Clinical, radiological and genetic aspects of leukodystrophies.

The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q deletion syndrome, adrenoleukodysrtophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher leukodystrophy, Alexander disease and olivo-ponto-cerebellar atrophy (OPCA).

Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature.

The nevus sebaceus syndrome (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling seizures. Despite the proneness of the dermal stigmata to eventually undergo neoplastic transformation, the malformative lesions of the central nervous system rarely evolve into frank tumors. We present the case of a 10-year-old girl with left-sided sebaceus nevi, ipsilateral enlargement of the skull, and a desmoplastic neuroepithelial tumor (DNET) in the right fronto-parietal area of the brain. The tumor was removed by surgery. Histologically, it corresponded to a mitotically active small-cell anaplastic astrocytoma with genuine desmoplasia. Investigative methods included immunohistochemical positivity for glial fibrillary acidic protein, lack of expression of neuronal markers, and ultrastructural documentation of sheaths of basal lamina and collagen around tumor cells. A survey of the literature of brain tumors associated with NSS revealed two cases of histologically verified pilocytic astrocytomas, and one each of a choroid plexus papilloma, a mixed glioma, and a meningioma, as well as a subependymal giant cell astrocytoma--the latter possibly in an overlap syndrome of NSS and tuberous sclerosis. We hypothesize that the tumor described herein, one involving both atypical differentiation and enhanced growth potential, is paradigmatic of neuropathological events to be expected in the NSS.

[Dysembryoplastic neuroepithelial tumor]. / Dysembryoplasticus neuroepithelialis tumor.

The dysembryoplastic neuroepithelial tumor is a benign central nervous system neoplasm of children and young adults manifesting almost exclusively in complex partial seizures. The authors report the case of an 8-year-old boy presenting with characteristic clinical and radiologic features who subsequently underwent surgery. Light microscopic, immunohistochemical and ultrastructural traits of the tumor are described demonstrating pluripotential differentiation of tumor cells and architectural features suggesting a dysontogenic lesion. A brief literature review on the biology and histologic diagnosis of the dysembryoplastic neuroepithelial tumor is provided. Although this uncommon tumor accounts for only a minority of intracranial neoplasms, its pathogenetic role has to be considered in the differential diagnosis of temporal lobe epilepsies. This is the first report on this recently described, rare neoplastic condition in Hungary.

Hereditary nephritis, platelet disorders and deafness-Epstein's syndrome.

A 14-year-old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, moderate hypertension, macrothrombocytopenia (giant platelets, platelet number 30 x 10(9)/l) and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy revealed a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. A normal number of megakaryocytes was observed in bone marrow aspirates. The aggregation response of the platelets to collagen, epinephrine and adenosine diphosphate (ADP) was decreased. The platelet number was slightly diminished, platelets were of normal size in both parents and the brother, and showed a decreased aggregability in response to collagen, epinephrine and ADP in the brother and mother. No functional abnormality of the platelets was observed in the father. Urinalysis and kidney function were normal in the family members. This boy with nephritis, platelet disorders and hearing loss corresponds to Epstein's syndrome.

[Macrothrombopenia, nephritis and hearing loss--a new case of Epstein syndrome]. / Macrothrombopenia, nephritis és halláscsökkenés--egy új Epstein-syndromás eset.

A 14 years old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, macrothrombocytopenia (giant platelets, platelet number 30 G/l), and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy presented a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. With bone marrow aspiration normal number of megacaryocytes was observed. The aggregation response of the platelets was decreased on collagen, epinephrine and ADP but it was normal on aggristin. The presented case with nephritis, platelet disorders and hearing loss corresponds to Epstein syndrome, a variant of Alport's syndrome.

[Effect of oral contraceptives on developmental anomalies and on the sex ratio of newborn infants]. / Az orális kontraceptivumok hatása a fejlödési rendellenességek és az újszülöttek nemi arányának alakulására.

Several studies have suggested that maternal use of oral contraceptives before and early pregnancy may be associated with various congenital malformations. It had been found according to the computer-analysis of epidemiologic data of 17,031 single pregnancies--the use of oral contraceptives taken prior to conception or during early pregnancy has not been proved to increase the frequencies of the malformation of the offspring. On the other hand it was found, that oral contraception used before and in the early pregnancy increases the chance that infants delivered subsequently will be female.

[The value of determination of human chorionic gonadotropin beta subunit in extrauterine pregnancies]. / A human chorion gonadotropin béta-subunit meghatározás értéke méhen kívüli terhességekben.

The authors deal with the value of the avidin-biotin enzyme immunoassay (A-B-Elisa) which was introduced by them for the demonstration of human chorion gonadotropin beta subunit (HCG-b). It is pointed out that the possibility of the diagnosis of extrauterine pregnancy improved significantly by measuring the HCG-b level with A-B-ELISA method. The HCG-b hormone level over 5 mIU/ml refers to trophoblast activity and it is absolutely necessary to observe the patients in this case. In cases where the HCG-b level is low and the clinical symptoms are uncertain the patient must be kept under close observation and serial serum samples must be examined. Significant rise of HCG-b level refers to normal intrauterine pregnancy whereas a slightly rising, or unchanging or even decreasing hormone level suggest the possibility of extrauterine gravidity.

Activity of glucose-6-phosphatase in regenerating tubular epithelium in rat kidney after necrosis induced with mercuric chloride: a light and electronmicroscopical study.

The activity of glucose-6-phosphatase was investigated in the renal proximal tubules of male albino rats after necrosis induced with mercuric chloride. Between the 3rd and 14th days an active zone could be observed in the inner cortex, which in the control animals was inactive. As regeneration progressed, the number of regenerating active tubules in the cortex increased, and in the 4th week activity approached that of the controls. Ultrastructurally, the enzyme was localized in the endoplasmic reticulum and nuclear envelope and sometimes even in necrotic cells. It appeared again in the regenerating cells on the 4th day. Our histochemical results complement the published biochemical results on the analysis of tissue homogenates localizing the changes of enzyme activity. From this comparison we conclude that glucose-6-phosphatase may take part in either glucose degradation or gluconeogenesis, but whereas gluconeogenesis also occurs in the first part of the proximal tubules in the normal kidney, the enzyme may play a role in glucose consumption only under pathological conditions.

Histochemical studies on peroxisomes in regenerating proximal tubules of the kidney.

Peroxisomes of the regenerating proximal tubules of the rat kidney were investigated after necrosis induced by mercuric chloride. Slices both for light and electron microscopic examinations were incubated in 3,3'-diaminobenzidine (DAB) medium. Peroxisomes were absent in the necrotic epithelium. They appeared on the fourth day of regeneration and later their number increased reaching the normal distribution in the fourth week. They seem to be needed for the functional differentiation of the proximal tubule cells during regeneration.