Een jonge vrouw met hoofdpijn en schedelafwijkingen: een lange weg naar de diagnose 'ziekte van Paget'

- A 37-year-old woman complained of headaches, dizziness and squeaking noises in her right ear that had been going on for about 3 months. After experiencing tingling sensations in the left side of her body she consulted a neurologist, who ordered an MRI scan of her head, on which skeletal abnormalities consistent with multiple metastases of the skull were seen. Extensive clinical screening showed no evidence of a primary tumour. Lab examination showed her serum alkaline phosphatase activity to be twice as high as normal. Bone scintigraphy showed increased uptake in the skull. Plain X-rays of the skull showed large osteolytic areas and a thickened and sclerotic vault of the skull, characteristic of osteoporosis circumscripta due to Paget’s disease of the skull. Treatment with oral risedronate, 30 mg per day for a period of 2 months resulted in a gradual decrease of symptoms and a rapid normalisation of bone turnover parameters. Five years after treatment the patient was still in remission and repeat X-rays of the skull taken after three years showed clear improvement of the osteolytic but not of the sclerotic lesions. Because Paget’s disease has a relatively high prevalence in the elderly, it is important to know that it is not always recognised as such on MRI and that a simple X-ray can lead to the correct diagnosis.

Ned Tijdschr Geneeskd. 2006;150:2150-4