Hurler's disease.
J Indian Med Assoc
;
2005 Jul; 103(7): 385-6, 398
Artigo
em Inglês
| IMSEAR
| ID: sea-103583
ABSTRACT
Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Criança
/
Ceratoplastia Penetrante
/
Mucopolissacaridose I
/
Diagnóstico Diferencial
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
J Indian Med Assoc
Ano de publicação:
2005
Tipo de documento:
Artigo
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