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  • Title: [Association of type 1 neurofibromatosis and primary hyperparathyroidism].
    Author: Moiton MP, Bijou F, Vargas F, Valentino R, Gruson D, Hilbert G, Bénissan G, Cardinaud JP.
    Journal: Presse Med; 2002 Oct 19; 31(34):1604-5. PubMed ID: 12426977.
    Abstract:
    INTRODUCTION: The combination of neurofibromatosis type I with hyperparathyroidism is classical but rare. OBSERVATION: Our report is on the original observation of a patient affected with Von Recklinghausen's disease complicated by chronic restrictive breathing deficiency. After an intense breathing decompensation and a spreading convulsive attack, hyperparathyroidism was diagnosed. DISCUSSION: The similarity of the bone lesions seen in type I neurofibromatosis and in hyperparathyroidism strongly suggests a genetic link between these two pathologies. Hence, hyperparathyroidism should be searched for in all patients affected with Von Recklinghausen's disease, since the adjustment of hypercalcemia can lead to partial reversibility of the bone abnormalities.
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