Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.

Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes.

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. The pathomechanism of the observed anomalies was analyzed in relation to data provided by molecular-genetic classification of nervous system malformations, but that did not exclude the influence of eventual extrinsic factors.

[Bioethics and scientific research progress]. / Bioetyka a postep badan naukowych.

Progress of biomedical sciences provokes ethical questions. In vitro fertilization, multiple embryos used in research, therapeutic cloning, technically possible genetic manipulations with embryos, exemplify the need to propose a uniform view regarding the beginning of human life. Numerous scientists are convinced that human life begins with fertilization, a point of establishing a genetic identity.

Accumulation, distribution and phenotype heterogeneity of mast cells (MC) in human brains with neurocysticercosis.

Neurocysticercosis (NCC) is one of the most common parasitic brain infections in the world NCC can cause widely varied clinical manifestations, mainly due to the host immune-inflammatory response. The immunological hallmark of the infection with helminth parasites is infiltration into the inflamed mucosa of the gastrointestinal tract of numerous mast cells. It has been postulated that mediators released by activated mast cells might contribute to the local inflammatory response. Since data concerning the association of mast cells with neurocysticercosis are not available, the aim of our study is to determine the distribution and phenotypes of mast cells in human brain infested by cysticerci. The study was performed on 20 human autopsy brains. Mast cells (MC) were identified by means of immunohistochemical method using specific MC tryptase and chymase monoclonal antibodies. In the control brains, mast cells were very few and showed a very sparse distribution. They had been occasionally found in meninges and in perivascular areas of some brain blood vessels. Those cells were mainly tryptase-chymase phenotype (MCTTC). In contrast, in the brain sections with neurocysticercosis, mast cells were numerous. A striking feature of identified mast cells was their phenotype heterogeneity. The tryptase mast cells (MCT) phenotype dominated over the tryptase-chymase (MCTC) phenotype. MCT infiltrated mainly meninges and brain parenchyma around cysts with viable and necrotic parasites. MCTC infiltrated perivascular area of the blood vessels penetrating to the depth of the brain. Summarising, this is the first report which documents the accumulation and phenotype heterogeneity of mast cells in human brains with neurocysticercosis. Our findings suggest that the effector mechanism responsible for the host responses to the parasitic infection that involves numerous mast cells in the human brain may be very important for pathomechanism of this disease.

The role of Glial-Pial barrier lesions and impaired vascularization in anomalous formation of cortical convolutions.

The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus coexisted often with Glial-Pial barrier lesions. We are able to say that our cases constitute a group of graded changes demonstrating that both observed developmental lesions vascular and/or Glial-Pial barrier damage may result in cortical anomalies. Their formation and character depend on the stage of cortical maturation when analyzed lesions occur.

Prosencephalic commissures dysgenesis combined with spinal neural tube defects.

The neuropathological picture of four cases of prosencephalic malformations coexisting with spinal dysraphic anomalies inclined us to discuss the nosological position of these abnormalities. The hypoplastic anomalies of prosencephalic commissures combined with well-cleaved (except for basal ganglia) brain hemispheres allow to think of failure within lamina terminalis. The observations support the opinion that described malformations are consequence of abnormal planning of prosencephalic formation. Our description testifies ones more that as a result of prolonged time of injury a complex picture of developmental anomalies is noted.

Brain damage in children in course of neoplastic diseases.

The aim of our neuropathologic study was to evaluate the changes in the CNS of children occurring in course of neoplastic diseases. First of all we looked for those which correspond to paraneoplastic syndromes and others which could be considered as secondary toxic lesions after prolonged chemotherapy. Twenty seven brains of children aged 0-11 years, 20 without and 7 with metastatic or primary neoplastic changes within CNS were examined. In all cases cerebellopathy which morphologically corresponded to paraneoplastic changes was found. The generalized damage of cerebral cortex less severe of the brain stem, and in several cases white matter changes were seen. They seem to be dependent on the prolonged treatment using cytostatic drugs.

Olfactory neuroblastoma (esthesioneuroblastoma) and esthesioneuroepithelioma: histologic and immunohistochemical study.

Two cases of olfactory neuroblastoma (ONB) representing two morphological variants of the tumor are described. Case 1 exhibited a neuroblastoma-like histological pattern corresponding to the usually reported type of ONB--the esthesioneuroblastoma, whereas in case 2 a very rare variant of ONB-the esthesioneuroepithelioma was recognized. The histological and immunohistochemical differences between the cases are discussed with regard to still controversial opinions concerning the subclassification of ONB and the histogenesis and clinical prognosis of these tumors.

[Brain changes in dysraphic syndromes occurring in cases of meningomyelocele]. / Zmiany w mózgowiu w zespole dysrafii wystepujace w przypadkach przepuklin oponowo-rdzeniowych.

Neural tube defects are the most common anomalies of the CNS in the group of dysraphic syndromes. They occur on both encephalic and spinal levels. According to the title of this article we discuss some characteristic examples of intracranial, encephalic changes occurring in cases of meningomyeloceles. The special position has to be attributed to Arnold-Chiari or Chiari malformation, being currently under a nosological discussion. It is often restricted to its most typical form-Chiari II syndrome. This is characterized by the neural tube defect and the posterior fossa and brain-stem-cerebellum malformation with a displacement into the foramen magnum. The compression of the fourth ventricle and even secondary necrotic changes are also seen. Clinical symptoms depend on the topography of pathological changes. Chiari II malformation coincides in the majority of cases with meningomyeloceles and sometime with other spinal cord malformations. Meningomyeloceles coincide often with anomalies within cerebral hemispheres. Among them hydrocephalus deserves particular attention, occurring in the majority of Chiari II cases and not being rare in cases of myeloceles. The anomalies and/or secondary lesions of encephalic structures, particularly of the cortical mantle are observed, depending upon the severity of hydrocephalus and the onset of its development. Meningomyeloceles can also be accompanied by cerebral hemispheres anomalies arising in the other pathomechanism and developmental period than dysraphic syndromes. The midline malformations and anomalies of commissural system are not rare among them. In conclusion we emphasize that each case of CNS malformations is unique. The observed anomalies have to be assessed whether they form a part of a leading syndrome or occur together with dysraphic changes.

The morphological picture of developing meningo-encephalitis in central nervous system.

In this paper we are summarizing our observations collected during several years and concerning the inflammatory changes in maturing human brains. Studies of inflammatory reactions in developing central nervous system (CNS) revealed that their morphological picture changes along with the maturation of the brain and formation of fetal immune response. We have analyzed various types of inflammatory processes (meningeal infiltrations, meningoencephalitis with perivascular infiltrates and glial interstitial changes, inflammatory-necrotic lesions) occurring in different stages of brain development. In all these processes gradual maturation of cell lines belonging to the immune system was seen. Evident correlation between tissue inflammatory reaction and necrosis was confirmed. The necrotic changes mainly within hemispheric white matter may result in the cortical malformations. The morphologic manifestation of inflammation in the developing CNS is dependent on the stage of maturation of the brain structure and immunological response.

The white matter changes in microencephalic HIV infected infants. A preliminary report.

The brains of six infants 14-34 months of age and with microencephaly (brain weight deficit 20-55.5%) were chosen from a group of cases vertically infected with HIV. The center of our investigations was focused on the white matter changes of which two types were observed in the examined brains. Within the periventricular white matter of four cases evident lesions consisting of myelin pallor and concomitant gliosis were recognized as HIV-1 infection related leukoencephalopathy. In all those cases myelination delay was also noted. In one case HIV encephalitis was diagnosed. Our observations suggest that in the majority of HIV infected infants changes resulting in the brain "too small for age" corelate with myelination delay coexisting with early-onset leukoencephalopathy. Because of the small number of cases in this study the results should be considered preliminary, and will require further investigations.

Ultrastructural studies of PECAM-1/CD31 expression in the developing mouse blood-brain barrier with the application of a pre-embedding technique.

The aim of this study was to investigate the time of expression of the adhesion molecule platelet endothelial cell adhesion molecule-1 (PECAM-1/CD31) in the developing mouse blood-brain barrier (BBB). Ultrastructural studies employing a preembedding technique described herein demonstrate that PECAM-1 is initially expressed on the luminal and abluminal endothelial cell surfaces in the newborn animals. This adhesion molecule expression appears to increase in intensity at 7-10 days post partum and then decreases to a weak labelling of the luminal endothelial cell surfaces at two weeks after birth. Our results present immunocytochemical detection of active angiogenesis during early brain development in the mouse. Moreover, because of the important role that adhesion molecules play in immune responses in the central nervous system, upregulation of PECAM-1 prior to structural maturity of the BBB may suggest that the development of an "immune BBB" manifests prior to anatomical closure of the BBB in the mouse.

The degenerative diseases or syndromes in maturing central nervous system.

The diagnosis of degenerative diseases or syndromes in the nervous system in based on their morphological picture. The changes occur in selected CNS structures or systems being induced in the course of more or less known processes sometimes with known, more often unknown etiology. Degenerative syndromes may be classified according to the topography of changes. They appear often with aging, but also in even greater number in infants. We tried to analyze the problem and find out to what degree the structure and topography of CNS degenerative changes in infants depend on maturity of nervous tissue constituting the background of pathologic process. The cases with two syndromes representative for small infants: progressive poliodystrophy of Alpers type and a degenerative syndrome with cerebral calcifications and disseminated demyelination were examined from this point of view. Our observations revealed that the stage of CNS development stipulates the type and topography of degenerative changes.

Migration disorders leading to a wide spectrum of brain malformations in a case with multiorganic dysgeneses: A new syndrome?

A case of a preterm infant who died with multiorgan, mainly cerebro-oculo-cutaneous malformations is presented. The brain dysgenesias consist of early disturbances of neuronal migration. They result on appearance of nodular subcortical heterotopias, cortical anomalies including pachy- and polymicrogyria and focal intrusion of numerous abnormally migrating nerve cells into leptomeninges. A various degree of nerve and glial cell maturity was observed within heterotopic tissue. The other malformations include eye, skin and internal organs anomalies. Similarities and differences between our case and another previously described cases were discussed but it seems difficult to include the analysed case into one of the known syndromes.

Different developmental rates of selected brain structures in humans.

Various rates of development are characteristic for particular structures of the human central nervous system (CNS). The differences of the maturing brain stem and telencephalon are evident in a routine neuropathological examination. The fetal and postnatal archi- and neocortex also reveals uneven levels of maturation. In order to precisely describe those differences in humans we performed a morphological and morphometric study on the dorsal vagal nucleus of the medulla oblongata, on Ammon's horn and on neocortex from midgestation to the 18th postnatal month. The numerical density of neurones, cell perikarya and nuclear cross-sectional area, and the ratio of nucleus to perikaryon area were measured. The results demonstrate a development-dependent decrease in cell density and progressive differentiation of neurones according to their changing size. They express a process of maturation which differs in rate across the CNS structures examined.

Astroglial reactions in periventricular white matter of maturing human brains.

The aim of the study was to examine the astroglial reactivity in brains of fetuses and newborns during the third trimester of gestation. The immuno-histochemical reaction of glial cells with glial fibrillary acidic protein (GFAP) was used. The periventricular white matter damage due to pre- and perinatal hypoxia or sepsis was examined in 11 cases of 28 to 40 weeks of developmental age. Observations of astroglial reaction expressed by the GFAP-positive cells confirmed its sensitivity. The number and hypertrophy of astroglial cells localized in periventricular white matter at parietal level coincide with the predilection of this area to perinatal brain damage.

Neurofibromatosis type 2. Case report.

A case of a 24-year-old woman with peripheral paresis of the facial nerve, balance disturbance, hearing loss and epileptic seizures for many years is presented. At time of admission to hospital cerebral magnetic resonance imaging (MRI) showed several large tumors situated supra- and infratentorially. Histological examination of the operated tumors revealed bilateral acoustic schwannomas in the cerebellopontine angles and mixed meningioma in the others. The patient was diagnosed as neurofibromatosis type 2 (NF2) according to clinical criteria for neurofibromatoses. Several months after the last operation, she exhibited weakness of all extremities. On spinal MRI an intramedullary tumor in the cervical region and additional focal lesions along central canal were found. Surgical therapy was not performed because of clinical improvement after dexamethasone treatment and location of lesion in cervical medulla. Our case confirms frequently occurring lack of neurocutaneous changes and late appearance of significant neurological symptoms in NF2.

The features of peripheral nerve lesions in young and adult rabbits after vincristine administration.

The comparison of neuropathological picture of vincristine induced neuropathy immediately after the end of its administration and after three months of survival was performed. The adult rabbits and six litters of newborns received vincristine once a week in increasing doses 0.05-0.25 mg/kg of body weight. The early changes consisted in degeneration of axons and myelin sheaths and lesions of the Schwann cells. The features of changes allow to suspect that vincristine may induce, in addition to the well known primary axonal damage, a toxic effect on the Schwann cells with secondary damage of myelin sheaths. The changes were more severe in adults than in young animals. The observations after three months of survival allow to think that the administered doses of vincristine did not impede the improvement when treatment was interrupted.

The vascularization of the developing human brain.

The principal rules of vascularization of developing central nervous system are presented. The angiogenesis as a mechanism of cerebral vessels formation was explained. The time of epiparenchymal plexus formation and penetration of endothelial channels into nervous tissue was reviewed evidentiating the correlation between the development of brain structures and their vascularization. Particular attention was devoted to the problem of formation and maturation of vessels within cerebral hemispheres, the rates of blood supply and drainage of their structures.

Vascular malformations associated with other congenital anomalies of the central nervous system: coexistence and possible causal relations.

Two cases of vascular malformations coexisting with other congenital defects of the central nervous system (CNS) are presented here. The first patient was a 14-year-old girl mentally retarded who demonstrated seizures and balance disturbances with onset in early infancy. The neuropathological examination revealed vascular malformations in the pons, diastematomyelia (triple central canal) in the sacral spinal cord and palleocerebellar granular layer dysplasia. The second patient was a 10-year-old boy hospitalized because of purulent dermatitis who suddenly developed recurrent generalized and focal motor seizures. The neuropathological examination disclosed multiple capillary teleangiectases with focal anomalies within cerebral cortex of the frontal and parietal lobes. The relations between several developmental anomalies in the CNS and possible causal relation between such malformations are discussed.