Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period: a case report

Abstract

Study design: A long-term follow-up study of a patient who had scoliosis associated with cri-du-chat syndrome was performed.

Objective: To describe for the first time the characteristics and natural course of progressive scoliosis in a patient with cri-du-chat syndrome.

Summary of background data: Scoliosis is a common condition in patients with cri-du-chat syndrome. However, there are no reports on the clinical characteristics and course of this spinal deformity.

Methods: The current condition and radiographs of a 33-year-old man with cri-du-chat syndrome were assessed. The records and serial radiographs of his spine were reviewed retrospectively over a 29-year period, between ages 4 and 33 years.

Results: The scoliosis had started before the initial radiographic examination and progressed rapidly during the growth period. After this stage, slow but continuous progression was observed over the next 10 years. The final curvature was quite substantial, measuring 119 degrees.

Conclusions: To determine the most appropriate treatment for the scoliosis associated with cri-du-chat syndrome, the characteristics and natural course of the scoliosis should be clarified. Although this first report on this type of scoliosis is informative, more cases and further studies are needed.