Progressive limb and trunk stiffness without rigidity in a patient with acute lymphocytic leukaemia

Introduction: Progressively restricted mobility of the trunk and limbs in early adulthood is well recognized in the clinical setting of a group of myopathies comprising the Emery-Dreifuss and Hauptmann-Thannhauser muscle dystrophies, or the rigid spine syndrome. It may also occur in young adults in a few uncommon neurological diseases such as paraneoplastic myelitis, spinal arteriovenous malformations, paraneoplastic encephalomyelitis, the stiff man syndrome, Westphal variant of Huntington disease, or Hallervorden-Spatz disease.

Case report: A 22 year old shop assistant presented with progressive stiffness and wooden tautness of the limb and trunk muscles since two years. Muscle tone appeared normal. Passive movements of all limbs including the fingers and toes were severely limited due to contractures. Two years before the onset of progressive stiffness he was diagnosed with Philadelphia-positive acute lymphocytic leukemia and underwent allogeneic stem cell transplantation.

Work-up comprising laboratory tests, electromyography, muscle MRI, and muscle and skin biopsy revealed dermatomyositis and generalized scleroderma as a graft versus host disease following stem cell transplantation. This case demonstrates the challenging interdisciplinary differential diagnosis of muscular stiffness in the young adult.