A 4-year-old girl with the Marshall-Smith syndrome (MSS) is described. A muscle biopsy
was performed because of hypotonia and muscular weakness. Selective hypoplasia of
type IIa and lIb fibers was found. Additional not previously reported findings in
this girl were a partial growth hormone deficiency, a partial villous atrophy of the
small bowel and a pronounced dicarboxylic aciduria. The significance of these findings
in MSS is not clear and the results of similar investigations in other MSS patients
have to be awaited.
Marshall-Smith syndrome - Myopathy with selective type II fiber hypoplasia
