Biomedical subjects
Publications and source records attributed to G T Bots.
Five patients with a cutaneous T-cell lymphoma (four with mycosis fungoides and one with a primary cutaneous T-immunoblastic lymphoma) who developed neurological sequelae are reported. In four of them, central nervous system involvement could be demonstrated at autopsy. The importance of early cerebrospinal fluid examination in these patients is stressed.
A case of Hodgkin's disease with eosinophilia in the cerebrospinal fluid without blood eosinophilia is presented. An additional remarkable feature was the finding of eosinophilia in Auerbach's myenteric plexus. Cerebrospinal fluid eosinophilia is usually associated with blood eosinophilia and this is often caused by helminthic infections of the CNS. The finding of cerebrospinal fluid eosinophilia without blood eosinophilia in any patient with Hodgkin's disease should point the physician to the possibility of a localization of tumour in the CNS.
In an electron microscopic study neuronal nuclear membrane indentations and astrocyte/neuron ratios in the nucleus accumbens, caudate nucleus and frontal cortex were counted in 30 Huntington's disease patients and 23 controls. Discriminant analysis was performed and resulted in a discriminant equation, which was able to recognize all controls correctly. Three Huntington patients were not correctly recognized, although in only one patient the probability of being a control was higher than being a Huntington patient. This discriminant equation was used in four choreatic patients with a negative family history. Two patients were indicated as controls, one patient as being a Huntington patient, and one as dubious. The diagnostic yield of discriminant analysis is discussed.
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A patient is reported who presented with a typical intestinal pseudoobstruction syndrome. Before this illness, the patient had suffered from measles encephalitis at the age of 15 months. A postencephalitic syndrome was present which included severe mental retardation, parkinsonism, and epilepsy. There were no relatives with a similar disease. Clinically, there was a frank recurrent pseudoobstruction syndrome with occasional diarrhea. Radiographic barium studies showed delayed transit, hypomotility of the intestines, and gross distension of the esophagus, stomach, small intestine, and colon. Histological examination of the gastrointestinal tract revealed a normal appearance of the mucosa; however, there was a hypertrophic muscle layer with abnormalities of the plexuses. Both the submucosal and the myenteric plexuses were reduced in number and size. They showed a decreased number of ganglion cells, proliferation of Schwann cells and infiltration by lymphocytes. The abnormalities were most strikingly present in the esophagus and the small intestine. The intestinal neuropathy resulting in clinical pseudoobstruction is proposed to be part of the generalised neurological pathology as a late sequel to the measles encephalitis.
Among 53 patients with hereditary protein C deficiency belonging to 20 families three women were encountered who, aged 27, 34, and 38 respectively, had had cerebral haemorrhagic infarction, probably due to intracranial venous thrombosis. All three had also had venous thrombosis of the leg and pulmonary embolism either before or after their cerebral infarction. One patient sustained cerebral infarction while receiving an oral contraceptive, but infarction in the two others occurred "spontaneously." One patient also had an intraventricular and subarachnoid haemorrhage during the induction phase of coumarin treatment, which was assumed to have resulted from haemorrhagic infarction of the chorioid plexus, analogous to coumarin provoked haemorrhagic skin necrosis in protein C deficiency. Hereditary protein C deficiency should be considered in young patients with acute or subacute cerebral symptoms, especially if they have a family or personal history of venous thromboembolism.
A large family with hypokalemic periodic paralysis was reexamined after 50 years. Two new cases were found in the third generation and 12 in the fourth generation. This family now includes 28 affected patients in four generations. The reexamination ascertained the presence of permanent muscle weakness (PMW) in all investigated affected sibs. This fact, and the fact that indications of the presence of PMW without paralytic attacks were found in only one subject, is strong evidence that both are manifestations of the same more or less fully penetrant dominant gene. A linkage study in this family could not localize the gene on the human genome, but close linkage with 25 genetic marker systems could be excluded.
The clinical and neuropathological findings are reported of two sibs with adult type PMD. Clinical features deviating from the usual pattern included: no psychosis, no measurable dementia, no dwarfism, no microcephaly, no (marked) involuntary movements, but conspicuous generalised muscle atrophy and denervation, impairment of vital and gnostic sensation, thoracolumbar vertebral anomalies, and aplasia of os coccygis. Neuropathological findings were as usual, with additional unusual features: pinhead-size areas of acute myelin-abbau products, involvement of grey in addition to white matter, and upon ultrastructure, the new finding of intra-oligodendroglial fingerprint bodies, both in neuronal satellite and in white matter oligoglia, but not in astrocytes, ganglion cells, or pericytes. This excludes the origin of the stored material in the lysosomes as to derive exclusively from demyelination and would possibly imply PMD to be an oligodendroglial lysosomal storage disease.
After a review of the literature on the origin of epidermoid tumors, a case report is presented of an intraventricular localization of such a tumor. Two theories are discussed as an explanation for this rare site. This case report, in addition to some data from the literature, suggests that it is unacceptable to assume that epidermoids have a primary location within the lateral ventricle.
The case of a 40-year-old homosexual male with A.I.D.S. (Acquired Immune Deficiency Syndrome) and P.M.L. (Progressive Multifocal Leukoencephalopathy) is described. The importance of a brain biopsy for diagnostic procedures, especially in the case of a patient with A.I.D.S. is stressed. The diagnosis P.M.L. has been made by means of light- and electronic microscopical examination, and the presence of JCV-DNA in the brain tissue has been confirmed by dot hybridization. Various antiviral treatments did not show any effect on the course of the P.M.L.
The numbers of neurons were counted in the ventral and dorsal anterior and ventral and dorsal posterior part of the putamen of 11 Huntington's disease and nine control patients. The process of neuronal cell loss in Huntington's disease proved to be unevenly spread throughout the putamen; the ventral anterior part was relatively spared as compared with the other parts of the putamen. A significantly higher number of neurons was found in the ventral part of the putamen in the controls.
The treatment of a slowly growing invasive prolactinoma with bromocriptine for 8 months resulted in a substantial decrease in plasma prolactin levels despite rapid suprasellar tumor expansion. On exploration, this uncommon observation could be attributed to hematogenous metastasis from an occult gastric adenocarcinoma to the pituitary tumor. Apart from infiltration of neighboring parts of the hypothalamus, autopsy revealed no other hematogenous metastases. This extraordinary type of neoplasm-to-neoplasm metastasis was not shown by computed tomography. This possibility should be considered whenever progressive growth of a pituitary mass is accompanied by a decrease in hormonal overproduction.
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Ultrastructural study of the nucleus accumbens, caudate nucleus and frontal cortex of patients with Huntington's disease showed that neuronal nuclear membrane indentations were significantly more frequently present in the nucleus accumbens and caudate nucleus, than in a control group. The astrocyte/neuron ratios in the same areas were also found to be higher in the Huntington patients. In a search to find out whether this finding is unique in Huntington's disease the brains of patients with several other diseases of the central nervous system, characterized by involuntary movements and/or dementia (Pick's disease, Down's syndrome, Alzheimer's disease, Parkinson's disease, Creutzfeldt-Jakob disease, tardive dyskinesia and multi-infarct dementia) were investigated in the same way. Although some findings were similar in this group, the Huntingtonian brains could be almost completely separated, with the exception of one patient with Creutzfeldt-Jakob disease, by the use of a discriminant analysis, taking into account the percentage of neurons with nuclear membrane indentation and astrocyte/neuron ratio of three areas of grey matter.
A persistent blink reflex to light (BRL) was observed in a patient who became comatose after a cardiac arrest. Postmortem examination revealed severe hypoxic ganglion cell necrosis of the cerebral and cerebellar cortex, the basal ganglia, the hypothalamus, nuclei in the brain stem, and the superior colliculi. The pretectum was unaffected. These findings suggest that the afferent fibers of the BRL enter the brain stem not in the superior colliculus, but in the pretectum.
In a retrospective study of 166 patients, all admitted to the University Hospital, Leiden, The Netherlands, between January 1, 1970 and December 31, 1979, we estimated the relative risk of intracerebral hemorrhage from oral anticoagulant therapy. The risk was more than ten times higher for patients over 50 years of age than for similarly aged untreated individuals in the general population. Within this age group the risk was influenced by neither age nor sex. Hypertension, present in 80% of the patients, was the most important predisposing condition; the risk of bleeding rose with increasing intensity of anticoagulation. There was no substantial difference in clinical condition at onset, rate of progression, mortality, or degree of recovery between patients with anticoagulant-associated hemorrhage and those with spontaneous intracranial hemorrhage.
Disulfiram in generally accepted maintenance doses in alcoholism may produce a rather severe polyneuropathy. In addition to the 39 literature cases, 5 personal patients were examined. Detailed clinical findings are given and the frequent permanent sequelae are emphasized. In 2 patients sural nerve biopsies were studied (including electromicroscopical examination) revealing a primary axonal lesion. In the treatment of alcohol addiction one should be aware of this complication.
Two Dutch siblings, diagnosed as suffering from Fukuyama type congenital muscular dystrophy (FCMD) on the basis of clinical, computerized tomography (CT), and muscle and brain biopsy findings, are reported. Hypoplasia of the chorioidea was observed for the first time in FCMD. Autopsy of the first case revealed the major pathological changes of FCMD, i.e. micropolygyria, loss of cytoarchitecture, hypoplasia of the pyramidal tract, leptomeningeal thickening. Heterotopias of nervous tissue in the spinal arachnoidal spaces were found. This is the first case in which brain tissue has been investigated on two separate occasions. In the biopsy specimen--at the age of 14 months--myelination was poor and astrogliosis marked. At autopsy--4 years later--myelination proved to be only slightly less than normal. However, white matter hypodensities on the successive CT's did not change. There is no ready explanation for this discrepancy. Typical FCMD is compared to FCMD-like cases from outside Japan. There are arguments in favor of the concept of a continuum of diseases--with the same (unknown) etiology--representing both typical FCMD and other types of congenital muscular dystrophy with CNS lesions.