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Short Stature
K Jagadish Kumar, H C Krishna Kumar, Vinay B S, Karan Raheja, Girish G N, V G Manjunath.
Department of Pediatrics, JSS Medical College, JSS University, Mysore, India.
ADDRESS FOR CORRESPONDENCE
Dr K Jagadish Kumar, 85, B,9th Cross , Navilu Road, Kuvempu Nagar, Mysore, Karnataka State, India.
Email: jagdishmandya@gmail.com
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What is the diagnosis?
Morquio disease. It is also called as Mucopolysaccharidosis IV. There are 2 types of Morquio disease- type A and B. Type A is caused by a deficiency of N-acetylgalactosamine-6-sulfatase and type B by a deficiency of ß-galactosidase. Both result in the defective degradation of keratan sulfate. Both types of Morquio disease are characterized by short-trunk dwarfism, genu valga, kyphosis, waddling gait, fine corneal deposits, small teeth with abnormally thin enamel, frequent caries formation and, occasionally, hepatomegaly and cardiac valvular lesions with preservation of intelligence. MPS IV-A is usually more severe than MPS IV-B, with adult heights of Less than 125 cm in the former and More than 150 cm in the latter. Instability of the odontoid process and ligamentous laxity are regularly present and can result in life-threatening atlantoaxial instability and dislocation. Primary prevention through genetic counseling and tertiary prevention to avoid or treat complications remains the mainstay of supportive pediatric care.
Last Updated: July 2011 Vol 8 Issue 7 Art # 47 |