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Øivind Torkildsen, MD; Per Morten Knappskog, PhD; Harald I. Nyland, MD, PhD; Kjell-Morten Myhr, MD, PhD

Arch Neurol. 2008;65(6):809-811.

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.

Author Affiliations: Department of Clinical Medicine, University of Bergen (Drs Torkildsen, Knappskog, Nyland, and Myhr), and Department of Neurology, Norwegian Multiple Sclerosis Competence Center (Drs Torkildsen, Nyland, and Myhr) and Center of Medical Genetics and Molecular Medicine (Dr Knappskog), Haukeland University Hospital, Bergen, Norway.

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