[Early infantile autism and excessive aerophagy with symptomatic megacolon and ileus in a case of Ehlers-Danlos syndrome].

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.

[Vascular (arteriosclerotic) and Alzheimer's dementia in neurologic-psychiatric patient sample].

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.

[Encephalomyocarditis syndrome (EMC syndrome)].

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.

[Neuropsychiatric and neuropathologic findings in an adult case of cri-du-chat syndrome (Lejeune syndrome, crying cat syndrome)].

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.

[Leigh disease. Morphology and clinical aspects].

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.

[Death caused by a bolus at a psychiatric hospital].

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.

[Incontinentia pigmenti as the leading symptom].

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.

[Unusual course of necrotizing encephalitis].

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.

[Description of neurocutaneous melanoblastosis].

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.

[Neurocutaneous syndrome with a ventricular tumor].

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.

[Cornelia de Lange syndrome (I) with analgesia].

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.

[Concomitant neuropsychiatric symptoms in a case of Ehlers-Danlos syndrome].

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.

[Malignant paraganglioma].

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.

Neuronal loss in different parts of the nucleus basalis is related to neuritic plaque formation in cortical target areas in Alzheimer's disease.

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.

[Cervical hemangioendothelioma in childhood].

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.

[Cytological-histological case study of a dimorphous bronchial carcinoma].

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.

Correlation between cortical plaque count and neuronal loss in the nucleus basalis in Alzheimer's disease.

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.

[Abnormalities of the digestive system in autopsy material of children].

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.

[Abnormalities of the skeletal system in autopsied children].

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.

[Malformations of the urogenital system in autopsy material of children].

As a result of the autopsy reports of the Pathological Institute of Mühlhausen in the twenty-year-period from 1960 to 1979 there were 6.4% (n = 293) malformations of the urogenital system among 4,561 autopsies of still-born and live-born children up to their 16th year of age. Besides anomalies of the genital system, anomalies of the lower urinary tract, cystic kidneys, anomalies of kidney forms and dystopia as well as kidney agenesis were most commonly observed.

[Psychiatric disorders and growth of brain tumors].

In 49 of 365 clinical and patho-anatomical intracranial tumour cases the tumours were indicated in the anamnesis only by mental disturbances before acute signs of brain pressure appeared. With reference to the relations between the psychopathological syndromes and the types of locations of tumours attention is drawn to factors that may complicate the early detection of tumours.

Loss of neurons in the nucleus basalis of Meynert in Alzheimer's disease, paralysis agitans and Korsakoff's Disease.

The nucleus basalis of Meynert, the major source of cholinergic innervation of the cerebral cortex, was morphometrically investigated in 58 cases of neuropsychiatric disorders and compared to 14 controls. The results demonstrate a loss of neurons in the nucleus basalis of Meynert in Alzheimer's disease (70%), paralysis agitans (77%), and Korsakoff's disease (47%) but no marked reduction of neurons in postencephalitic parkinsonism, Huntington's disease, chronic alcoholism without dementia, schizophrenia and infantile brain damage. Neurons of the three subdivisions of the nucleus basalis of Meynert (the nucleus septi medialis, the nucleus of the diagonal band of Broca and the nucleus basalis Meynert neurons in the substantia innominata) may be affected in a different manner in different patients within a single group homogeneous with respect to the usual clinical and neuropathological diagnostic criteria.

[Malformations of the heart and vascular system in autopsy material of children].

As a result of the autopsy reports of a twenty-year-period from 1960 to 1979 there were 7.1% (n = 324) malformations of the heart and vascular system among 4,561 autopsies of still-born children and live-born ones up to their 16th years of age. Septal defects of the heart are most commonly observed.

[Central nervous system malformations in autopsy material].

As a result of the autopsy reports of a twenty-year-period from 1960 to 1979 there were 5.5 per cent (n = 251) malformations of the central nervous system among the 4561 autopsies of still-born children and live-born ones up to their 16th year of age. Hydrocephalus predominates followed by disturbances of migration and dysraphias in head and spinal region.