Case 116

Medical History

The parents of a 2-year and three-month-old male child were worried because a pediatrician had told them that their son might have mucopolysaccharidosis. Looking for a second opinion, they brought him along with some radiographic studies. The child´s medical records showed recurrent sinusitis, bronchospasm and three episodes of pneumonia in the last year. He was the first son of a non-consanguineous couple and no complications during pregnancy, childbirth or postpartum period were reported. On examination, he presented with macrocrania, slightly coarse facies, lumbar gibbus, corneal clouding and hepatosplenomegaly. Weight for age and height for age were within normal values and his neuropsychomotor development was appropriate.

Image 1: Anteroposterior radiograph of the right hand.


Image 2: Lateral radiograph of the spine.


Image 3: Pacient´s picture.


Image 4: Lateral skull radiograph.

Taking the clinical history and radiological findings into consideration, is mucopolysaccharidosis a plausible differential diagnosis? Why?

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