Distinctive Spine Deformities in Patients with Hurler (IH) and Hurler-Scheie (I-H/S) Syndrome

Abstract

Purpose: Progressive kyphoscoliosis is not of uncommon occurrence in patients with MPSs. Cranio-cervical junction in patients with MPSs are under the threat of three life threatening elements, namely GAGs accumulation, C1-2 instability, and progressive cervical vascular abnormalities. Material and Methods: Seven patients’ two girls and five boys with age range from 3 to 9 years presented with progressive kyphoscoliosis and atlanto-axial instability. Phenotype/genotype confirmed the diagnosis of Hurler syndrome and Hurler-Scheie syndrome. Though, spine deformities were to a certain extent similar in both types but with different age of onset. Results: Children with kyphoscoliosis of apical Cobb’s angle ranging between 60/65° were corrected up to 5° with normal sagittal spine balance. All showed an improvement in the neurological and functional status of Frankel motor scale (PreOp C / PostOp D) and Nurick scale (PreOp 2-3 / PostOp 2-3). The severity of myelopathy on the mJOA scale decreased (PreOp 12 / PostOp 10). Three children were excluded from surgical interventions because