Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of manifestations including joint contractures, short stature, dysostosis multiplex, coarse facial features, decreased pulmonary function, cardiac abnormalities, corneal clouding and shortened life span. Recently, clinicians from institutions in the Asia-Pacific region met to discuss the occurrence and implications of delayed diagnosis and misdiagnosis of MPS VI in the patients they have managed. Eighteen patients (44% female) were diagnosed. The most common sign presented by the patients was bone deformities in 11 patients (65%). Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities for four patients (31%), alternative diagnoses for two patients (15%), and misleading symptoms experienced by two patients (15%). Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Several cases highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialties and provide insights into how these patients initially present, which may help to elucidate strategies to improve the diagnosis of MPS VI.

Overcoming the barriers to diagnosis of Morquio A syndrome.

BACKGROUND: Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications. METHODS: Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio A syndrome. RESULTS: Eighteen patients (77% female) had a mean (median; min, max) age of 77.1 (42.0; 0.0, 540.0) months at symptom onset, 78.9 (42.0; 4.5, 540.0) months at presentation and 113.8 (60.0; 7.0, 540.0) months at diagnosis. Orthopedic surgeons and pediatricians were most frequently consulted pre-diagnosis while clinical geneticists/metabolic specialists most frequently made the diagnosis. Delayed diagnoses were due to atypical symptoms for 5 patients (28%), while 4 patients (22%) experienced each of subtle symptoms, symptoms commonly associated with other diseases, or false-negative urine glycosaminoglycan analysis. Two patients (11%) each experienced overgrowth within the first year of life. Two patients with Morquio A syndrome (11%) were diagnosed with craniosynostosis and 1 (6%) for each of Legg-Calvé-Perthes disease, Leri-Weill syndrome, and pseudoachondroplasia. Early radiographic features of Morquio A syndrome led to more efficient diagnosis. CONCLUSIONS: Increased awareness of clinical symptomology overlapping with Morquio A syndrome is essential. Clinicians encountering patients with certain skeletal dysplasia should consider Morquio A syndrome in their differential diagnosis. Atypical or subtle symptoms should not eliminate Morquio A syndrome from the differential diagnosis, especially for patients who may have non-classical phenotype of Morquio A syndrome.

Improvement of ambulatory function with multilevel soft tissue surgery in children with spastic diplegic cerebral palsy.

UNLABELLED: Single Event Multilevel soft tissue surgery in spastic diplegic children also was effective for improving ambulatory function obviously as multilevel bone and soft tissue surgery. Just muscle and tendon surgery seem to be enough for better lever arm dysfunction of the lower extremity. It has safe, simple and rapid recovery. OBJECTIVE: Gross Motor Functional Classification System (GMFCS) improvement after single event multilevel soft tissue surgery had been observed in these study groups of patients. MATERIAL AND METHOD: Retrospective review in 93 spastic diplegic children who were more than 3 years old, had ability to understand communication, at least leaned sitting and one-hand gross function ability had been operated on by single event multilevel soft tissue surgery. GMFCS was assessed at the time of pre-operation and 6-12 months after operation. Analyzing GMFCS change was performed by statistics. RESULTS: Average 7 site surgery per one patient, 84% GMFCS level improvement and 16% GMFCS level non-improvement were reported. Nine cases (9.7%) were improved 2 level of GMFCS and 74% improved 1 level. GMFCS level compared between pre- and post surgery had changed by the significant statistic (p < 0.001). The average GMFCS level improvement for all groups was 0.93 level. The average age in the improved group (75 months old) was less than the non-improved group (92 month old), was a trend difference in statistic (p = 0.032). CONCLUSION: Single Event Multilevel Soft tissue surgery was effective in improving the GMFCS level average 1 level. It changed ambulatory function of spastic diplegic CP children obviously, immediately and safely. Younger age might get more benefit than older children.