title: [Positive therapeutic effect of diacarb in the syndrome of progressive muscle spasms, alopecia and diarrhea (Satoyoshi syndrome)].
abstract: A 13-year-old girl with Satoyoshi's syndrome is described. The disease manifested itself with generalized cramps, myoclonus, alopecia, diarrhea, growth retardation, muscular hypertrophies, bone malformations, and uterine and gonadal aplasia in the presence of normally developed breasts. Acetazolamide therapy led to a considerable alleviation of cramps and myoclonuses. The child's father displayed gynecomasty, muscular hypertrophy, patent palate, early alopecia and intensified lumbar lordosis; as a child she had had marked cramps in the leg muscles. The examination of the karyotype in the proband and father revealed heteromorphism with regard to the central region of the 22nd chromosome in both cases. Differential staining of the chromosomes failed to show the deletion of any fragment of this chromosome which made it possible to consider this karyotype peculiarity as a variant of the norm.
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000293:Adolescent; D000505:Alopecia / Q000188:drug therapy* / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003967:Diarrhea / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D009128:Muscle Spasticity / Q000188:drug therapy* / Q000235:genetics; D013577:Syndrome
chemical_list: D000086:Acetazolamide
vernacular_title: Polozhitel'nyu terapevticheskiĭ éffekt diakarba pri sindrome progressiruiushchikh myshechnykh spazmov, alopetsii i diarei (sindrom Satoyoshi).