Biomedical subjects
Publications and source records attributed to B R Lecky.
A family is reported in which the father was affected by facioscapulohumeral muscular dystrophy FSHD. One son was affected by Duchenne muscular dystrophy (DMD). The second son died at the age of 3 yr of a severe primary muscle disease and it is suggested that this was the outcome of dual expression of the two conditions.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A 60-year-old woman presented with deteriorating vision. A computed tomography (CT) scan showed pituitary enlargement with chiasmal compression. Serum prolactin levels were normal but assessment of thyroid function showed a serum thyroxine level of 25 nmol/l (normal range 76-160 nmol/l) and a thyroid-stimulating hormone (TSH) level of 60 mU/l (normal range 0.5-5.0 mU/l). After 8 weeks of thyroxine replacement therapy (0.05 mg daily increasing to 0.1 mg daily after 3 weeks) the visual defects had resolved, serum TSH had fallen to 0.7 mU/l, and the CT scan showed pronounced reduction in the size of the pituitary gland. Measurement of TSH as well as prolactin is essential in all patients with pituitary enlargement, to avoid unnecessary pituitary surgery.
The clinical and electrophysiological findings in 22 patients with chronic trigeminal sensory neuropathy are described. The main clinical feature was slowly evolving unilateral or bilateral facial numbness sometimes associated with pain and paraesthesiae and commonly with disturbed taste. Nine patients had either systemic sclerosis or mixed connective tissue disease. Of the 13 other patients, 9 had either organ or nonorgan specific serum autoantibodies. Blink reflex latencies were recorded in 17 patients, the commonest abnormality being an 'afferent' defect with modest prolongation of latency. Trigeminal sensory evoked responses were recorded in 14 cases, 6 showing mild prolongation of latencies. It is suggested that the lesion in this type of trigeminal neuropathy is in the trigeminal ganglion or in the proximal part of the main trigeminal divisions. This conclusion is supported by limited pathological data.
Encephalopathy is described developing in a 42 year old man who was receiving gold treatment for rheumatoid arthritis.
The findings in two cases of congenital myasthenia investigated by intercostal muscle biopsy are presented. The first case, a 16-year-old boy, showed reduced miniature endplate potential amplitude and normal 125I-alpha-bungarotoxin binding to postsynaptic acetylcholine receptors. Muscle biopsy and endplate ultrastructure were normal. Tubocurarine affinity, ion channel properties, and passive membrane properties were normal. Limited data showed reduced effectiveness of applied acetylcholine in opening ion channels. The second case was an 18-year-old girl with consanguineous parents. Type 2 muscle fiber atrophy was seen in both limb and intercostal muscle. Intercostal endplates were elongated, although ultrastructure was normal. Negligible postsynaptic alpha-bungarotoxin binding suggested an abnormality of the acetylcholine receptor macromolecule.