title: [A case of Ullrich disease with distinct pathological change of muscular dystrophy].
abstract: A case of Ullrich disease was presented. The patient was a 3-year-old girl with torticollis, generalized muscle weakness and acroatonia since birth. High-arched palate, protruded calcaneus, and mild contracture of proximal joints were also recognized. Intellectual development was normal. Serum level of CPK was slightly increased. In histological and histochemical examinations of quadriceps femoris muscle, proliferated connective tissue, marked variation in the muscle fiber diameter, and a lot of degenerated and regenerated fibers were recognized. Minimal injury easily causes subcutaneous hemorrhage, but no abnormality was found in the structure of collagen.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine.
authors.forename: A
authors.initials: A
authors.lastname: Goto
authors.forename: A
authors.initials: A
authors.lastname: Ishida
authors.forename: Y
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: G
authors.initials: G
authors.lastname: Takada
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital; D012729:Sex Chromosome Aberrations / Q000150:complications*