Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience
Journal Title: The Journal of Pediatric Research - Year 2018, Vol 5, Issue 1
Abstract
Aim: Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearing loss, mild hepatomegaly, corneal clouding, coarse facial features. Materials and Methods: We retrospectively analyzed clinical and laboratory and follow up findings of our 25 patients with ministry for primary industries independent verification agency. Results: Mean age of the patients was 14.9±7.05 (5.5-36 years). Mean age at diagnosis was 7.3±6.2 years (6 months-31 years). Female: male ratio was 13/12. All patients had skeletal manifestation and X-ray analysis demonstrated “dysostosis multiplex”. Twelve patients (48%) had cardiac valve disease. Twenty three (92%) patients had corneal clouding, 15 (60%) patients had hearing loss and 9 (36%) had hepatomegaly. Six (24%) patients were unable to walk. Mean follow up period is 7.4 years ±3.5 years (3 months-17 years). Four patients have not visit our clinical for last ≥3 years. Three patients died during follow up. Conclusion: MPS IVA is a severe disorder and is usually fatal in the second or third decade of life due to the complications of the disease. Early diagnosis of the patient became more important, because specific therapy with elasulphase alpha was approved recent years ago.
Authors and Affiliations
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker
Keywords
Related Articles
- EP ID EP382379
- DOI 10.4274/jpr.52244
- Views 115
- Downloads 0
Pediatric Bilateral Pheochromocytoma and Experience of Laparoscopic Cortical Sparing Adrenalectomy
Pheochromocytomas are neuroendocrine tumors. In this report, we present a 15-year-old girl who had cerebral palsy and pheochromocytoma. She also had a diagnosis of hyperinsulinemic hypoglycemia in her history. She underw...
Lymphadenopathies: An Annoyance or Not?
Aim: The aim of this study was to evaluate the cases hospitalized with lymphadenopathy in terms of demographic and clinical characteristics, lymph node involvement regions, infection markers and their diagnoses. Materia...
Superior Mesenteric Artery Syndrome at Pediatric Intensive Care Unit
Superior mesenteric artery syndrome is a rare condition in patients who have oral feeding intolerance. Due to decreased fat tissue around the duodenum, the angle between the superior mesenteric artery and duodenum also d...
Determination of Perceived Social Support and Burnout Levels of Mothers of Children with Intellectual Disability
Aim: The aim of this study is to determine the correlation between the perceived social support and burnout levels of the mothers of intellectually disabled (ID) children and the affecting factors. Materials and Methods:...
Interrelationship Between Childhood Obesity and Pediatric Dentistry: A Literature Review
Childhood obesity is an important public health problem worldwide with an increasing incidence and prevalance. This increase in the obesity rates can lead to many other health problems. Obesity shows early symptoms in ch...