Affiliations: Department of Pediatrics, University of Padova,
Padova, Italy | Department of Neurology, Central Hospital, Bolzano,
Italy | Department of Physical and Rehabilitation Medicine,
Hospital of Malcesine, Malcesine, Italy | Neurosurgical Department, Bolzano General Hospital,
Bolzano, Italy
Note: [] Address for correspondence: Dr. M. Scarpa, University of Padova,
Gene Therapy Laboratory and Centre for Rare Diseases, Department of Pediatrics,
Via Giustiniani 3, 35128 Padova, Italy. Tel.: +39 049 8213505; Fax: +39 049
8213502; E-mail: [email protected]
Abstract: An Erratum for this article can be found here:
http://iospress.metapress.com/content/e16437020701m0u5/?p=df8dd6709cf44367a0c0e5d917aaeddf&pi=11 We describe the cases of two adult sisters recently diagnosed with
the attenuated form of mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy
syndrome). MPS VI is a rare, clinically heterogeneous lysosomal storage
disorder that is characterized by a deficiency in the
glycosaminoglycan-degrading enzyme arylsulfatase B. Both cases had been
misdiagnosed for over 30 years despite the presence of several characteristics
of the disease, including short stature (mild), coarse facial features,
skeletal dysmorphisms, carpal tunnel syndrome, heart valve disease, and spinal
cord compression, which together are suggestive of a lysosomal storage disease.
Awareness about the clinical features of MPS VI should be communicated amongst
treating neurologists, rheumatologists and other specialists who are involved
in the healthcare decisions of these patients with presenting symptoms, so they
can refer them to specialized centers for proper diagnosis and treatment.
Keywords: Case reports, diagnosis, mucopolysaccharidosis VI, slowly progressive, adult
