Search PubMed⌕ Search

Biomedical subjects

A Bischoff

Publications and source records attributed to A Bischoff.

At least 145 records · Page 8Linked to original sources
PubMed1977

Giant axonal neuropathy. Report of a case with normal hair.

A further case of giant axonal neuropathy is described. The diagnosis was made by sural nerve biopsy in a boy presenting signs of a progressive spinocerebellar syndrome with polyneuropathy. Ultrastructurally a severe abnormality of this peripheral nerve, with loss of thick myelinated nerve fibers and the presence of giant axonal swellings was evident. The axonal swellings appeared to be caused by an accumulation of filaments which were also present in Schwann cells, as well as in endothelial and perineurial cells, justifying the term of "generalized microfibrillar hyperplasia". It is most remarkable that the patient's hair was not unusual, in contrast to the previously reported cases who had "kinky hair".

Adult↗
PubMed1976

Sequence of morphological alterations in the nervous system of metachromatic leucodystrophy. Light- and electronmicroscopic observations in the central and peripheral nervous system in a prenatally diagnosed foetus of 22 weeks.

Light and electronmicroscopic findings are reported in a case of metachromatic leukodystrophy diagnosed prenatally who died after iatrogenic abortion during the 23th week of gestation. The brain of this foetus was not yet myelinated while the spinal cord showed early, and the peripheral nerves advanced myelination. The onset and the degree of myelination were similar as in a normal foetus of the same age. Ultrastructurally there was evidence of sulphatide storage before the beginning of myelination. During myelination lysosomal storage material, staining metachromatically in acid cresyl violet preparations, appeared in oligodendrocytes and Schwann cells. Besides sulphatide storage material, prominent amounts of neutral lipids were found in oligodendrocytes. Myelin breakdown was encountered very seldom.

Central Nervous System↗
PubMed1976

Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy: light- and electronmicroscopic studies of serial nerve biopsies.

Serial nerve biopsies were performed at an early, and at an advanced stage of the disease in 2 patients with progressive neural muscular atrophy. The early biopsy showed a complete loss of the large diameter and thickly myelinated fibres, as well as an expansion of the endoneurial interstitium in both cases. Myelinated and unmyelinated fibres exhibited axonal degeneration in all biopsies occasionally. "Onion bulb" formation, a typical feature of peripheral neuropathy in neural muscular atrophy, was found to be prominent only in the latter biopsies. As regards the formal pathogenesis of hypertrophic neuropathy in neural muscular atrophy, axonal dystrophy and interstitial changes of the endoneurium were regarded as primary phenomena, demyelination and "onion bulb" formation as secondary. A possible causal relation between axonal dystrophy and interstitial changes, observed in these cases, is discussed in the light of the present literature.

Adolescent↗
PubMed1975

Niemann-Pick's disease. Clinical, biochemical and ultrastructural findings in a case of the infantile form.

A diagnosis of Niemann-Pick disease type A was made in a 6-month-old boy on the grounds of progressive psychomotor retardation, hepatosplenomegaly, typical foam cells in the bone marrow and a deficiency of sphingomyelinase in a liver biopsy. Typical ultrastructural changes in lysosomes were found in hepatocytes and in Schwann cells. In spite of the absence of gross morphological changes in the axons and in the myelin sheath of the peripheral nerve biopsy, the nerve conduction velocity in the patient was greatly reduced. The ultrastructural aspect of the lysosomal inclusion suggested the storage of a phospholipid. Biochemical analysis of the liver biopsy demonstrated an increased content of total phospholipid of which sphingomyelin made up for more than 60%. The significance of these data are discussed.

Cholesterol↗
PubMed1975

Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.

Age Factors↗
PubMed1975

[Polyneuropathy in vitamin B 12 and folic acid deficiency. Clinical and histopathological study with electron-microscopy analysis of the sural nerve].

One case each of pernicious anemia and folic acid deficiency with chronic malabsorption with disease of the cord and histologically demonstrated concomitant disease of the peripheral nerve system in the sense of a polyneuropathy are described. The histological findings of nerve obtained by biopsy show, in both cases, the loss of individual nerve fibers as an expression of a chronic axonal degeneration. The pathogenetic basis to be considered in these cases is presented.

Aged↗
PubMed1975

Oligodendroglial cell development in jimpy mice and controls. An electron-microscopic study in the optic nerve.

Glial development was studied in the optic nerve of 1- to 28-day-old Jimpy mice and controls. Abnormalities were found in oligodelopment and axons were not affected. These consisted in (a) Increased numbers of glioblastic cells containing lipids and increased occurrence of glial cell death in the premyelination stage; (b) Decreased numbers of maturing oligodendrocytes (i.e. young and active oligodendrocytes) in the period of early myelination; (c) An occurrence of abnormal oligodendroglial cells containing lipids and multimembranous tubes in the period of advanced myelination. The decreased number of maturing oligodendrocytes in the premyelination stage indicates that the lack of myelin in Jimpy mice may be secondary to a disturbance in the differentiation of the oligodendroglial cell line. The occurrence of abnormal, lipid-containing glioblasts and oligodendrocytes may be an expression of a defect in metabolism leading to an abnormality in the association of myelin proteins and myelin lipids.

Animals↗
PubMed1975

Progressive neural muscular atrophy in a case of phenylketonuria.

Clinical, neurophysiological and nerve-biopsy findings are described in a 13-1/2-year-old boy with classical phenylketonuria who developed progressive muscular atrophy. Clinical examination revealed atrophy of the calf muscles and pes varus. Tendon jerks were brisk in the upper extremities but were absent in the right leg and weak in the left leg. Nerve conduction velocities of the median and peroneal nerve were strongly reduced. Light- and electronmicroscopic investigation of sural nerve biopsy revealed axonal dystrophy and 'onion-bulb' formation of the Schwann cells. It is assumed that the combination of phenylketonuria and progressive muscular atrophy in this patient is an accidental occurrence.

Adolescent↗
PubMed1975

Prenatal metachromatic leukodystrophy.

In a family with a metachromatic leukodystrophy patient, two further pregnancies at risk were monitored by amnion cell culture. In one case, a normal baby was predicted and born. In the other case, a prenatal deficiency of arylsulfatase A was found. The diagnosis of metachromatic leukodystrophy was confirmed biochemically in various organs of the fetus by the deficiency of arylsulfatase A. The residual enzyme activity was shown to have an abnormal pH optimum and an increased heat stability. Ultrastructural studies revealed lipid storage in the myelinating nervous system and in the liver. For the interpretation of morphological results, it was indispensable to analyze an age-matched control fetus.

Arylsulfatases↗