Publication Type:

Journal Article

Source:

Indian Pediatrics, Volume 45, Number 10, p.859-861 (2008)

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-55849141922&partnerID=40&md5=8f1cc17c324f2863d2afa5490ef7ed03

Keywords:

anamnesis, article, beta glucuronidase, case report, clinical feature, cornea disease, disease severity, echocardiography, Electrocardiography, enzyme blood level, female, hepatosplenomegaly, human, Humans, India, infant, leukocyte, Mitral Valve Insufficiency, mitral valve regurgitation, Monocytes, mucopolysaccharidosis type 7, Mucopolysaccharidosis VII, thorax radiography

Abstract:

A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of β-glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.

Notes:

cited By (since 1996)2

Cite this Research Publication

Sad Nampoothiri, Mahesh, Kb, Hiran, K. Rc, and Sunitha, Va, “Sly disease: Mucopolysaccharidosis type VII”, Indian Pediatrics, vol. 45, pp. 859-861, 2008.