Keywords
enfermedades metabólicas
complicaciones de diabetes
deficiencia de lipasa ácida lisosomal
mucopolisacaridosis tipo 1
síndrome de Mauriac
How to Cite
Abstract
Se presenta un paciente con diabetes mellitus tipo 1, con una complicación poco frecuente conocida como síndrome de Mauriac. Se realizan ayudas diagnósticas tendientes a descartar diagnósticos diferenciales como la mucopolisacaridosis tipo I, que se consideró una de las enfermedades de depósito más probables en el caso del paciente. Finalmente, se presenta una discusión del caso, resumiendo los aspectos fundamentales que llevaron a la sospecha del síndrome de Mauriac.
Abstract
This is a case report of a patient with diabetes mellitus type 1 and a rare complication known as Mauriac syndrome. Laboratory tests were performed to rule out differential diagnoses, such as mucopolysaccharidosis type I, which was considered one of the storage diseases, most likely for the patient. Finally, we present a discussion of the case, summarizing the key issues that led to the suspicion of a Mauriac syndrome.
References
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