0000000000001798
AUTHOR
H. H. Goebel
Pathomorphology of hereditary sensory neuropathies
Currently, the hereditary sensory neuropathies (HSN) — because of the involvement of the autonomic system recently called HSAN — comprise types I–V predicated on clinical differences. This classification of HSAN I–V seems to be uncontested, at the present time. Morphologically, individual forms I–V only differ in the non-specific loss or lack of myelinated and unmyelinated nerves in varying degrees in that in HSAN II large myelinated axons are most affected, in HSAN IV unmyelinated axons are almost absent; but each HSAN is considered an axonal type of neuropathy. Early onset, slow or no progression of the neuropathic process, and little or no evidence of ongoing degeneration suggest maldeve…
Myoadenylate deaminase deficiency
Myoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD …
Ultrastructural study of primary canine and human pigmentary retinopathy
An electron microscopic study was performed on eyes of Labrador dogs afflicted with progressive retinal atrophy (PRA). There was complete loss of photoreceptors, atrophy of the remaining retina and gliosis in the peripheral part while the central retina showed incomplete loss of photoreceptors and an almost total disappearance of photoreceptor outer segments. Melanin-bearing cells, largely containing melanolysosomes, were found deep inside the retina. This electron microscopic study also incorporated the retina of a middle-aged woman affected by retinopathia pigmentosa (RP). The fine structure of the diseased retina showed a similar pattern of lesions, more pronounced in the periphery of th…
Chemical heterogeneity of amyloid in the carpal tunnel syndrome
140 biopsies from 108 patients afflicted with the carpal tunnel syndrome were studied, 27 of whom showed deposition of amyloid, in 6 of them to such an extent that the amyloid was considered significant in the pathogenesis of the carpal tunnel syndrome. Morphologically, vessels and ligaments were affected and especially the peritendinous structures. As it was always part of generalized amyloidosis, the amyloid in the carpal tunnel consisted immunohistologically of amyloid A in three cases (including one case with simultaneous amyloid deposition of the AA- and the AB-type), of amyloid A kappa in one case, of amyloid of prealbumin origin in seventeen cases and of AB-amyloid in eight cases. We…
Komplikationen nach Zelltherapie
Nach wie vor durfen tierische Frischzellpraparationen zur sog. Zellulartherapie verabreicht werden unter der Vorstellung einer allgemeinen Vitalisierung und Roborierung des Organismus, insbesondere des Immunsystems. Die Verwendung von Trockenzelltherapeutica hat das Bundesgesundheitsamt bereits 1987 vorlaufig verboten, nicht ohne darauf hinzuweisen, das auch gegen die sog. Frischzelltherapie schwerwiegende Bedenken bestunden, das ein generelles Verbot auch dieser Behandlungsweise jedoch nicht in seiner Kompetenz lage. Wiederholt waren z.T. lebensbedrohliche und auch todliche Komplikationen im Verlauf dieser Therapie beobachtet und beschrieben worden. Den bereits publizierten Beobachtungen w…
Congenital intracranial tumors
Tumors that are diagnosed already at birth or during the first or second week of life are called congenital tumors. They represent a special challenge to pediatric oncologists and to surgeons, and are relatively rare. From 1956 to August 1983 in the Pediatric Department of the University Hospital of Mainz, 1.027 children with tumors were observed and treated, 16 of them with congenital tumors. Among 479 tumor patients from 1956 to 1972 there was only one child with a congenital tumor; but from 1973 to 1983 there were 15 cases. Possibly, the absolute number of congenital tumors is increasing!
Diagnostic morphology of human eye-related storage disorders
While retina and other ocular tissues are involved clinically and morphologically in a variety of lysosomal disorders, it is only the conjunctiva that is accessible by biopsy to morphological, i.e., electron microscopic recognition of the patient's individual lysosomal disease. However, this procedure is not utilized by many. Instead, skin and circulating lymphocytes are the most frequently obtained tissues for diagnostic investigation, as skin contains an abundance of diversified cell types for morphological examination and simultaneously fibroblasts to be cultured for biochemical investigation. It is the tissue most suitable for identifying lysosomal disorders and parallels in diagnostic …
Eye Movement Involvement in Parry-Romberg Syndrome: A Clinicopathologic Case Report
We report the case of a 38-year-old woman who developed a progressive bilateral disease in which the eye motility disorder-diplopia-is the outstanding feature over a period of 12 years. The muscle biopsy of the medial rectus muscle did not show any trace of striated muscle. To the best of our knowledge, this is the first pathological report in an affected extraocular muscle of a patient with Parry-Romberg syndrome (PRS). Previous rare reports of diplopia in PRS have been attributed to enophthalmos, progressive atrophy of the orbit, ocular motor nerve dysfunction, or mechanical restrictions.
X-Linked Dilated Cardiomyopathy.
We report on a family with a severe form of X-linked dilated cardiomyopathy (DCM). Two brothers, the elder requiring heart transplantation, and a maternal cousin presented elevated creatine kinase levels, increased right ventricular diameters and electrocardiographic abnormalities. All complained of exertional cramping myalgia, but none had muscle weakness or a pathological electromyogram. Muscle biopsies of these individuals revealed a mild myopathic picture with atrophic type I and hypertrophic type II fibers. Immunofluorescence using N- and C-terminal antibodies (dys-2, dys-3) against the dystrophin protein showed preserved, but reduced intensity of staining of the sarcolemmal membranes.…
Immunohistopathology in Diagnostic Neuropathology
Within the field of surgical pathology, immunohistochemistry is now frequently applied to the morphological diagnosis of lymphomas (11), certain carcinomas and other selected types of tumor (12). In neuropathology, the study of neuro-oncological and non-neoplastic diseases may also receive diagnostic support from performing immunohistological techniques, which encompass immunofluorescent and immunoperoxidase methods. The following report represents a survey of our experience in this recently developed field of diagnostic neuropathology.
Congenital myopathies - a comprehensive update of recent advancements
The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects.