[Maroteaux-Lamy syndrome: a case report]. / Syndrome de Maroteaux-Lamy : à propos d'un cas.
Ann Biol Clin (Paris)
; 69(6): 693-7, 2011.
Article
em Fr
| MEDLINE
| ID: mdl-22123570
ABSTRACT
The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mucopolissacaridose VI
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
Fr
Revista:
Ann Biol Clin (Paris)
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Tunísia