achados radiologicos.p65 - SPR

Paula AC et al. / Achados radiológicos em pacientes com mucopolissacaridose tipo VI
observando-se melhora significativa quando esta é instaurada
precocemente. Dessa forma, a identificação dos
portadores de MPS deve ser procedida o mais rápido
possível e o estudo radiológico desempenha papel importante
para o estabelecimento do diagnóstico clínico
das MPS.
Deve ser recomendado o estudo radiológico completo
para os pacientes com suspeita clínica de MPS. A dosagem
enzimática é o diagnóstico definitivo.
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Abstract. Radiological findings in patients with mucopolysaccharidosis
type VI (Maroteaux-Lamy syndrome).
OBJECTIVE: To systematize the radiological findings in patients
diagnosed with mucopolysaccharidosis VI examined at the Genetic
Unit and at the Image Diagnostic Service of “Hospital das Clínicas
da Faculdade de Medicina da Universidade de São Paulo”. MATE-
RIAL AND METHOD: Five patients with mucopolysaccharidosis VI
(two boys and three girls) were included in this study. A complete
X-ray survey was performed in all patients. RESULTS: The patients’
age ranged from 8y1mo to 20y5mo (mean age 14y2mo). The radiological
findings observed in all patients were: macrocephaly,
premature closure of the sutures, oar shaped ribs, hypoplastic
glenoid fossae, hatchet-like aspect of the proximal humerus, irregular
and hypoplastic acetabular roofs, thin femoral neck and
small and irregular carpal bones. CONCLUSION: The radiographic
findings seen on patients were consistent with the disease. Marked
findings that confirmed the progression of the disease were seen
in the oldest patient with the most advanced stage of the disease.
X-ray survey was an important supportive method for the diagnosis
and follow-up of clinical progress.
Keywords: Mucopolysaccharidosis VI; Dysostosis multiplex.
12 Rev Imagem 2006;28(1):7–12