Introduction There is little available evidence on the differential etiologic diagnosis of recurrent inguinal hernia, particularly if the original causative disorder is a storage disease...

Material and methods The examination of un affected boy, at first consulting in surgery for a recurrent inguinal hernia, reveals in addition a marked dysmorphism with a peculiar umbilical hernia; uncommon for a 23 months infant... Careful palpation notes a mild hepato-splenomegaly; rising the suspicion of a Mucopolysaccharidosis –MPS-

Prompt Dry Blood Test for enzymatic essay, combined to urinary glycosaminoglycans – GAG- collection and molecular genetic testing, confirm the diagnosis of MPS 2 – Hunter disease.

Immediate enzyme replacement therapy is ordered, as well as referring to haematology consultancy for a rapid bone marrow transplant

Management is differed after ERT and a possible bone marrow transplant; with a special attention to the anaesthetic dangers for such a condition.

Results and discussion Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterised by glycosaminoglycans (GAG) accumulation.

The latter gives an hyperlaxity aspect to the mucocutaneous tissues leading to such recurrent hernias

Surgeons ought to be aware of this peculiar presentation of attenuated mucopolysaccharidosis, in time of onset and types of clinical related features.

Conclusion Recurrent inguinal hernias, specially if associated to dysmorphic features and visceromegaly, should be promptly managed as a probable metabolic – lysosomal storage disease, chiefly a mucopolysaccharidosis.