Biomedical subjects
Publications and source records attributed to H Urich.
This is a clinical and neuropathological report of a 27-year-old male with partial trisomy of the long arm of chromosome 18. Severe psychomotor retardation, blindness, and epilepsy were the major clinical features. Microcephaly, an unusual diverticulum of the left occipital lobe, and severe atrophy of the visual system were the major findings on neuropathological examination.
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Serial biopsy specimens of a histologically proven cervical chordoma in a 57-year-old woman taken at intervals over a 7-year period, demonstrate a progression and complete transformation to a malignant fibrous histiocytoma 5 years following radiation therapy. Intermediate spindle-shaped cells demonstrating keratin positivity were discovered, lending credence to the theory of cellular transformation. Additionally, a fine reticulin network was noted around the chordoma cells. A review of the literature is undertaken chronicling the documented associations of chordoma and sarcoma, followed by a discussion of the various causes proposed to explain this phenomenon.
Two cases of prenatal porencephaly in young adults are reported with the aim of studying retrograde and trans-synaptic degeneration and comparing the findings with similar situations developing postnatally. The thalamic nuclei with cortical projections and the nuclei of the basal forebrain complex showed hypoplasia rather than typical retrograde degeneration, while the locus ceruleus was unaffected. The nuclei pontis and the cerebellum were essentially normal in spite of severe loss of corticopontine fibers. These striking differences between the effects of prenatal and postnatal lesions are ascribed to the greater plasticity of the developing, as opposed to the mature, brain.
Two neonates are presented with intrauterine necrosis of the brain stem. In one of the necrosis and calcification were multifocal and extended from the thalamus to the medulla oblongata. In the other the process was limited to the medulla, but was associated with severe hypoplasia of the nuclei pontis. In both cases the cerebellum was hypoplastic and immature for the gestational age. The connection between the two lesions remains obscure, and two hypotheses are discussed. One hypothesis ascribes the delay in cerebellar development to subliminal damage caused by the same insult that produced the brain-stem lesions, the other considers the possible effects of partial deafferentation on the maturation of the cerebellum.
A case is presented of the ataxic variety of Creutzfeldt-Jakob disease with particular reference to the cerebellar cortex. The main features were loss of granule cells, subtotal in the vermis, severe in the lateral lobes, mild to moderate loss of Purkinje cells and preservation of tangential and basket fibres. The Purkinje cell dendrites showed malorientation and hypertrophy of the primary and secondary branches, the so-called "antler" or "staghorn" deformity. These findings indicate that remodelling of the dendritic tree may start early in the course of the disease even in adults, the total length of history in this case being eight months. They do not throw any additional light on the pathogenesis of the dendritic abnormalities, in particular on the controversy whether they are a non-specific response of the Purkinje cell to a variety of noxious agents or a reaction to partial deafferentation. The authors favour the latter hypothesis.
A case is presented of a live-born infant with nonimmune hydrops fetalis who survived for 9 h. Neuropathological examination revealed extensive neuronal loss and gliosis in the subcortical gray nuclei suggestive of anoxic brain damage some weeks before birth. In addition the cerebellum was found to be hypoplastic and immature. Possible pathogenetic mechanisms in relation to the hydrops are discussed. In view of the scanty documentation of cerebral lesions in the literature, more detailed examinations of the central nervous system in all cases of hydrops are suggested.
A case of malignant epithelioid schwannoma arising in a benign schwannoma is described. The findings were supported by morphologic criteria as well as by a clinical history of recent growth of a long-standing mass adherent to the sciatic nerve, accompanied by evidence of metastatic spread. The light microscopic, ultrastructural, and immunohistochemical features are described, and the three previous cases of malignant change in benign neurilemmomas reviewed.
The gross and microscopic features of a 28-week-old stillborn female infant with severe cranial, facial, and cerebral malformations due to amniotic bands are described. The structure of the cerebral remnant is similar to that found in dysraphic anencephaly, but collateral evidence of amniotic band can usually be found. It is important to differentiate between the two conditions, since unlike neural tube defects, anencephaly due to amniotic band does not imply a risk of recurrence in subsequent pregnancies.
A case is presented of a 4.5-year-old child who died 5 days after the onset of a continuous hemiconvulsion and compared with three cases of established cerebral hemiatrophy. The laminar necrosis in the first case was strikingly similar in severity and distribution with the laminar cell loss in the others, thus producing additional evidence in support of the postictal aetiology of diffuse cerebral hemiatrophy. Particular attention was focussed on the pontocerebellar lesions. Three types of lesions were observed in the ipsilateral nuclei pontis: (1) focal neuronal necrosis in the acute stage, (2) focal neuronal loss, presumably the end result of the preceding lesion and (3) transneuronal atrophy. The contralateral cerebellar hemisphere showed the following abnormalities, singly or in combination: (1) necrosis of Purkinje cells in the acute stage, (2) loss of Purkinje cells and lobular sclerosis in advanced cases and (3) reduction in bulk of the hemisphere due to lesions in the nuclei pontis and degeneration of pontocerebellar fibres. These findings of the so-called crossed cerebellar atrophy.
Immunohistochemical staining for S-100 protein was carried out on one case of von Recklinghausen's neurofibroma and one of giant congenital nevus. Uniformly positive staining was obtained in all cells of the numerous pseudomeissnerian corpuscles in both cases. These structures thus appear, like the true Wagner-Meissner tactile nerve endings, to consist entirely of Schwann cells and not to contain any demonstrable perineurial component.
Dendritic plasticity in man is analysed on the example of the Purkinje cell. The conspicuous and easily demonstrable dendrites of this cell lend themselves particularly to such a study. Abnormalities of the dendritic tree have been observed in a variety of conditions, some of them originating in early infancy, others acquired in later life, all of them associated with a substantial loss of granule cells. While differences between the various diseases undoubtedly exist, the basic pattern remains remarkably constant. Three types of dendritic abnormality may be present: (i) persistence or neoformation of somal dendrites; (ii) expansion and malorientation of primary apical dendrites (the staghorn deformity); and (iii) bizarre ramification of secondary and tertiary dendrites, sometimes associated with expansions known as cactus, stellate or sunray figures. It is suggested that all these features should be interpreted as a response of the Purkinje cell to partial deafferentation and not as congenital malformations. In addition, dislocation of the Purkinje cell into the molecular layer is frequently seen in this group of cases. This may be ascribed to loss of tethering of the cell by its afferent fibres.
A condition is described in two siblings, dying in early infancy, characterized by an extreme degree of cerebellar hypoplasia, hypoplasia or atrophy of the brain stem with partial preservation of cranial and spinal nerve nuclei, total degeneration of basal ganglia and thalamus, laminar atrophy of the cerebral cortex, and accumulation of sudanophil lipid in astrocytes and macrophages of the hemispheric white matter. It is suggested that this condition, possibly inherited as an autosomal recessive, may represent a progressive multisystem atrophy occurring in utero, affecting various parts of the neuraxis in different stages in their development.
The neuropathological findings in two siblings with Menkes' disease were compared with representative material obtained from lambs suffering from swayback (enzootic ataxia). The aim of the study was to demonstrate the similarity of lesions in a genetic and a nutritional form of copper deficiency in support of the view that all lesions in Menkes' disease could be ascribed to simple hypocupraemia. All lesions of Menkes' disease were shown to have their counterpart in swayback, with exception of the abnormal arborisations of the Purkinje cell dendrites. These have often been interpreted as malformations and cited in evidence of the prenatal origin of the cerebral lesions. They are, however, non-specific and similar lesions have been reported in conditions arising in later life. While there is abundant collateral evidence of disturbed copper metabolism in utero, the problem of the prenatal versus postnatal origin of cerebral damage remains unresolved.
The neuropathology in two biochemically documented cases of propionic acidemia is presented. While spongiform changes in white matter were seen in the infant who died at 12 days, no such changes were evident in an older patient who died at age 23 months. These findings are compared with other aminoacidemias.
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Agenesis of the cerebellar vermis with fusion of the dentate nuclei and cerebellar hemispheres (rhombencephalosynapsis) is a rare cerebral malformation. We report the case of a 7-h-old girl whose mother had taken the drug phencyclidine during the first 6 weeks of pregnancy. Absence of septum pellucidum, hypoplasia of the commissural system, optic nerves, chiasm and tracts, moderate hydrocephalus, and agenesis of the posterior lobe of the pituitary were also found. Extracranial congenital anomalies involved the cardiovascular, respiratory, urinary, and musculoskeletal systems. Death was secondary to severe respiratory distress and bradycardia. The literature concerning this rare form of cerebellar malformation is reviewed.