G. Th. A. M. Bots

Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage

Eleven patients belonging to two generations of a Dutch family with cerebral and cerebellar haemorrhage, haemorrhagic infarction and infarction are described. Their ages varied from 44 to 58 years. The principal clinical characteristics was recurring cerebral haemorrhages, sometimes preceded by a history of migrainous headaches or mental changes. In 4 of the 6 autopsied cases, old and new multiple cerebral haemorrhagic infarcts and infarcts were found, in one case a single cerebral haemorrhage and in another a cerebellar haemorrhage. In 5 cases this resulted in secondary subarachnoid haemorrhage. In one case the infarcts were only slightly haemorrhagic and did not result in subarachnoid haemorrhage. This patient presented as dementia. Microscopically, in these 6 cases and in one biopsy specimen hyaline thickening of the walls of cortical arterioles was found. The arteries of the arachnoid showed marked tortuosity, concentric proliferation, and focal hyalinization of the walls. Amyloid was found in the hyalinized vessels in 5 cases, but not outside the central nervous system. We believe that we are dealing with an inherited disorder with an autosomal dominated mode of inheritance, in which microangiopathy leads to cerebral haemorrhage and (haemorrhagic) infarction. It seems likely that amyloidosis underlies the angiopathy, and that this family suffers from a condition similar to the one described by Gudmundsson in 1972.

Familial Creutzfeldt-Jakob disease

A Finnish family is described with 9 cases of presenile dementia in 3 generations. The mean age at onset was 52 years (range 46--62 years). Progressive dementia, upper motor neuron signs, muscular rigidity, and twitching, irregular tremors were consistent features in the 6 clinically investigated patients and were associated with spongiform change in the cerebral cortex of one autopsy and two brain biopsy cases. The EEG showed progressive slowing without the occurrence of repetitive high-voltage complexes at any stage of the disease. The average duration of the disease (21 months, range 11--36 months) was longer than in the sporadic form of CJD. The occurrence of CJD within this family follows a pattern consistent with an autosomal dominant mode of inheritance, suggesting the possibility of vertical transmission of the presumptive causative agent for example by genomic integration or transplacental passage. However, the occurrence of the disease only through the paternal line of relationships and the presence of a discordant twin pair argue strongly against transplacental passage or transmission via mothers milk. Simple contact infection also seems unlikely, as conjugal cases were not found among the 7 married patients. The interval between the death of the last affected member in generation IV and the time of onset of the disease in the first affected member of generation V was 10 years. Thus setting a minimum incubation period if case-to-case transmission were occurring. To evaluate the role of a genetically determined susceptibility to infection studies on the HLA antigens and other genetic markers are in progress.

Neuropathological changes of the nucleus accumbens in Huntington's chorea.

SummaryUltrastructural analysis of the ncl. accumbens, frontal cortex, and caudate nucleus of ten patients with Huntingtons chorea revealed nuclear membrane indentation of remaining neuronal elements in >25%, <5%, and <2%, respectively. This phenomenon was not observed in ten non-choreic control brains obtained from patients with Alzheimers disease, Parkinsons disease, and non-demented elderly people. The pathogenetic mechanisms leading to this phenomenon are discussed.

Viral meningoencephalitis and head injury

Among 162 children referred with head injury (in a 3‐year period) a viral meningoencephalitis was proven to be present in seven cases.

Nuclear membrane indentations in Huntington's chorea

Electron-microscopical examination of the nucleus accumbens, caudate nucleus and frontal cortex was performed in 21 patients with Huntingtons disease (HD) and 21 age-matched controls. In HD, nuclear membrane indentations (NMI) were found in 25%, 29% and 20%, respectively, of the neurons of these areas. In the control group these figures were 4%, 4% and 38%, respectively. Possible pathogenetic mechanisms of the NMI are discussed.

Epidermoid tumor in the lateral ventricle

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.

Thrombosis of the Galenic system veins in the adult

SummaryThree cases of thrombosis of the Galenic system veins in adults are presented. Thrombosis of other veins or the venous sinuses was not found. All three patients were women, only one of whom used oral contraception (Lyndiol®). In another of these cases treatment with amitriptylinepamoate (Tryptizol®) seemed to have initiated the symptoms. In the third case, a patient with polycythaemia, the thrombosis developed after a cranial fracture. No other cases of this kind are reported in the literature of this century.ZusammenfassungDrei Fälle von Thrombose der Vena magna Galeni werden veröffentlicht. Keine Thrombose anderer Venen oder Sinus durales war vorhanden. Alle drei Fälle waren Frauen. Bei einer Patientin berichtete die Anamnese den Gebrauch eines oralen Kontraceptivum (Lyndiol®). Bei einer anderen traten die Symptome nach Gebrauch von Amitriptylinepamoat (Tryptizol®) auf. Die dritte Patientin litt an Polycytämie, bei der die Thrombose nach Schädelfraktur auftrat. In der Literatur des letzten Jahrhunderts sind keine anderen Fälle verzeichnet, vermutlich weil die klinische Diagnose sehr schweirig ist.

Angioendotheliomatosis of the central nervous system

SummaryA case of angioendotheliomatosis is described in which the neoplastic proliferation of the vascular endothelium was restricted to the central nervous system. Although the process resembled a malignant tumour, neoplastic growth did not occur outside the blood vessels. The process was accompanied by a chronic inflammatory reaction in and around the blood vessels.

Virus-like particles in brain tissue from two patients with Creutzfeldt-Jakob disease

SummaryParticles resembling virions observed in brain biopsies of two patients with Creutzfeldt-Jakob disease were located almost exclusively in the cytoplasm of the astrocytes which were swollen and showed accumulations of glia fibres, sometimes the cell bodies of the astrocytes were destroyed.ZusammenfassungVirusähnliche Partikel wurden in Gehirnbiopsien von zwei Patienten mit Creutzfeldt-Jakobscher Krankheit beobachtet. Diese Partikel fanden sich fast ausschließlich im Cytoplasma von Astrocyten, die eine Konzentration von Gliafilamenten, Schwellung oder sogar Desintegration zeigten.

Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks

Case histories and muscle biopsy findings are reported of two members of a family suffering from hypokalaemic periodic paralysis associated with permanent muscular weakness. the first patient aged 9 years, as well as her affected sibs, gives a history of a slight and slowly progressing impairment from early childhood on. At the age of 8 she exhibited slightly reduced muscle strength occasionally in the morning, with a frank paralytic attack only on two occasions. Physical examination revealed slight proximal muscle weakness, predominantly in the legs. Light microscopic examination as well as ultrastructural analysis of the biopsy revealed large vacuoles in many muscle fibres, mostly containing glycogen. the second patient, a man aged 18 years, never experienced a paralytic attack nor any fluctuation in muscle strength. Though his muscular strength was sligthly below expectation, no frank paresis could be detected on examination. the EMG revealed no abnormalities except for slight myopathic changes bilaterally in the adductor magnus. Light microscopic examination of the muscle biopsy showed no pathological changes. Accumulations of glycogen and secondary atrophy and disappearance of muscle fibrils were seen with the electronmicroscope.