A Broomfield1, K Zuberi2, J Mercer3, G Moss3, N Finnegan3, P Hensman4, R Walker5, S Bukhari6, N B Wright7, F Stewart8, S A Jones3, R Ramirez6. 1. Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, M13 9WL, UK. alexander.broomfield@cmft.nhs.uk. 2. Faculty of Biology, Medicine and Health, The University of Manchester, Oxford Rd, Manchester, M13 9PL, UK. 3. Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, M13 9WL, UK. 4. Department of Physiotherapy, Royal Manchester Children's Hospital, Central Manchester Foundation Trust, Manchester, M13 9WL, UK. 5. Department of Paediatric Anaesthetics, Royal Manchester Children's Hospital, Central Manchester Foundation Trust, Manchester, M13 9WL, UK. 6. Department of Paediatric Neurosurgery, Royal Manchester Children's Hospital, Central Manchester Foundation Trust, Manchester, M13 9WL, UK. 7. Department of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester Foundation Trust, Manchester, M13 9WL, UK. 8. N.I Regional Genetics Service, Level A, Belfast City Hospital, Lisburn Rd, Belfast, BT9 7AB, UK.
Abstract
PURPOSE: This study examines the long-term outcomes of paediatric Morquio (MPS IVA) patients undergoing cervical spine surgery and evaluates the factors that impacting this. METHODS: A retrospective review was performed on all MPS IVA patients undergoing cervical spine surgery, since the introduction of standardised neuroradiological screening. The impact of preoperative neurological status, growth, genotype and radiological status on outcome is assessed, whilst long-term surgical, radiological and neurological outcomes are documented. RESULTS: Twenty-six of the eighty-two MPS IVA patients (31%) reviewed underwent cervical spine surgery at a median age of 6.1 years (range, 1.45 to 15.24). Preoperatively, cord signal change was seen in 11 patients with 5 being myelopathic; however, 6 clinically manifesting patients had no overt cord signal change. Postoperatively, none of the 14 preoperatively clinically asymptomatic patients followed long term progressed neurologically during a median follow-up of 77.5 months (range = 18-161). Of the ten preoperatively clinically symptomatic patients who were followed up for the same duration, seven continued to deteriorate, two initially improved and one remained stable. Radiological follow-up performed for a median duration of 7 years (range = 0.5-16) has shown a degree of stenosis at the level immediately caudal to the termination of the graft in 76% of patients, though only one has become clinically symptomatic and required revision. CONCLUSIONS: Once clinically elicitable neurological signs become evident in patients with MPS IVA, they tend to progress despite surgical intervention. Referring clinicians should also not be falsely reassured by the lack of T2 spinal cord signal change but should consider surgical intervention in the face of new clinical symptomology or radiological signs of progressive canal stenosis or instability.
PURPOSE: This study examines the long-term outcomes of paediatric Morquio (MPS IVA) patients undergoing cervical spine surgery and evaluates the factors that impacting this. METHODS: A retrospective review was performed on all MPS IVApatients undergoing cervical spine surgery, since the introduction of standardised neuroradiological screening. The impact of preoperative neurological status, growth, genotype and radiological status on outcome is assessed, whilst long-term surgical, radiological and neurological outcomes are documented. RESULTS: Twenty-six of the eighty-two MPS IVApatients (31%) reviewed underwent cervical spine surgery at a median age of 6.1 years (range, 1.45 to 15.24). Preoperatively, cord signal change was seen in 11 patients with 5 being myelopathic; however, 6 clinically manifesting patients had no overt cord signal change. Postoperatively, none of the 14 preoperatively clinically asymptomatic patients followed long term progressed neurologically during a median follow-up of 77.5 months (range = 18-161). Of the ten preoperatively clinically symptomatic patients who were followed up for the same duration, seven continued to deteriorate, two initially improved and one remained stable. Radiological follow-up performed for a median duration of 7 years (range = 0.5-16) has shown a degree of stenosis at the level immediately caudal to the termination of the graft in 76% of patients, though only one has become clinically symptomatic and required revision. CONCLUSIONS: Once clinically elicitable neurological signs become evident in patients with MPS IVA, they tend to progress despite surgical intervention. Referring clinicians should also not be falsely reassured by the lack of T2 spinal cord signal change but should consider surgical intervention in the face of new clinical symptomology or radiological signs of progressive canal stenosis or instability.
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