Biomedical subjects
Publications and source records attributed to A P Galdi.
A 36-year-old man presented with episodic exertional dyspnea, fluctuating exercise intolerance, and myoglobinuria. He never experienced cramps or myalgias. Subsequent evaluation revealed carnitine palmitoyl transferase deficiency. The unusual features of this case suggested that carnitine palmitoyl transferase deficiency may have a more diverse clinical picture than previously described.
Tonic pupils developed in two patients with malignancies outside the nervous system. Symptoms and signs of more generalized somatic and autonomic nervous system involvement were also present. Although the exact morphologic basis for autonomic dysfunction in patients with paraneoplastic neurologic deterioration is uncertain, recent studies suggest that in some cases an autoimmune mechanism is responsible and may be directed against autonomic ganglion cells.
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Benign recurrent aseptic meningitis (Mollaret's meningitis) is rare. Only five cases have been reported in this country. This article reports another case and briefly reviews the characteristic manifestations of this disorder.
Myasthenia gravis is a disorder that most commonly affects young adults but occasionally appears in the elderly. Muscle weakness and easy fatigability, particularly of the ocular muscles, are characteristic. Diagnosis is confirmed by electromyography and the edrophonium (Tensilon) test. The pathology results from inability of acetylcholine to gain access to receptor sites at the neuromuscular junction, possibly because of a blocking antibody produced by the thymus. Initial treatment (in the absence of a thymoma) consists of administration of an anticholinesterase drug. If that is ineffective, thymectomy and/or corticosteroids may be useful.