Rigid spine syndrome: A report of 15 children

Objective: To report rigid spine syndrome (RSS) in children.

Methods: Children diagnosed with RSS from 1996 were  analyzed. The diagnosis was based on the patient’s history, clinical features, biochemical investigations, electrophysiological findings, neuro-imaging and muscle biopsy. Atrophy of the paraspinal muscles  was the diagnostic feature. The children were diagnosed with rigid spinal muscular dystrophy (RSMD) if the disease had onset in paraspinal muscles and RSS if the onset was outside paraspinal muscles.

Introduction: There is stiffness of spine in RSS.  Spine stiffness is seen commonly in late stages of various myopathies. Majority of these myopathies are congenital myopathies or dystrophies. In RSMD, the stiffness of neck and spine is seen at the beginning of the illness. This type of RSS belongs to the congenital muscular dystrophies not related to the dystrophin/glycoprein/extracellular matrix.  Selenoprotein malfunction has been recognized as the main defect in RSS.

Results: 15 children (12 males) were seen.12 children had RSMD and 3 RSS. Age of onset ranged between birth to 18 months. Serum creatine kinase was normal or borderline raised in RSMD but raised in RSS.None of the children had cardiac involvement.Muscle biopsy was performed in 5 cases.Seleinoprotein deletion was positive in one.

Discussion: children with RSMD had typical features of severe spine rigidity at onset, with the rest of the neurological examination being normal. Respiratory muscle involvement is crucial for the life span and course of the illness.

Conclusion: Cases of RSMD should be differentiated from the RSS.