A 10-year-old boy is described with a syndrome of adrenal insufficiency due to selective ACTH insensitivity associated with autonomic nervous system disorders. In addition to insufficient production of glucocorticoids and adrenal androgens, achalasia, defective lacrimation, anisocoria and hyperkeratosis of palms and soles we also found defective sweating, permanent cutis anserina and sensory polyneuropathy, which have not been reported previously in this rare syndrome.
SUMMARY A disease consisting of persistent muscle cramps involving distal muscle groups that occurred in 12 members of the same family is described. The cramps appeared on exertion and in full relaxation or during sleep. In the third generation they appeared in the second decade; in the fourth and fifth generations in childhood with higher frequency and intensity of cramps. The disease is not sex linked and seems to be dominantly inherited. Electromyography showed no myotonic response on insertion. Motor unit potentials were normal. Continual waxing and waning electrical discharges corresponding to clinically visible contractions of parts of the muscles were present. Repetitive nerve stimulation caused no change in the amplitude of evoked muscle potentials. On spinal anaesthesia or nerve block the muscle contractions continued but became painless. The movements were only stopped with local infiltration of anaesthetic into the muscle. There were no cramps on ischaemic work. Drug studies revealed no benefit on carbamazepine, slight relief with meprobamate, and complete disappearance with potassium chloride. The remission outlasted the treatment for three months and then cramps of milder degree reappeared. Repeated potassium chloride treatment was not effective. The cramps increased on hydrochlorothiazide, and 12 hours after spinal anaesthesia. In the authors' opinion the disease should be considered as not belonging to any known nosological entity.We have observed a disease appearing in many cated that the disease is of a type previously unsiblings of a family and in all of them with the known.
Background/Objective: The most prominent clinical features of progressive encephalomyelitis with rigidity (PER) are painful spasms and rigidity accompanied by clinical signs of brainstem and spinal cord involvement. In initial reports, PER had fatal outcome. Later, clinical improvement related to corticosteroid therapy has been described in some cases. The objective of this study was to signify a reputed clinical significance of corticosteroid therapy in PER. Methods: Case report. Results: A 50-year-old man developed progressive syndrome of tonic extensor spasms. Magnetic resonance imaging (MRI) showed areas of signal changes in cervical spinal cord and lower brainstem, whereas cerebrospinal fluid analysis indicated subacute encephalomyelitis. His condition dramatically improved on oral corticosteroid therapy. Clinical improvement was accompanied by normalization of MRI findings. Conclusion: For this patient with PER, corticosteroid therapy was a dramatically effective and life-saving treatment, although initiated rather late in the course of the disease.
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