Sanfilippo Disease

Barik, Kanal Lal; Kumar, Prabhat; Ghosh, Tark Nath; De, Sangita; Basu, S.

doi:10.3126/jnps.v32i3.6117

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“…This leads us to think that the Runta-Boyacá group can also be used as representative for the natural history of the disease (Table 2). A remarkable finding in these cases was cranial vault hyperostosis, which had been previously reported on a single patient with MPS IIIC in Japan, 20 an Indian patient diagnosed with MPS IIIA, 21 and 2 patients with MPS IIIB. 22 Cranial vault hyperostosis is considered a frequent finding in MPS II, 23 but until now, it has not been considered as a classical finding for patients with MPS IIIC.…”

Section: Discussionmentioning

confidence: 52%

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia

et al. 2016

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Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT. The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group. The authors consider that the high degree of endogamy in this specific population could underlie modifying factors for the severity of presentation in these patients. Future studies might provide more information on the functional effect of this novel mutation, which could define this group as a genetic isolate.

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