of Alzheimer's disease. Segments from frontal, temporal and occipital lobes, cerebellum and brainstem were subjected to histological, histochemical and immunohistochemical reactions.

[MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes].

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS) is a maternally inherited multisystem disease caused by mutations of the mitochondrial DNA. The characteristic clinical features are: encephalopathy manifesting as dementia and seizures, stroke-like episodes at young age (usually < 40), lactic acidosis and myopathy with ragged-red fibres. Other frequent manifestations include: sensorineural deafness, diabetes, hypoparathyroidism, peripheral neuropathy and cardiomyopathy.

Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy.

We present the light and electron microscopy examinations of skeletal muscle biopsies from a 36-year-old mother and her 13-year-old daughter with mitochondrial encephalomyopathies. Clinical signs and symptoms suggesting mitochondrial disease, such as disseminated neurological symptoms, visual and hearing disturbances, mental disability, exercise intolerance, heart conduction disturbances, short stature, family history, were present in both patients. The mother's niece (8 years old) also died with progressive neurological disorder.

Neurones and microglia in central nervous system immune response to degenerative processes. Part 1: Alzheimer's disease and Lewy body variant of Alzheimer's disease. Quantitative study.

The quantitative correlation between neurone loss and brain immune response, assessed by intensity of microglia inflammatory reaction in cortical association area and limbic cortex, was investigated and compared in previously immunohistochemistry (IHC) and ultrastructural confirmed 11 cases of Alzheimer's disease (AD), 7 cases mixed form of Dementia with AD findings and Lewy bodies (AD/DLB) reported, in accordance with Consortium on Dementia, as Lewy body variant of AD (LBV) and 6 non-demented autopsy control cases from 63 to 86 years old. In the present work we investigated association and limbic cortical areas linked with memory mechanisms; there are regions characterised by early distribution of IHC confirmed AD and DLB/AD (LBV) markers, as well as a substantial physiological stability of neurone pool regardless of age. The results indicated that AD and LBV differ in their neurone loss intensity and inflammatory reaction, with much higher intensity in AD.

Major histocompatibility complex class II (MHC II) expression in the normal and pathological human foetal spinal cord.

The ability of the specific immune response of organisms is determined by the possibility of synthesis, transport and presentation of the major histocompatibility complex class II (MHC II) molecules on the surface of antigen-presenting cells. MHC II molecules are responsible for the binding, transport and presentation of a foreign antigen to helper T lymphocytes. They also stimulate the multiplication of specific B lymphocytes and determine the type of antibodies produced.

Major histocompatibility complex class II expression in the frontal and temporal lobes in the human fetus during development.

Antigen-presenting cells (APCs) that show the expression of major histocompatibility complex (MHC) class II molecules in adult persons are related to an early phase of immunological response. These molecules are responsible for the binding, transport, and presentation of a foreign antigen to helper T lymphocytes and determine the type of antibodies produced. They also stimulate the multiplication of specific B lymphocytes and participate in the elimination of autoreactive lymphocytes and maturation of T lymphocytes.

The comparison of microglia maturation in CNS of normal human fetuses and fetuses with Down's syndrome.

The study was performed on the tissues derived from the central nervous system (CNS) of 72 normal human fetuses between 8 and 22 week of gestation (GW) and 30 fetuses with genetically confirmed Down's syndrome between 17 and 22 GW. Histochemical, immunocytochemical and ultrastructural examinations of microglial cells in frontal lobe, mesencephalon and cerebellum were carried out. A quantitative evaluation of developing microglia was performed in comparison with astroglial cells by counting the mean number of cells per 1 mm2.

Dysembryoplastic neuroepithelial tumor. A case report.

Dysembryoplastic neuroepithelial tumor (DNT) is a rare, benign tumor encountered in the cortex. It is characterized by the presence of cells of different histogenesis. Due to its mixed nature (glial-neuronal), WHO histological classification of brain tumors included it into the group of neuronal and glial-neuronal mixed tumors.

The significance of immunocytochemical markers, synaptophysin and neurofilaments in diagnosis of ganglioglioma.

Ganglioglioma is a tumor composed of neoplastic neurons and neoplastic glial cells mixed in different proportions. Astrocytes are the essential glial component. The tumor proliferates mostly in the temporal lobe cortex, scarcely in other areas of the brain.

Phenotype of mast cells in the brain tumor. Capillary hemangioblastoma.

Mast cells (MC) are heterogenous cell population. In normal human brain they are not numerous. Increases in number of mast cells within CNS occur in certain disease states including neoplasms.

Electron microscopic and immunohistochemical verification of diagnosis in two archival cases recognized as encephalitis necroticans acuta (ENA) on routine examinations.

Two archival cases diagnosed 20 years ago on routine neuropathological methods as Encephalitis Necroticans Acuta (ENA) were investigated in EM and by immunohistochemical methods. The previous diagnosis was confirmed only in one case because Herpes simplex virus was found. In the second case the intracellular inclusions visible in ME corresponded to Measles Virus thus previous diagnosis was changed to SSPE.