Rigid spine syndrome presenting with respiratory failure--report of one case

A case of rigid spine syndrome presenting with respiratory failure was reported. A seven-year-old girl had had dyspnea and orthopnea for one month. Symptoms had aggravated gradually and she was in a state of respiratory failure on arrival at our hospital. There was no evidence of active lung lesions and response to mechanical ventilation was good. Physical examination revealed an extremely thin girl with marked flexion limitation of neck and severe wasting of sternocleidomastoid and intercostal muscles. Serum creatine phosphokinase was moderately elevated (801 IU/L). Muscle biopsy specimen obtained from the right quadriceps femoris revealed increased perimyseal connective tissue and marked Type II fiber atrophy. Electromyography of left paraspinal muscles demonstrated small amplitude, short duration motor unit potentials. She received tracheostomy and a home-care ventilator use during sleep. Ventilatory insufficiency, though rare, should be anticipated in patients with rigid spine syndrome, and timely ventilatory support should be given.