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VOL. 3, ISSUE 2 (2021)
A case report on maroteaux-lamy syndrome type IV with bilateral ventricular dysfunction
Authors
Susan Philip, Syama Priya Thampi, Gayatri Suresh, Raju Koneri
Abstract
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition which mainly affects the skeleton. Mucopolysaccharidosis type IV (MPS IV) or Morquio syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of. The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process. The odontoid process helps stabilize the spinal bones in the neck. In people with MPS IV, the clear covering of the eye typically becomes cloudy, which can cause vision loss. Some affected individuals have recurrent ear infections and hearing loss. The airway may become narrow in some people with MPS IV, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep aponea). Other common features of this condition include mildly thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical or lower abdomen (inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.
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Pages:01-02
How to cite this article:
Susan Philip, Syama Priya Thampi, Gayatri Suresh, Raju Koneri "A case report on maroteaux-lamy syndrome type IV with bilateral ventricular dysfunction ". International Journal of Medical Science and Research, Vol 3, Issue 2, 2021, Pages 01-02
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