Satoyoshi and Yamada first described a multisystem disorder in Japanese children and adolescents, which subsequently has been described in adults and in people from around the world.
Key clinical features:
(1) recurrent and painful muscle spasms (associated with discharge from the anterior horn cells in the spinal cord)
(2) alopecia universalis
(3) inflammatory bowel disease with malabsorption and diarrhea
Additional findings:
(1) joint deformities
(2) growth retardation and epiphyseal separation if onset is before the epiphyses have closed
(3) disordered bone density
(4) amenorrhea in females, with hypoplastic uterus and ovaries
(5) autoimmune disorders
(6) premature death
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