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This report concerns another case of striped bone disease (Osteopathia striata) together with sclerosis of the base of the skull. The mode of inheritance of this rare genetic disorder is still unknown. The clinical characteristics of 20 cases reported in the international literature are summarized and compared with our own findings.

A patient with the clinical features of pseudohypoparathyroidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.

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