D2a. Signs and Symptoms

The first signs and symptoms can easily be missed



However  this is the same child taking his bath and here he is 9 months of age. He has very frequent upper airway disease. Of course all children have very frequent upper airway disease but this is really a bit too much. Frequent middle ear infection, there is a thoraco-lumbar kyphosis, you cannot see it but it is highlighted, and this is a very rare event in young children.  That in combination with the recurrent inguinal hernia should raise the suspicion of an MPS disease and mucopolysaccharidosis in this child. Actually this child has MPS1, the severe phenotype of MPS type 1, which is also called the Hurler syndrome.







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