Attenuated form of Lysosomal Storage Disease in a Medieval Skeleton from Austria

Introduction: Forty years ago, a medieval skeleton from the 9th century was found near Pitten, Austria. The skeleton ́s burial position at the edge of the cemetery, the presence of multiple skeletal changes typical of mucopolysaccharidosis and its similarity to a painting by Virchow R 200 years ago have previously been interpreted to indicate Pfaundler-Hurler disease, the early name for mucopolysaccharidosis type I. Materials and methods: These previous findings were re-evaluated and compared with those for another medieval male skull without lysosomal storage disease but with syphilitic changes. Of special interest was the shape of the skull and face, as well as the typical bony lesions observed in dysostosis multiplex. X-rays of the tibial bones revealed the so-called Harris lines similar to those observed in Morquio syndrome in early reports by Morquio L. Results: Many parts of the skeleton showed signs consistent with dysostosis multiplex: mid-face hypoplasia with a broad nasal bridge, prominent jaw, osteosclerosis of the skull with scaphoid form, elongated sella turcica, signs of premature synostosis of the coronary suture, kyphoscoliosis, platyspondyly with ovoid-like vertebrae and more severe changes in the thoraco-lumbar region, broad iliac wings, severe joint changes in the hypoplastic acetabulae and markedly flat heads of the femoral bones in the varus-position, and shortening of the long bones, thus resulting in a moderate, short stature. Discussion: On the basis of the individual ́s age and current knowledge of lysosomal storage diseases, this young man most probably had an attenuated form of one disease of this group of disorders. The burial of a disabled individual may indicate intellectual disability, as well as severe deficit in vision, hearing or immobility, which are observed in untreated adult patients with mucopolysaccharidoses or several other lysosomal storage disorders.