A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.

We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle. Sequencing of all the mitochondrial transfer RNA (tRNA) genes identified a single potentially pathogenic mutation--a T to C transition at position 4274 in the tRNA(Ile) gene. This mutation was not present in skeletal muscle from 79 controls, and the level of the mutation in COX-negative fibers was significantly greater than the level in COX-positive fibers.

Deficits in delayed memory following cerebral malaria: a case study.

Cerebral malaria is a common disease, but there have not been any reports or investigations of long-term neurological or neuropsychological outcome. We present a case in which severe deficits in delayed memory and naming ability are observed 10 years after the patient contracted cerebral malaria. Neuropsychological testing and medical imaging are both consistent with temporal lobe/hippocampal dysfunction, which corroborates earlier animal research that cerebral malaria is particularly likely to lead to interrupted blood circulation in this area.

Acute oropharyngeal palsy is associated with antibodies to GQ1b and GT1a gangliosides.

Three patients with acute oropharyngeal palsy had high titre anti-GQ1b and anti-GT1a IgG antibodies. No patients had ophthalmoplegia or ptosis. In all patients limb ataxia or areflexia were present without notable limb weakness. These patients describe an oropharyngeal variant of Guillain-Barré syndrome in terms of anti-GQ1b antibody reactivity and show that high titre anti-GQ1b antibodies, serologically indistinguishable from those found in Miller Fisher syndrome, can occur in a clinical setting without ophthalmoplegia. The anti-GQ1b and anti-GT1a antibody assays may be helpful tests when considering the differential diagnosis of acute oropharyngeal palsy.

The inflammatory process in polymyositis: monoclonal antibody analysis of muscle and peripheral blood immunoregulatory lymphocytes.

An analysis was made of the lymphocyte subpopulations in the muscle lesions and the peripheral blood of 25 patients with inflammatory myopathy, in the acute or chronic phase of the disease. Percentages of activated T lymphocytes (65% +/- 3.4), both helper and suppressor/cytotoxic, macrophages (25% +/- 3.2) and B cells (11% +/- 0.9) in the tissues were similar at all stages of the illness; T cells were, however, more common in acute polymyositis than in acute dermatomyositis, where B cells were significantly increased. A loss of circulating OKT8-positive lymphocytes in the peripheral blood was demonstrated, supporting other evidence of disturbed immunoregulation. It was concluded that the attack on muscle fibres is mediated by T cells, macrophages, and B cells, with the first two playing the major roles.

Spontaneous pneumocephalus following elective thoracotomy.

One month following a right upper lobectomy for bronchial carcinoma, a 50-year-old man developed headaches, confusion and a right hemiparesis. Radiographs revealed intraventricular air. This was thought to have originated from air being forced through a dural tear sustained at the time of operation. Both the intraventricular air and the accompanying symptoms and signs subsequently resolved.

Pseudohypoparathyroidism presenting as severe Parkinsonism.

A case of pseudohypoparathyroidism in a middle-aged female presenting with severe Parkinsonism is reported. Correction of serum calcium led to marked clinical improvement suggesting that symptoms and signs were exacerbated by hypocalcaemia and tetanic spasm. Calcification of the basal ganglia was not detected on skull X-ray but was revealed by computerized axial tomography.

Electroencephalography--use and abuse.

The E.E.G. is a reliable, safe and readily available test, especially for screening purposes in hospitals where brain scan and EMI scan facilities are not available. Its reliability becomes less when unreasonable demands are made regarding the nature of pathology, precise localisation and extent of a lesion. A detailed clinical history is mandatory for the neurophysiologist to make a useful interpretation of the E.E.G.

Histocompatibility antigens associated with motor neurone disease.

The distribution of histocompatibility antigens was studied in 44 patients with motor neurone disease (MND). An unusually high incidence of HLA antigens A2 and A28 was found, compared to a control population.