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Short Communication *Corresponding author Susanne Gerit Kircher, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Institute of Attenuated form of Lysosomal Medical Chemistry and Institute of Medical Genetics, Waehringerstrasse 10, A-1090 Vienna, Austria, Tel: 43-1- Storage Disease in a Medieval 40160-56512 or -38077; Fax: 43-1-40160-956531; Email: Submitted: 16 April 2017 Skeleton from Austria Accepted: 24 May 2017 Published: 26 May 2017 Susanne Gerit Kircher* ISSN: 2333-7109 Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria Copyright © 2017 Kircher Abstract OPEN ACCESS 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 Keywords skeletal changes typical of mucopolysaccharidosis and its similarity to a painting by Virchow R 200 • Medieval skeleton years ago have previously been interpreted to indicate Pfaundler-Hurler disease, the early name • Dysostosis multiplex for mucopolysaccharidosis type I. • Lysosomal storage diseases Materials and methods: These previous findings were re-evaluated and compared with those • Mucopolysaccharidosis 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 • Glycoproteinosis dysostosis multiplex. X-rays of the tibial bones revealed the so-called Harris lines similar to those • Harris lines 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.

ABBREVIATIONS The diagnosis was thought to be mucopolysaccharidosis type I, LSD: Lysosomal Storage Disease; MPS: Mucopolysaccharidosis; previously described as Pfaundler-Hurler disease. The skeleton ML: Mucolipidosis; T: Thoracic Vertebra, L: Lumbar Vertebra as belonging to a young man between 20 to 30 years of age. The INTRODUCTION bodywas initially length was classified calculated as a tofemale be 157 but cm, was which ultimately was less identified than the typical mean body length of adult men in the early medieval time Between 1970 and 1973, in the southern region of Lower (165.1 – 179.1 cm) [1,2]. Increased knowledge of the skeletal Austria in Pitten, near Neunkirchen, a medieval graveyard from the 9th century was found. One of the discovered skeletons understanding of patients with attenuated disease courses of (tomb number 126a) was of interest for further investigations lysosomalfindings recognized storage diseases as dysostosis (LSDs), multiplex prompted , as re-evaluation well as clinical of [1]. First, its position at the extreme south-eastern edge of the cemetery indicated that the individual had a disease with mental retardation, because such persons were buried without the initial findings and revision on the basis of clinical experience th any church consecrations until the 20 century. The second MATERIALSand scientific knowledge. AND METHODS reason for further investigations of this skeleton, which had been examined by X-rays and histological analysis of the The bones preserved included: the skull, 2 scapulae, the epiphyses and growth plates 40 years ago, was the multiple sternum, both clavicles, the complete spine (7 cervical, 12 thoracic and 5 lumbar vertebrae), 12 pairs of ribs, the pelvis including multiple changes involving all parts of the skeleton. and os sacrum, the right and left humeri, the right ulna and skeletal findings interpreted as a heritable skeletal disease,

Cite this article: Kircher SG (2017) Attenuated form of Lysosomal Storage Disease in a Medieval Skeleton from Austria. JSM Biochem Mol Biol 4(2): 1025. Kircher (2017) Email:

Central Bringing Excellence in Open Access MPS I, 84-87% of the bone deformities, such as kyphosis, gibbus, [1]. Unfortunately, neither the hand nor the foot bones could scoliosis and hip dysplasias, were found to be consistent with radius, both femora and patellae, and both tibiae and fibulae dysostosis multiplex [12]. In another study, dysostosis multiplex changes, the calculations, measurements, angles and indices used werebe found. based For on the previous assessment studies and investigating categorization medieval of the skeletal graves in all patients with the adult form of GM1-gangliosidosis with in Central Europe [1,3,4]. Further investigations using electron increasingwas identified age [13,14].in 90% of patients with alpha- and microscopy and histology were performed in a subsequent report to elucidate any bony-cartilaginous pathology of the epiphyses structure and ovoid-shape in the thoracic spine and with wedge- [5]. shapedThe vertebraevertebral bodies from L1-L3, were highly thus resulting flattened, in with a kyphoscoliotic a porous-like In this report, descriptions of the pathologic bone bending [1,5]. These changes, especially in the region of the morphology were revised and compared with the typical skeletal thoracolumbar spine (T12), are also characteristic of dysostosis changes known as dysostosis multiplex observed in a group of multiplex , thus leading to the thoracolumbar kyphosis observed lysosomal storage diseases, such as mucopolysaccharidoses in MPS patients (Figure 3A and B) [10,11,15]. There is no precise (MPS), mucolipidoses (ML) and glycoproteinoses, e.g. alpha- description of the odontoid process of the second vertebra, mannosidosis or GM1-gangliosidosis. The bone morphology, which is mainly hypoplastic or aplastic in MPS IV (Morquio X-rays and comparisons with other ancient or medieval skeletons disease) as well as in others MPS types. The os sacrum in the tumors or other genetic diseases from prior literature research with diseases associated with inflammation, life-style, trauma, dysplasia.medieval skeleton revealed signs of spina bifida which might with multi-systemic characteristics of dysostosis multiplex . In be an additional finding and not related to the genetic skeletal The iliac wings are broad, and all pelvic bones have an abnormal theconfirmed context theof knowledge observations of attenuated from the skeleton disease tocourses be consistent in LSDs, the possible diagnosis may be MPS, ML or a glycoproteinosis. withshape a withspongy flat appearance, acetabulae presentingwhich was manyinterpreted irregularities as epiphyseal in the shapes, especially those of the facial bones, were compared with joint surfaces [1,5]. Both femoral heads showed strong flattening thoseTo of highlight another theskull specific of a man changes aged 40in the– 50 skull, years the and forms found and in another grave yard in Lower Austria (Falkenstein), which has dysostosisdysplasia and multiplex, coxa vara several positioning. MPS-patients Although with bilateral MPS flattening IVA have been dated to the 16th – 18th century [6]. Skull morphology and normalof the epiphyses ilia but poor of bothformation femoral of theheads acetabular is a constant roofs [15].finding in cranial indices may change over centuries and do not allow for an In general, the long bones of the Austrian male medieval skeleton appeared to be shortened with several open epiphyseal [7]. unbiased comparison with findings in patients from recent times RESULTS A) skull of the young adult man was relatively heavy, owing to excessiveAs described bone density by Szilvássy (weight 754 and grams), Kritscher with in accentuated 1983, the parietal bones. Via X-rays, a thickening of the skull bones and observed [1]. The head circumference was 53.2 cm, which was relativelya flattened enlarged elongated as sella compared turcica with (‘shoe-shapedʼ the body length. sella) wasThe facial skeleton was relatively small compared with the cranial bones but relatively broad with deeply sunken nasal bones thus suggesting mid-face hypoplasia with a broad nose. There B) was some frontal bossing as compared with the facial shape of the other male skeleton, as well as a prominent maxillary bone and an even more prominent mandibular bone (Figure 1A and of a face illustrated by Virchow 200 years ago (Figure 2) [7]. VirchowB). This characteristic diagnosed this profile female reminded patient with Kritscher cretinism, and coauthorsbut in the author´s view, the patient showed a high degree of similarity to a patient with Pfaundler-Hurler disease, the previous name for Figure 1 (A) Lateral view of a young adult male skull from the early Medieval mucopolysaccharidosis type I [1]. The relatively enlarged head Ages highly suspected to have LSD/MPS. There is mid-face hypoplasia combined (macrocephaly), thickened cortical bone/calvarium, J-shaped with frontal bossing and a prominent maxilla and even more prominent mandibular bone. Tooth irregularities include relatively large teeth. A relatively and obtuse mandibular angle with prognatism are typical small frontal bone with a scaphoid-like form of the skull and prominent temporal sella turcica and facial anomalies with a broad flat nasal bridge, bones are observed as in premature craniosynostosis. - (B) Skull of an adult male observed in several LSDs, in virtually all patients with all types of with syphilitic lesions aged from the late Medieval Ages. The shape of the face is MPSradiological and ML and findings also alpha-mannosidosis in dysostosis multiplex or GM1-gangliosidosis and have been different, with high and rounded frontal bones. There are no signs of mid-face hypoplasia. [9-11]. In a study of 78 patients with attenuated Scheie forms of

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Central Bringing Excellence in Open Access plates, thus indicating decreased disproportionate growth and non-simultaneous bone maturation. In X-rays of the long tubular

bones (except the humeral bones), Szilvássy and Kritscher have identified so-called Harris lines, numerous transverse lines on the proximal and distal ends in the growth zones of the epiphyses, which were first described by Harris [9]. These radiological canchanges be observed were interpreted in an X-ray as from signs the of proximal perturbed end ossification of one tibial of bone,the cartilage illustrated cells in a (Figure report 4).from Interestingly, Morquio of a the14-year-old identified female lines diagnosed with mucopolysaccharidosis [7]. Multiple defects/ erosions and irregular growth plates in the distal femoral and proximal tibial bones have been highlighted in the description of dysostosis multiplex typical for MPS or as the underlying cause for gonarthrosis in other LSDs [10]. Osteoblastic and chondroblastic changes with osteoclastic giant cells and slightly decreased bone

plates, have also been described in ML III alpha/beta [18]. mass, as well as disorganized repair around subchondral bone The sternum was separated at the manubrium and three segments of the corpus, and all epiphyses were open. From

abnormality generally observed in MPS, such as pectus carinatum Figure 2 orthese excavatum, four bone which fragments, is commonly it was notobserved possible in MPSto recognize IV (Morquio any Early drawing by Rudolf Virchow: Kretin aus Unterfranken. disease). (mucopolysaccharidosis type 1). The ʼgestaltʼ is reminiscent of a patient with Pfaundler-Hurler-disease In dysostosis multiplex, the clavicles bones are found to be short and thickened, and the ribs are thickened or paddle-shaped A) B) inconsistent[10]. In the Austrian with dysostosis medieval multiplex, skeleton, because no pathological this discrepancy findings hasof the also clavicles been observed or ribs inwere a retrospective identified. This study might of 5 patients be a finding with MPS IVA and 3 patients with MPS VI in which several patients showed no changes in their clavicles or ribs [15]. Unfortunately, because the investigated Austrian medieval skeleton´s hands and feet were not discovered, they could not provide other typical signs of dysostosis multiplex, such as hypoplastic and irregularly-shaped metacarpal and metatarsal bones [10,19]. DISCUSSION Even skeletons from several thousand years ago can provide

Figure 3 (A): Vertebral spine with platyspondyly and irregular curvature (kyphoscoliosis). There are more severe changes in the thoracolumbar region as often observed in patients with dysostosis multiplex. – (B) Lateral view of Figure 4 the severely abnormal vertebral bone T12, with an irregular wedge-like anterior lines (Harris lines) observed in skeletal diseases with inborn disturbances of X-ray of the proximal part of both tibial bones. Note the horizontal part and porous bone structure. osteochondrotic maturation.

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Central Bringing Excellence in Open Access insights into bone pathology and the events that occured of mucopolysaccharide diseases. In 2004, in the course of during the life of the individual. One observation in a 5,000- railway construction near the village of Saladorf (Tullnerfeld), a year-old skeleton of a young man found in Pontecagnano, th Italy, has revealed signs of double-skull trepanation and femur fracture, thus resulting in chronic osteomyelitis [20]. Several estimatedburial field on with the 28 basis skeletons of the simultaneousfrom the late Antiquitygeological period discovery (4 ofcentury coins A.D.) from was this discovered time. In this [31]. area The aroundage of these Tulln, findings one of was the insights into diseases such as meningiomatous hyperostosis, as auxiliary camps of the Roman legions Lauriacum, Vindobona detectedarchaeological in a skull findings found from near medieval the Rochester skeletons Cathedral have provided in Great and Petronell-Carnumtum served as a village for smaller units Britain [21]. Three other medieval skeletons found in West- of soldiers. Around this time, the original rite of burning was England have provided evidence of erosive peripheral arthritis slowly transitioning to burying the dead with linen shirts and of different disease-associated origins [22]. In another medieval jewelry. Among these 28 skeletons, 5 children younger than skeleton from the 11th – early 12th century from the leprosarium three years of age were found. In one of these skeletons of a child cemetery near Winchester, it was possible to isolate DNA of younger than six months of age (grave number 1781b), a strongly Mycobacterium leprae from a young Pilgrim man who suffered thickened squama temporalis of the pars petrosa and a thickened from leprosy [23]. In a medieval skeleton from the 13th – 15th mandibular bone suspicious of a mucopolysaccharidosis have been found and compared with bones from Pottenbrunn [2]. The in the vertebral bodies with congenital fusions and division bones from Pottenbrunn in Lower Austria, assigned to the early century from Estremoz, Portugal, very specific skeletal changes Middle Ages, included 9 different skeletons of children with a a man between 30 to 45 years of age [24]. bone pathology interpreted as mucopolysaccharidosis (personal abnormalities have been interpreted as Klippel-Feil syndrome in Numerous attempts have been made to corroborate skeletal MPS I (Hurler syndrome) or MPS IV (Morquio syndrome) could dysplasias in ancient specimens on the basis of clinical and notcommunication be made. and 32). In all these cases, a final diagnosis of diseases and their characteristic signs. Indeed, conditions such as In this more than 1,100-year-old Austrian medieval skeleton, achondrogenesis,radiological findings achondrodysplasia, together with present thanatophoric knowledge dysplasia,of genetic there were many signs consistent with dysostosis multiplex, osteogenesis imperfecta and other genetic disorders have been such as a J-shaped sella turcica in a macrocephalic skull with well documented, particularly in recent studies on the collection hyperostosis, frontal bossing, mid-face hypoplasia, a prominent jaw, platyspondyly of the spine with ovoid-shaped vertebrae and of diseases in skeletons from ancient graves are not unique or at the Vrolik museum in Amsterdam [25]. However, even findings region, skeletal involvement with disproportionate growth significantly more pronounced changes in the thoracolumbar another type of mucopolysaccharidosis (MPS VI), were reported retardation and severe bilateral Perthes-like changes in the bynew. Pachajoa The first in illustrations a collection of of a pottery possible from Maroteaux-Lamy the Tumaco-Tolita case, hip joints. Together, these observations led to the diagnosis culture: these pieces were found on the coast of Colombia- of skeletal dysplasia associated with MPS, ML and several Ecuador and dated between 300 B.C. until 600 A.C., approximately other glycoproteinoses, such as alpha-mannosidosis or GM1- 2,000 years ago [26]. gangliosidosis. In all these disorders, attenuated disease courses allow patients to reach an age of several decades. Given the Mucopolysaccharidosis has also been described as one of individual´s estimated age of more than twenty years, the author the differential diagnoses for the humerus varus found in a does not agree with the diagnosis of a (Pfaundler-) Hurler type sub-adult skeleton from a medieval graveyard near Orléans of MPS, but instead suggest an attenuated form of lysosomal in France [27]. These changes in the femoral head very closely disorder, for instance of mucopolysaccharidosis. If MPS type I resemble the observations of Legg-Calvé-Perthes disease in were present, it may have been attenuated Scheie-disease (MPS bones found in archaeological material in a Langobard cemetery IS), although these patients with MPS IS often present with in Moravia and dated from the 5th to 6th century, in which the micrognathy and no mental retardation. The list of possible differential diagnosis of a mucopolysaccharidosis was discussed differential diagnoses should still include MPS II (Hunter presently described skeleton. Parts of an adult skeleton, found in and MPS VI (Maroteaux-Lamy disease), because all of these [28]. In that report, the hip joints were not as flattened as in the conditionsdisease), MPS may III be(Sanfilippo present indisease), adult patients. MPS IV (Morquio Of these, disease), patients evidenceEunpyeong, of a near skeletal Seoul, dysplasia, South inKorea, which - thefrom differential an individual diagnosis with even the rare MPS VII (Sly disease) or other lysosomal diseases ofdwarfism a lysosomal - with disease many has signs been of reportedskeletal dysplasia, [29]. has provided with dysostosisSanfilippo, multiplex, the neuropathic such as form glycoproteinoses of Hunter´s disease or ML, and are associated with mental retardation. But it cannot be excluded, The Austrian medieval skeleton was found at the extreme that any other form of severly impaired functions may have south-eastern edge of the cemetery, thus indicating that the individual had a disease with mental retardation. In other early hearing or visual function, or the immobility that can be expected becausedeveloped, of thestigmatizing severe hip the changes. patient to be retarded, from a loss of conclude the social position of the individual and rites, such as earlymedieval medieval graves, Muslim the position skeletons of burial found appears in the northernto be sufficient areas toof CONCLUSION the Pyrenees on the Iberian Peninsula [30]. Medieval skeletons offer new insights into diseases described Even in other parts of Lower Austria, there have been long after the individual´s deaths. Indeed, it wasn´t until 1918, discoveries of skeletons thought to present with skeletal signs that the Austrian medical doctor Professor Meinhard von

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Central Bringing Excellence in Open Access Pfaundler presented, together with his colleague Doctor Gertrud e0156632. 8. as mucopolysacharidosis type IH [33,34]. The original X-rays of Medicin. Verlag Hamm (G.Grote´sche Buchhandlung).1862: 939-969. Hurler, the first cases of Pfaundler-Hurler disease, later known Virchow R. Gesammelte Abhandlungen zur wissenschaftlichen 9. Engel D. Dysostosismultiplex – Pfaundler-Hurlersyndrome. Arch Dis disease, show impressive similarities to the presented skeleton Child. 1939; 14: 217-230. these first patients with MPS I, first termed Pfaundler-Hurler 10. Palmucci S, Attinà complete skeleton with typical signs of dysostosis multiplex from Saladorf, which is, to our knowledge, the first nearly observed for lysosomal storage diseases, especially in the Imaging. 2013; 4: 443-459. G, Lanza ML, Belfiore G, Cappello G, Foti PV, et al. group of mucopolysaccharidoses [35]. Diseases with skeletal Imaging findings of mucopolysacharidoses: a pictorial review. Insights changes consistent with dysostosis multiplex and characteristic 11. Xing M, Parker EI, Moreno-de-Luca A, Harmouche E, Terk MR. of lysosomal diseases such as mucopolysaccharidoses, can be disorders: non-lipid disorders. Br J Radiol. 2014; 87: 20130467. Radiological and clinical characterization of the lysosomal storage X-ray analysis, as shown in this skeleton from the early medieval 12. Thomas JA, Beck M, Clarke JTR. Childhood onset of Scheie syndrome, carefully classified, documented and even investigated through the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. period. 2010. 33: 421-427. In Austria, a male skeleton more than 1,100-years old was 13. Malm D, Nilssen O. Alpha-mannosidosis. Orphanet J Rare Diseases. recovered, dating from the early Middle Ages. The many signs 2008; 3: 21. of skeletal changes observed in this skeleton showing dysostosis 14. multiplex suggested an underlying mucopolysaccharidosis Findings and Natural History in Ten Unrelated Families with Juvenile as well as other entities from the group of lysosomal storage andKannebley Adult GM1 JS, Silveira-Moriyama Gangliosidosis. J Inherit L, Bastos Metab LOD, Dis SteinerReports. CE. 2015; Clinical 24: diseases. However, the platyspondyly and very severe changes in 115-122. the hip joints at the young adult age, the prominent lower jaw and 15. the rather large teeth were highly reminiscent of patients with et al. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI attenuated forms of Morquio disease (MPS IV). Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, diagnose. Skeletal Radiol. 2014. 43: 359-369. ACKNOWLEDGEMENTS (Maroteaux-Lamy syndrome): under-recognized and challenging to 16. Harris HA. Lines of arrested growth in long bones in childhood; correlation of histological and radiographic appearance in clinical and National Museum of Natural Art, Vienna, Austria and publisher of experimental conditions. Brit J Radiol. 1931; 4: 561-588. I am very grateful to Dr. Herbert Kritscher, Vice-Director of the the ´Annalen des Naturhistorischen Museums´ for the permission 17. Morquio L. Arch MédEnf Paris. 1929; 32:129-135. to reproduce all the pictures he published in earlier articles. 18. CONFLICT OF INTEREST PatholKerr DA, Lab Memoli Med. 2011; VA, 135: Cathey 503-510. SS, Harris BT. Mucolipidosis Type III α/ß. The first characterization of This Rare Disease by Autopsy. Arch 19. Mankin HJ, Jupiter J, Trahan CA. Hand and foot abnormalities I declare that I have no financial interest or any other conflict associated with genetic diseases. 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