Biomedical subjects
Publications and source records attributed to J Peiffer.
A number of previously unreported neuropathological findings in 31 unselected coastal Papua New Guineans are discussed. A peculiar and previously unknown calcification around the ventral surface of the medulla oblongata in two children is described in detail. Our results suggest that more frequent neuropathological investigations are needed in Papua New Guinea.
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In autopsied brain tissue from three cases with Leigh disease (subacute necrotizing encephalomyelitis, SNE) and controls, the activity of pyruvate dehydrogenase complex (PDHC) was determined under different conditions. It was found to be at the control level or increased, but not deficient. The activities of succinate dehydrogenase, fumarase, succinate cytochrome c reductase, cytochrome c oxidase, and glutamate dehydrogenase were measured as additional mitochondrial markers and showed no essential differences between SNE and control tissue. The metabolic defect in SNE remains unknown. According to the literature, the defect may be localized to the mitochondrial systems. However, the reported results indicate that it cannot be ascribed to PDHC function. Extensive biochemical studies are necessary for understanding of the pathogenesis in the fatal genetic metabolic disease.
A large endocrine active pituitary adenoma causing a Cushing's syndrome was investigated for the presence of subunits of the corticotropin-lipotropin precursor by immunohistology. A quantitative study revealed immunoreactivity (ir) for ACTH in 87.1% of the adenoma cells, beta-lipotropin-ir in 77.1%, beta-endorphin-ir in 75.3%, alpha-MSH-ir in 22.9% and methionine-enkephalin-ir in 7.8%. The adjacent distal pituitary gland showed a six-fold increase of prolactin-ir cells indicating the release of biologically active endogenous opiates. The strong alpha-MSH-ir within the adenoma cells in contrast to those of the distal pituitary may signify that alpha-MSH was being secreted by the adenoma. The proportions of other endocrine cell types within the anterior pituitary were normal (3.1% corticotrophs, 49.4% somatotrophs, 8.2% gonadotrophs and 7.1% thyrotrophs). 0.5% of the cells of the distal pituitary and 0.1% within the adenoma were VIP-ergic, which may be due to a vasoregularitory system and/or be involved in prolactin release.
In a four and a half-year-old boy with a progressive cerebral process in his last year of life the arylsulfatase A (ASA) and cerebroside sulfatase activity was lowered to values only slightly above those of metachromatic leukodystrophy (MLD) homozygotes. Morphologically, however, the brain showed a diffuse-disseminated sclerosis without any findings of MLD. The enzyme findings including the reduced ASA values in both parents suggested that our proband was a mixed heterozygote both of MLD and pseudo-ASA-deficiency, but casually suffered from that inflammatory demyelinating process. An additional biochemical finding was the moderate increase of brain sulfatides which can be seen in relation to the mixed heterozygosity for ASA deficiency.
The comparative electrophysiologic, histochemical, and biochemical investigation of the anterior tibial muscle of 13 alcoholics indicates that neuropathy could be the cause of the chronic muscle weakness and wasting. Myopathic alterations did not predominate in the findings. It was concluded that the proximal muscle atrophy could also be attributed to neurogenic damage. Histochemical reactions in muscle specimens showed a selective type 2 atrophy and a slight increase of the mean diameter of type 1 fibres. Biochemical investigations revealed that the activities of a number of enzymes representative of energy supplying pathways--the glycogenolysis and glycolysis--as well as acid phosphatase activity in the muscle were lowered. A relationship could be assumed between the lowered glycolytic activity and the decline of the mean diameter of type 2 fibres. Oxidative enzymes were of similar activity in the alcoholics and the control group. The glycolytic enzyme activities were particularly important, being the most sensitive indicators of the onset, intensity, and course of neurogenic damage. These activities probably normalise during reinnervation of a muscle earlier than do the morphologic alterations; however, they were markedly lower in alcoholics with impaired liver function and cachexia, probably because of the catabolic metabolic conditions present in these cases.
A fatal recurrence developed 28 years after conventional X-ray therapy of a hypophyseal adenoma with a focal dose of 10340R. An organic psychosyndrome of many years preceded the recurrence. The immunocytologic examination of the recurrent tumor showed a prolactinoma. As radiogenic fibroses without primary parenchyma necrosis, massive angiofibroses within tumor, hypothalamus, and neostriatum and less massive angiofibroses in the cerebrum and cortex of cerebrum are opposed to the classical late radiation damage with plasmatic infiltration necrosis.
A new family with the Gerstmann-Sträussler type of subacute spongiform encephalopathy is described. Atactic symptoms, dysarthrias, and personality changes characterized the clinical course. The clinical pattern of a father and his two sons was very similar. They had been in contact with sheep by occupation. A rapidly progressing demyelinating disease (transitional diffuse-multiple sclerosis) occurred in the same family, as well as numerous cases of carcinoma. Morphologically, the Sträussler type can be differentiated from other subacute spongy encephalopathies by the occurrence of Kuru-Plaques and numerous multicentric floccular plaques both in the cerebral and cerebellar cortex, basal ganglia, and white matter.
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In three of 32 patients with epidural haematomas calcifications and ossifications of the bleeding were found. Quickly developing (3 to 7 weeks) ossifications could be demonstrated by repeated X-rays and CT of the skull in partial drained or untreated haematomas. No ossification could be observed in the remaining 29 cases, in which the haematomas were completely removed. The growth of the ossification from the parietal to the visceral side within the capsules of the haematomas could be monitored in its progress by CT and was histologically verified. The underlying pathological mechanisms are discussed.
Observations on two patients from unrelated families are reported. Both patients were 32 years old and suffered from a congenital affection of the skeletal muscles. In one (case 2) congenital paresis of the dilator muscle of pupil and cardiomyopathy were also present. In both cases muscle biopsy showed pathologic variations of muscle fiber caliber, and in case 1 atrophic fibers were grouped in some places. Inclusions consisting of dense granular and fine filamentous components were found in skeletal muscle fibers, in about a third of the fibers in case 1 and in about a tenth of the fibers in case 2. The shape and submicroscopic structure of these inclusions were consistent with so-called cytoplasmic bodies. Surrounding or apart from the inclusions, the streaming of Z disks or their disintegration were observed. In addition, pure filamentous bodies occurred in the subsarcolemmic position in both cases. Although cytoplasmic bodies are a nonspecific type of inclusion, they were the outstanding structural anomaly in both cases. A basic defect of myofilament biosynthesis is considered to be the cause of the disorder. It is presumably evoked by a neurogenic factor affecting the trophic influence of the neuron on the muscle cell. The course of the disease may (case 1) but need not (case 2) terminate in severe impairment of skeletal muscle function.
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A female patient, who died at the age of 61 and had suffered from several manic-depressive psychoses for more than 30 years, developed three phases of intoxication under lithium therapy. There was a 15-year history of electro- and Pentetrazol-induced convulsive therapy prior to lithium medication; neuroleptics were still administered during lithium therapy. The last lithium intoxication, 3 years prior to death was during a low-dosage therapy with normal lithium levels followed by severe lasting impairment: akinesia, rigidity, dysarthria, ataxia, and an organic alteration in character. For the first time, neuropathological findings could be established in such a case: extensive damage to granule and Purkinje cells in the cerebellum; gliosis in the dentate nucleus, the inferior olives, and the nucleus ruber; cytoplasmic inclusions in various nerve cells of the cranial nerve nuclei; cytoplasmic vacuoles, especially in the cells of the supra-optic nucleus. Surprisingly little damage could be found in the substantia nigra and in the neostriatum. The clinical course as well as the pattern and intensity of the brain damage oppose an interpretation as a consequence of preceding convulsive shock therapy.
One fetus (20 weeks old) and two postnatal cases with Niemann-Pick disease type C (a group of unclear neurovisceral lipidoses characterized by foam cells in the bone marrow and sometimes supranuclear ophthalmoplegia) were studied with respect to the pH-dependency of brain sphingomyelinase activity. A distinct reduction of activity in the pH 5 range of the fetus was contrary to an almost normal pH profile in the postnatal cases including the sibling of the fetus. The sphingomyelinase anomaly does not seem to reflect the genetic defect, since it is paralleled by a similar anomaly of glucocerebrosidase activity. A pathologic subcellular localization of more than one lipid hydrolasis is discussed.
A primary Burkitt-type lymphoma of the CNS was reported which developed in an 11-year-old boy 6 months after extirpation of an astrocytoma. Primary Burkitt-type lymphomas have been described only twice in the literature. The morphological aspect is interesting with regard to the problem of collision tumors.
A 6 1/2-year-old child, who had suffered a depressed fracture of the skull at the age of 1 1/2, had an extensive tumor of the scalp. Microscopic evaluation showed the growth to be a pseudotumor. The spongy tissue proved to be a chronic subdural hygroma containing structures resembling pacchionian granulations. A CSF fistula was demonstrated surgically. The fistula was assumed to be responsible for the metaplastic proliferation of subcutaneous and galeal connective tissue. A growing fracture was not present.
For several months a 14-year-old girl had suffered from increased intracranial pressure which in spite of extensive calcification in the fourth ventricle had not been recognized. During the operation a plum-sized tumour was found free moving in the fourth ventricle. Being hard as bone it had to be extracted in toto. The histological examination showed a highly calcified endotheliomatous meningioma. Recovery without complications. For seven years a 12-year-old boy had a tumour in the third ventricle which has not been operated on. Partial removal of the endotheliomatous meningioma without complications. Meningiomas in childhood are rare and are usually intraventricular. They originate in the arachnoidal cells of the choroid plexus.
Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within the cerebellar white matter. The coexistence of overdeveloped and remaining fetal structures is emphasized. Several hypotheses regarding cerebellar dysgenesis are discussed.