Abstract
Satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle spasms, diarrhea frequently associated with malabsorption, alopecia, skeletal abnormalities and endocrine disorders with a poor long-term prognosis due to early crippling. We report a 14-year-old Chilean girl with clinical and radiological features of the syndrome who has been successfully treated with prednisone and carbamazepine. She remarkably recovered from muscle spasms, alopecia and diarrhea. At follow up, 24 months later, she persists asymptomatic with considerable improvement in her quality of life.
Highlights
Satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle spasms, diarrhea frequently associated with malabsorption, alopecia, skeletal abnormalities and endocrine disorders with a poor long-term prognosis due to early crippling
We report a 14-year-old Chilean girl with clinical and radiological features of the syndrome who has been successfully treated with prednisone and carbamazepine
El retraso en el diagnóstico y tratamiento apropiado puede conducir a una emaciación generalizada por compromiso nutricional secundario a la malabsorción y a dificultades en la alimentación secundarias a espasmos de los músculos masticatorios
Summary
Satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle spasms, diarrhea frequently associated with malabsorption, alopecia, skeletal abnormalities and endocrine disorders with a poor long-term prognosis due to early crippling. SÍNDROME DE SATOYOSHI - C Castiglioni et al Comunicamos el primer caso descrito en Chile de síndrome de Satoyoshi en una niña de 14 años de edad, con respuesta exitosa al tratamiento esteroidal y carbamazepina, con una revisión de la literatura pertinente.
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