Mc Cance syndrome.

The case is that of a 17-year old Moroccan boy presenting a growing delay and a vitamin D-resistant ricket (VRR). Osseous plain radiographs show demineralization with metaphyseal enlargement, thorax, legs and wrists deformities. Biology data confirms phosphocalcic anomalies with deep hypophosphatemia, normal phosphaturia, low phosphate renal reabsorption rate, normal plasma hydroxyvitamin D in addition to low calciuria. Clinical and biological data evokes an X-linked hypophosphatemia with ricket. This phenomenon is due to Phosphate regulating gene with Homolgy to Endopeptidase on the X chromosome (PHEX) gene mutation. No similar case was reported previously within the family, however, it would have been desirable to complement existing data with parents and siblings genetic study results. Pseudo-deficiency vitamin D resistant ricket (VRR), also referred to as Mc Cance syndrome, has a belated onset within children, and can be linked to a phosphate reabsorption anomaly. The aim of the treatment is to normalize phosphatemia with calcic and vitamin D (vit D) supplementation, so as to make up for calcium lack and avoid hypophosphatemia osseous complications (plasma vitamin D rate reduction and secondary hyperparathyroidism).

Idiopathic hypoparathyroidism and adhesive capsulitis of the shoulder in two first-degree relatives.

INTRODUCTION: Primary hypoparathyroidism and adhesive capsulitis of the shoulder in the same patient does not seem to have been reported previously. We report two cases in first-degree relatives. PATIENTS: Case 1: In 1999, a 41-year-old woman experienced seizures simulating epilepsy. She had been treated 5 years earlier for idiopathic adhesive capsulitis of both shoulders. Computed tomography of the brain showed calcifications in the basal ganglia meeting criteria for Fahr's disease, and incipient bilateral cataract was found. A diagnosis of idiopathic primary hypoparathyroidism was given. After 1 month of calcium and vitamin D supplementation, improvements were noted in the clinical symptoms, laboratory test, and electroencephalogram. Case 2: The 70-year-old father of case 1, who had an unremarkable medical history, had been receiving treatment for about 2 years for adhesive capsulitis of the left shoulder. Routine laboratory tests disclosed idiopathic primary hypoparathyroidism. The outcome was favorable with calcium and vitamin D supplementation. CONCLUSION: Our cases suggest that there may be a common immunological or genetic basis for primary hypoparathyroidism and adhesive capsulitis. Alternatively, adhesive capsulitis may be a manifestation of hypoparathyroidism. Although genetic factors involved in primary hypoparathyroidism have been elucidated, the pathophysiology of the disease remains unclear. Finally, a chance association remains possible.