Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

Abstract

The abbreviated and extended CCJ scores are objective, transparent and reproducible tools for assessing the CCJ pathology and the need for surgery.

Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB

“…Patients with a classic (severe) form of MPS IVA have a unique systemic skeletal dysplasia including short-trunk dwarfism, kyphoscoliosis, coxa valga, odontoid hypoplasia, abnormal gait, joint mobility problems, restriction of chest wall movement, and a life span of 20-30 years if an appropriate orthopedic intervention is unavailable. Patients with an attenuated form have a milder skeletal involvement, and most have normal life span (Dũng et al 2013;Yasuda et al 2013;Tomatsu et al 2011Tomatsu et al , 2012aTomatsu et al , 2013aNorthover et al 1996;Montaño et al 2007Montaño et al , 2008Suzuki et al 2001;Hendriksz et al 2013;M€ ollmann et al 2013;Harmatz et al 2013). Patients with MPS IVB show a milder phenotype of skeletal dysplasia than patients with the severe form of MPS IVA.…”

Chondroitin 6-sulfate as a novel biomarker for mucopolysaccharidosis IVA and VII

“…Clinically, a classic (severe) form of MPS IVA is characterized by systemic skeletal dysplasia such as short trunk dwarfism, kyphoscoliosis, coxa valga, odontoid hypoplasia, abnormal gait, joint mobility problems, restriction of chest wall movement, and a life span of 20-30 years. Patients with an attenuated form can have a nearly normal life span, with mild involvement of the skeleton (Dũng et al 2013;Yasuda et al 2013;Tomatsu et al 2011Tomatsu et al , 2012aTomatsu et al , 2013aNorthover et al 1996;Montaño et al 2007Montaño et al , 2008Suzuki et al 2001;Hendriksz et al 2013;M€ ollmann et al 2013;Harmatz et al 2013). In general, patients with MPS IVB have a milder phenotype of skeletal dysplasia.…”

Avaliação neurológica e de neuroimagem em pacientes com mucopolissacaridoses

“…These findings reinforce the importance of a detailed MRI evaluation encompassing all spinal levels before therapeutic interventions. Surgical techniques such as posterior occipitocervical fusion, combined anterior transoral decompression with posterior fusion, and decompressive cervical laminectomy without posterior occipitocervical fixation/fusion have been described with variable success rates [Ashraf et al, 1991;Stevens et al, 1991;Möllmann et al, 2013]. Prospective long-term follow up studies comparing these techniques are not available yet, and the intervention decision is subjective and determined by the neurosurgeon.…”

“…Prospective long-term follow up studies comparing these techniques are not available yet, and the intervention decision is subjective and determined by the neurosurgeon. Recently an interesting study has proposed scoring systems for absolute and relative neurosurgical intervention indications at the craniocervical junction [Möllmann et al, 2013]. The scores developed by Möll-mann and colleagues are objective and reasonable enough to indicate surgical cervical decompression.…”

“…Recentemente um estudo propôs um sistema de pontos ("score"), através do qual o paciente é classificado como candidato relativo ou absoluto ao tratamento cirúrgico, de acordo com os sinais e sintomas clínicos, em associação aos achados de neuroimagem (Möllmann et al 2013). Trata-se de um sistema claro e objetivo, facilmente aplicável.…”