Vitamin D-Dependent Rickets as a Possible Risk Factor for Multiple Sclerosis.
Torkildsen, Oivind MD; Knappskog, Per Morten PhD; Nyland, Harald I. MD, PhD; Myhr, Kjell-Morten MD, PhD
[Miscellaneous Article] Archives of Neurology. 65(6):809-811, June 2008.

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Background: Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare hereditary condition caused by a mutation in CYP27B1. Vitamin D is emerging as an important risk factor for susceptibility to multiple sclerosis (MS), but there have been no studies on the possible association between hereditary rickets and this disease.

Objective: To investigate the association between VDDR I and MS.

Design: Case studies.

Setting: Haukeland University Hospital, Bergen, Norway.

Patients: Three patients in 2 families with a co-occurrence of VDDR I and MS.

Results: All 3 patients had VDDR I verified by genetic testing and fulfilled the Poser criteria for MS. Two of the patients have undergone magnetic resonance imaging, which confirmed the diagnosis of long-lasting MS.

Conclusions: Vitamin D-dependent rickets type I is a very uncommon genetic subtype of rickets. We have identified 3 patients with this disease who later developed MS. We propose that VDDR I and possibly other hereditary rickets mutations that influence vitamin D metabolism could be risk factors for this disease.

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