Early neurosurgical intervention in spondyloepiphyseal dysplasias

Abstract

Goals: The aim of this study is to evaluate the benefits of early intervention in two major spondyloepiphyseal dysplasias of Saudi Arabia, namely, multiple sulfatase deficiency (MSD, Austin's disease) and Morquio's disease. The MSD is encountered frequently in the Kingdom and poses significant health risk to the child because of cord compression. The clinics of this hospital have several Austin's patients.

Results: This study indicates that early intervention before serious irreversible damage to the cervical cord occurs improves the neurological course of the patient; no patient had a worse outcome. On the other hand, neurosurgical intervention after the neurological symptoms of cord compression occurs was not as rewarding.

Conclusion: Morquio's disease is more common outside the Kingdom. The results in this study also confirm that early intervention in this disease is beneficial. Other surgeons make a similar recommendation for Morquio's disease. However, their experience with Austin's disease is not reported due to the rarity of this disease elsewhere.