Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.
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Biomedical subjects
Publications and source records attributed to I C Bailey.
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Over the nineteen years 1974 to 1992 twenty-four families have been identified in whom more than one member have had a subarachnoid haemorrhage, usually due to rupture of an intracranial aneurysm. These cases usually occurred at an age younger than average, and multiple aneurysms were commonly found on investigation. This series strongly suggests that a congenital arterial defect may predispose to early rupture of these aneurysms.
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Of eighty-three tumours of ependymal origin diagnosed in the twenty years 1969-1988 in Northern Ireland, fifteen were located within the spine. Two were in children, 13 in young adults with a mean age of 33 years. 70% presented with back pain and 60% had weakness of the lower limbs. Survival was found to correlate well with histological grading (WHO classification). The mean time of survival for tumours graded 1/2 was six years; there were three long-term survivors of 13, 17 and 18 years; 90% of the patients survived 2.5 years.
We report the case of a 58-year old man who bled into an undiagnosed acoustic neuroma while on long-term anticoagulation therapy which was commenced following aortic valve replacement. The patient presented with multiple cranial nerve-paralysis of sudden onset. The tumour was subtotally removed but died 5 days postoperatively from recurrent haemorrhage into the tumour bed.
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A retrospective study of 25 patients who presented with posterior fossa haemangioblastomas to the Northern Ireland Regional Neurosurgical Centre over the past 25 years has been carried out. The epidemiological and clinical features and the results after operative treatment are presented and compared with other series. Posterior fossa haemangioblastomas were more common in female than in male patients and solid tumours accounted for 40% of all cases. While only two patients had associated polycythaemia, five patients (20%) were found to have persistent leucocytosis pre-operatively, while 24% had von Hippel-Lindau complex including two patients who were operated upon for an associated spinal haemangioblastoma. Of particular interest was a patient who had neurofibromatosis. There was no perioperative deaths. Patients with solid tumours fared badly in the long term compared with those who had a cystic type.
Cerebral abscess secondary to a pulmonary arteriovenous malformation is rare, but a definite entity. A case is reported of a woman treated for a cerebral abscess on 2 separate occasions, where a right lower lobectomy and removal of a pulmonary arteriovenous fistula has resulted in cure.
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A malignant neurilemmoma of the sciatic nerve is described. The requisites for making this diagnosis are discussed. It is pointed out that such tumours are commonly misdiagnosed as lumbar intervertebral discs and that local examination of the leg along the course of the sciatic nerve should be carried out on every patient complaining of sciatica.
A case of Kaposi's sarcoma involving the brain is described, this being the first of its kind in Uganda. The patient was a 40-year-old woman who presented with a 2-year history of skin tumors on the left ankle that proved resistant to chemotherapy. She therefore underwent an above-knee amputation. Six months after amputation, she developed signs of cerebral involvement, and 6 weeks later she died. Necropsy showed large tumor deposits in bone and lungs as well as in the brain. Histologically the cutaneous tumors consisted of the monomorphic variety, whereas the cerebral and other deposits were anaplastic. In the three cases of cerebral Kaposi's sarcoma hitherto reported from other countries, only minute foci of tumor were found in the brain.
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