Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
نویسندگان
چکیده
منابع مشابه
Mucopolysaccharidosis type IV (Morquio syndrome).
Fig. 4 : Photomicrograph of general blood picture showing inclusion bodies in lymphocyte (Gasser cell). A 5-year-old boy was brought to our medical OPD with severe chest deformity and growth retardation. He had six siblings of which two more had similar illness in a 21-year-old sister and 1-year-old brother (Fig. 1). His parents and grand parents had no such illnesses. Clinical examination reve...
متن کاملHeart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
BACKGROUND Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with...
متن کاملElosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome).
INTRODUCTION Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intrav...
متن کاملHow to predict and diagnose postthrombotic syndrome.
Postthrombotic syndrome (PTS) is the most frequent complication of deep vein thrombosis (DVT). From 20% to 50% of the patients will develop PTS after DVT, and from 5% to 10%, severe PTS. PTS is diagnosed on clinical grounds, based on the presence of signs and symptoms of venous insufficiency in the leg ipsilateral to DVT. The Villalta scale, a clinical scale that incorporates venous symptoms an...
متن کاملOvercoming 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...
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ژورنال
عنوان ژورنال: Skeletal Radiology
سال: 2014
ISSN: 0364-2348,1432-2161
DOI: 10.1007/s00256-013-1797-y