Spinal instrumentation was effective for the control of deformity with a relatively higher rate of complications. However, with respect to high complication rate, the ideal solution for managing the congenital cases is still to prevent the progression of the curve with early intervention by using the optimal surgical approach for that particular patient.
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390 K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.
The authors studied 32 patients to delineate the reliability of well-defined but frequently extended indications to define the ideal patient who will benefit from convex growth arrest. Mean age at the time of convex growth arrest was 29 (range 6-72) months, and average follow-up was 40 (24-120) months. Mean Cobb angle was 55 degrees (31-105 degrees) before surgery and 50 degrees (13-107 degrees) at final follow-up. Thirteen patients (41%) had a true epiphysiodesis effect, while 15 (47%) had fusion and 4 (12%) had progression. The age at surgery, magnitude, length and location of the curve, presence of intraspinal anomaly, and presence of sagittal plane or rib deformity were investigated in terms of the outcome, but none of these parameters was found to have an effect on the outcome. In conclusion, convex growth arrest is a safe and effective method in the management of the young patients with congenital spinal deformities. It can be performed for the balanced and cosmetically acceptable deformities of patients younger than 5 years of age regardless of the type, length, magnitude, and location of the curve, the existence of associated rib fusion, or the presence of sagittal plane abnormality.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.