[A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid]

Generalized komuragaeri disease (Satoyoshi disease) is a rare disorder of unknown etiology, characterized by painful muscle spasms, alopecia, diarrhea and various endocrine disorders. We administered glucocorticoid to a girl with this disease, resulting in a marked improvement of all clinical features. The patient was a 15-year-old girl. Since the age of 13 years, she had had intermittent painful muscle spasms, which affected any skeletal muscles 5 to 15 times a day at exercise and at rest and lasted for a few minutes. At the age of 14 years, she had idiopathic thrombocytopenic purpura which responded to the glucocorticoid treatment. Amenorrhea and orthostatic hypotension developed at the age of 14 years. Then the loss of body and head hair was noticed and progressed slowly. She had not experienced severe diarrhea. On admission, her physical and neurological examinations showed no abnormalities except for the thin hair and frequent muscle spasms. Laboratory examinations showed elevated levels of serum creatine kinase and aldolase, positive antinuclear antibody of speckled pattern and a mild disturbance in carbohydrate absorption. Endocrinological tests suggested the dysfunction of hypothalamus as a cause of amenorrhea. Electromyogram showed large action potentials on spasms. She was treated with glucocorticoid, 2 mg/kg on alternate days. The muscle spasms decreased gradually in frequency and duration in 1 month of treatment, and disappeared in 4 months. The growth of her hair was noticed and orthostatic hypotension disappeared in 4 months. Menstruation became regular in 7 months. The muscle spasms worsened when the dosage of glucocorticoid was reduced, and they improved on the increased dosage. She was free of symptoms at 6 months after the successful diminution of glucocorticoid. The etiology of this disease has not been revealed. The association of autoimmune disorders and the responsiveness of all clinical features to glucocorticoid suggest that an autoimmune process is involved in the pathogenesis of generalized komuragaeri disease.