ABSTRACT
A case of Ehlers-Danlos syndrome is reported, which was associated with mental retardation and early infantile autism. The patient died at the age of 19 by ectasy of the stomach as the result of extreme aerophagy causing a megacolon and by compression so finally resulting in a mechanical ileus. Investigation of the cerebellum revealed a significant rarefication and diminuation of the Purkinjè cells as well as the cells of the stratum granulare in the lobuli VI and VII, obviously due to a genetically determined malformation.
Subject(s)
Aerophagy/pathology , Ehlers-Danlos Syndrome/pathology , Intestinal Obstruction/pathology , Megacolon/pathology , Adolescent , Aerophagy/genetics , Cerebellum/abnormalities , Cerebellum/pathology , Ehlers-Danlos Syndrome/genetics , Hirschsprung Disease/genetics , Hirschsprung Disease/pathology , Humans , Intellectual Disability/genetics , Intellectual Disability/pathology , Intestinal Obstruction/genetics , Male , Megacolon/genetics , Purkinje Cells/pathologyABSTRACT
Despite the obviously more important degeneratively conditioned dementias, particularly of the Alzheimer-type, dementias due to vascular disorders are still of considerable relevance. They are even predominant among autopsies in a neurological-psychiatrical hospital, showing, however, a decreasing tendency. Though this cannot reflect the real incidence of a disease, because many cases of dementia die in geriatric or nursing homes, mostly not autopsied, exact epidemiological examinations of autopsy-cases seem to be advisable, limited temporarily and locally for economic reasons. Topographical specialities and modern methods of investigation in living persons increasingly enable a differentiation of vascular and degenerative dementias and thus frequently an effective treatment.
Subject(s)
Alzheimer Disease/pathology , Dementia, Vascular/pathology , Aged , Atrophy , Brain/pathology , Dementia, Multi-Infarct/pathology , Diagnosis, Differential , Female , Humans , Male , Middle AgedABSTRACT
Among 28 autopsy-cases with EMC had been none diagnosed clinically before. Typically we found an interstitial myocarditis and perivenous encephalitis with a preferred participation of the brain stem, eventually resulting in a central failure. There were only 5 cases with meningitis. Myelitis was not found. Former cardiac, less often cerebral lesions are likely risks for the lethal event.
Subject(s)
Death, Sudden/pathology , Encephalitis/pathology , Enterovirus Infections/pathology , Myocarditis/pathology , Adolescent , Adult , Aged , Cerebral Veins/pathology , Encephalomyocarditis virus , Female , Humans , Infant , Infant, Newborn , Male , Meninges/pathology , Meningitis, Viral/pathology , Middle AgedABSTRACT
It is reported on a mental retarded female, observed from 3-33 years of age, which demonstrated even in adulthood with long lasting shrill crying the clinical leading symptom of Lejeune syndrome and further typical symptoms with inhibition of physical maturation, important delayed motoric and mental development, microcephaly resp. characteristic craniofacial dysmorphia, anomalies of extremities, muscular hypotonia and susceptibility to infection. Psychically there were a striking affective instability and irritability, neuropathologically pachygyria and multiple cortical heterotopias.
Subject(s)
Brain/pathology , Cri-du-Chat Syndrome/diagnosis , Neuropsychological Tests , Adult , Cerebral Cortex/pathology , Cri-du-Chat Syndrome/pathology , Female , HumansABSTRACT
Morphologico-topographic differences, especially with regard to size and distribution of foci, as well as equalities of the histomorphological pattern are shown in an infantile and in a juvenile case of Leigh's disease. Almost identical microscopic findings in the area of the olives in the medulla oblongata seem to be of special importance. The typical symptoms at the beginning of the disease with predominance to muscular hypotonia and the bulbar paralytic final stage might at least enable a tentative diagnosis even without evidence to the basic enzymatic defect, mostly in pyruvate metabolism, and changes in mitochondria in muscles and the central nervous system. The morphological investigation should especially include the medulla oblongata.
Subject(s)
Brain Diseases, Metabolic/pathology , Leigh Disease/pathology , Medulla Oblongata/pathology , Child , Child, Preschool , Humans , Male , Olivary Nucleus/pathology , Spinal Cord/pathologyABSTRACT
Among 2000 dead we found a frequency of death by bolus of about 1% in neuropsychiatric patients in the course of 17 years. Severe oligophrenia mostly combined with epilepsy was leading with almost 50% followed by depressive syndrome, schizophrenia and dementia. Organic cerebral lesion, disorders of activity and vigilance, longterm psychopharmacotherapy, alteration of condition by acute internal disease and perhaps disorders of the liver are considered to be risks of death by bolus.
Subject(s)
Airway Obstruction/mortality , Death, Sudden/epidemiology , Neurocognitive Disorders/complications , Austria , Cross-Sectional Studies , Humans , Psychiatric Department, Hospital , Risk FactorsABSTRACT
It is reported on four girls aged 8 to 20 with Incontinentia pigmenti (Ip) The ectodermal dysplasia was associated with oligophrenia, therapy resistant epilepsy with severe psychorganic syndromes and dementia, Lennox syndrome, lability of emotion with severe disorders of social adaptations, spasticity, hypo- and areflexia, hemiathetosis, choreiform unrest, pathological EEG findings, including spike-potentials; relations to cleidocranial dysostosis, dysraphia, Poland's, Greig's and Chotzen's syndrome were found. Ip means unfavourable prognosis and progression of neuropsychiatric disorders.
Subject(s)
Incontinentia Pigmenti/pathology , Pigmentation Disorders/pathology , Abnormalities, Multiple/pathology , Adolescent , Adult , Child , Female , Humans , Nervous System Diseases/pathology , Skin/pathology , SyndromeABSTRACT
It is reported on a girl with a chronic encephalitis leading to death after 8 years. The course had first been typical for subacute sclerosing panencephalitis, but autopsy showed lesions of the brain typical for herpes simplex encephalitis.
Subject(s)
Encephalitis/pathology , Herpes Simplex/pathology , Subacute Sclerosing Panencephalitis/pathology , Brain/pathology , Child , Chronic Disease , Coma/pathology , Diagnosis, Differential , Female , Humans , Inclusion Bodies, Viral/ultrastructure , NecrosisABSTRACT
Description of a rare case of neurocutaneous Melanoblastosis. In a 25 year-old man there was an extraordinary massiveness of the tumor in the field of the cerebrospinal soft membranes. Tumor cells, relevant for diagnosis, from lumbal and suboccipital liquor could be shown. Nomenclature and pathogenesis of the disease are discussed.
Subject(s)
Melanoma/pathology , Meningeal Neoplasms/pathology , Neoplasms, Multiple Primary/pathology , Skin Neoplasms/pathology , Adult , Humans , Male , Meninges/pathologyABSTRACT
It is reported on a 19 year-old female patient with a mild mental retardation and a neurocutaneous syndrome. A tumour of a lateral ventricle had caused a partial blockade of the Foramen of Monro without symptoms of brain pressure. The patient shows lesions on the skin corresponding to a neurofibromatosis. Neurologically there was a choreatic syndrome, which can occur in transitional forms from neurofibromatosis to tuberous sclerosis (TS) of the brain. Psychologically a psychorganic syndrome, typical for TS, with disturbances of affectivity and motive developed. There was no essential improvement of the neurological and psychical symptoms by surgical removal of the brain tumour nor were there changes in the EEG except for an acceleration of the basic rhythm.
Subject(s)
Cerebral Ventricle Neoplasms/diagnosis , Neurofibromatosis 1/diagnosis , Skin Neoplasms/diagnosis , Adult , Diagnosis, Differential , Female , Humans , Tomography, X-Ray Computed , Tuberous Sclerosis/diagnosisABSTRACT
The case of a boy, observed from 9-17 years of age, with de Lange syndrome is described. The typical symptoms of the de Lange syndrome (brachymicrocephalie, characteristic face, hypertrichosis, typical form of the hand, debility and proportioned shortening) were combined with intensivity to pain and psychomotoric epilepsy. He showed a strikingly aggressive behaviour and simultaneous masochism with self-mutilation as it is typical for analgesia congenita. The autopsy showed cortical heterotopias of the brain and slight microgyria.
Subject(s)
Intellectual Disability/diagnosis , Pain Insensitivity, Congenital/diagnosis , Adolescent , Cerebral Cortex/pathology , Humans , Intellectual Disability/pathology , Male , Pain Insensitivity, Congenital/pathology , SyndromeABSTRACT
The case of a 15-year-old boy with Ehlers-Danlos-Syndrome (EDS) is described. Clinically the symptoms of considerable hyperextension of joints, abnormal extensibility of skin, moderate bleeding tendencies and slight vulnerability of the skin, deformity of the thorax are corresponding with type I of EDS. Ocular symptoms are missing. Histologically the picture is that of mitis type resp. type II of EDS. An autosomal dominant inheritance is to be supposed. Psychically an imbecillity likely as a result of perinatally acquired brain damage, and an autistic syndrome of broken home situation are present. Differential diagnosis and genetic significance of EDS are discussed.
Subject(s)
Ehlers-Danlos Syndrome/psychology , Neurocognitive Disorders/psychology , Neuropsychological Tests , Adolescent , Diagnosis, Differential , Ehlers-Danlos Syndrome/genetics , Humans , Male , Neurocognitive Disorders/geneticsABSTRACT
A report is given on the course of the disease in a 6.2-year-old girl with a cervical, histologically verified malignant haemangioendothelioma, who died two years after the appearance of the first symptoms. In connection with this case, the scarce information in the literature about this kind of tumour is analysed and differential diagnostic discussions of vascular tumours, such as the benign haemangioendothelioma, benign and malignant haemangiopericytoma, haemangioblastoma and angioblastic meningioma are presented.
Subject(s)
Cervical Vertebrae , Hemangioendothelioma/diagnosis , Spinal Neoplasms/diagnosis , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/surgery , Child , Combined Modality Therapy , Female , Hemangioendothelioma/surgery , Humans , Laminectomy , Myelography , Neoplasm Recurrence, Local/diagnosis , Spinal Neoplasms/surgery , Tomography, X-Ray ComputedABSTRACT
In order to substantiate the hypothesis of a cholinergic pathogenesis of neuritic plaques in Alzheimer's disease the relationship between the loss of cholinergic neurons in six subdivisions of the nucleus basalis of Meynert and density of neuritic plaques in five neocortical target areas and hippocampus was studied in five cases with Alzheimer's disease. Distribution of plaques in different cortical areas as well as degeneration pattern of neurons within the subpopulations of the nucleus basalis were markedly different in the cases of Alzheimer's disease. Quantitative evaluation of the number of neuritic plaques in the five cortical areas revealed a strong correlation with the loss of neurons in those subpopulations of the nucleus basalis which give rise to the cholinergic innervation of the affected cortical areas. The nonlinearity of this correlation may reflect two different modes of plaque formation. Either plaque formation is a self-perpetuating process with an increasing rate depending on the number of plaques already formed or additional mechanisms, with an increasing rate of influence during plaque formation are induced. The shape of the regression function is different for the various cortical regions and their corresponding subpopulations of the nucleus basalis suggesting a different dependency of neuritic plaque formation on the neuronal loss in the nucleus basalis. This might reflect a different density of cholinergic fibers within these areas, a different degree of collateralization of the fibers or other factors not yet known. The findings indicate that degeneration of cortical cholinergic afferents from the neurons of the nucleus basalis is an important feature in the pathogenesis of neuritic plaques.
Subject(s)
Alzheimer Disease/pathology , Basal Ganglia/pathology , Substantia Innominata/pathology , Aged , Cell Survival , Cerebral Cortex/pathology , Cholinergic Fibers , Female , Humans , Male , Mathematics , Middle Aged , Models, NeurologicalABSTRACT
The case of a 55-year-old man who died of a dimorphic bronchial carcinoma is described. Diagnostic uncertainties and consequences resulting from the cytological diagnosis are discussed.
Subject(s)
Carcinoma, Bronchogenic/pathology , Carcinoma, Small Cell/pathology , Carcinoma, Squamous Cell/pathology , Lung Neoplasms/pathology , Humans , Male , Middle AgedABSTRACT
A case of malignant paraganglioma of the right carotid bifurcation with metastases in the vertebral bodies in a 63-year-old man is reported. The criteria for malignancy in paragangliomas are discussed and special attention is paid to the difficult morphological differential diagnosis of these tumors and their metastases as illustrated by the present case.
Subject(s)
Carotid Body Tumor/pathology , Spinal Neoplasms/secondary , Carotid Body/pathology , Carotid Body Tumor/diagnosis , Carotid Body Tumor/secondary , Diagnosis, Differential , Humans , Male , Middle Aged , Spinal Neoplasms/pathology , Spine/pathologyABSTRACT
In order to substantiate the hypothesis of a cholinergic matrix for neuritic plaque formation in Alzheimer's disease (AD), the relationship between the loss of cholinergic neurons in the basal forebrain and formation of neuritic plaques in the cerebral cortex was studied in 5 cases of neuropathologically verified AD. Quantitative evaluation of the number of neuritic plaques in the cerebral cortex as calculated from 6 areas showed a strong correlation with the loss of neurons in the nucleus basalis of Meynert (NbM). This finding indicates that changes in cortical cholinergic innervation which arise from the neurons of the NbM are an important feature in the pathogenesis of neuritic plaques.
Subject(s)
Alzheimer Disease/pathology , Basal Ganglia/pathology , Cerebral Cortex/pathology , Neurofibrils/ultrastructure , Substantia Innominata/pathology , Acetylcholinesterase/metabolism , Afferent Pathways/pathology , Hippocampus/pathology , Humans , Microscopy, Electron , Middle Aged , Nerve Degeneration , Neurons/ultrastructure , Septal Nuclei/pathologyABSTRACT
As a result of the autopsy reports of the Pathological Institute of M uhlhausen in a twenty-year-period from 1960 to 1979 there were 4.8 per cent (n = 219) malformations of the digestive tract among the 4,561 autopsies of stillborn children and live-born ones up to their 16th year of age. Lip, jaw and plate clefts, defects of diaphragm as well as oesophagus atresia and stenosis predominate among the various malformations. The malformations were classified and discussed according to nature, combinations, and sex differences as well as with respect to importance for mortality, territorial and time distribution.
Subject(s)
Digestive System Abnormalities , Abnormalities, Multiple/epidemiology , Adolescent , Age Factors , Autopsy , Child , Child, Preschool , Female , Germany, East , Humans , Infant , Infant, Newborn , Male , Organ Specificity , Sex FactorsABSTRACT
As a result of the autopsy reports of the Pathological Institute of Mühlhausen in the twenty-year period from 1960 to 1979 there were 4.8% (n = 180) malformations of the skeletal system among 4,561 autopsies of still-born and live-born children up to their 16th year of age. Club-foot was the most frequent malformation followed, with decreasing frequency, by inborn anomalies of the spinal column, syndactylia and polvdactylia as well as dysmelia. The malformations were classified and discussed according to nature, combinations and sex differences as well as with respect to territorial and time distribution.
