Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases.
STUDY DESIGN
Descriptive retrospective cohort of 52 pediatric patients with mucopolysaccharidosis (MPS) and spinal cord disease and surgical outcomes in a reference hospital.


OBJECTIVES
To describe clinical manifestations and surgical management and outcomes of spinal lesions.


METHODS
All medical records of 52 patients with mucopolysaccharidosis (I, II, III, IV, and VI) diagnosed between 1992 and 2011 were identified and followed at a single spine center of a pediatric hospital. Demographic, clinical manifestations, spinal cord lesions, and surgical management were the focus of the descriptive report.


RESULTS
A total of 52 patients (32 males and 20 females), mean age at diagnosis of 8 ± 4 years (range 1-19), and with a mean follow-up of 11 ± 8 years were identified. Forty-three had cervical disease (the most frequent affection found was odontoid hypoplasia followed by atlantoaxial instability) and 14 patients had thoracolumbar kyphosis. Twenty-one patients presented neurologic compromise before surgery (quadriparesis as the most frequent manifestation), with the progression of neurologic impairment being the most common surgical indication. Surgery was performed in 38 patients (25 cervical and 13 thoracolumbar). Of the 21 patients with preoperative neurologic deficit, 6 patients showed neurologic improvement. The most common surgical complication found was proximal junctional kyphosis.


CONCLUSION
This is the largest series published of mucopolysaccharidosis pediatric patients with a surgically treated spinal condition. We recommend early spinal cord decompression in mucopolysaccharidosis spine pathology to prevent or potentially reverse neurologic impairment.


LEVEL OF EVIDENCE
Level IV.
['Remondino|Rodrigo G|RG|', 'Tello|Carlos A|CA|', 'Noel|Mariano|M|', 'Wilson|Alejandra Francheri|AF|', 'Galaretto|Eduardo|E|', 'Bersusky|Ernesto|E|', 'Piantoni|Lucas|L|']
D000293:Adolescent D000328:Adult D002648:Child D002675:Child, Preschool D015331:Cohort Studies D019299:Decompression, Surgical D005260:Female D005500:Follow-Up Studies D006801:Humans D007223:Infant D007738:Kyphosis D008297:Male D009083:Mucopolysaccharidoses D009422:Nervous System Diseases D011183:Postoperative Complications D011782:Quadriplegia D012189:Retrospective Studies D013116:Spinal Cord D013122:Spinal Diseases D013997:Time Factors D055815:Young Adult
Mucopolysaccharidosis Spinal cord diseases Lysosomal storage diseases