Sly Disease: Mucopolysaccharidosis Type VII.

Nampoothiri, Sheela; Kappanayil, Mahesh; Hiran, K R; Sunitha, V

Nampoothiri, Sheela; Kappanayil, Mahesh; Hiran, K R; Sunitha, V.

Afiliación

Nampoothiri S; Department of Pediatric Genetics,Pediatric Cardiology, and Pathology, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026,Kerala, India. sheelaknpn@yahoo.co.in

Indian Pediatr ; 45(10): 859-61, 2008 Oct.

Article en En | MEDLINE | ID: mdl-18948660

ABSTRACT

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 beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.

Asunto(s)

Mucopolisacaridosis VII/diagnóstico; Femenino; Humanos; Lactante; Insuficiencia de la Válvula Mitral/etiología; Monocitos/patología; Mucopolisacaridosis VII/complicaciones

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Bases de datos: MEDLINE Asunto principal: Mucopolisacaridosis VII Tipo de estudio: Etiology_studies Límite: Female / Humans / Infant Idioma: En Revista: Indian Pediatr Año: 2008 Tipo del documento: Article País de afiliación: India

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