Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.

@article{Padberg1991LhermitteDuclosDA,
  title={Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.},
  author={George W. Padberg and Johannes D L Schot and G. J. Vielvoye and Gerard Th. A. M. Bots and Frederick C. de Beer},
  journal={Annals of neurology},
  year={1991},
  volume={29 5},
  pages={517-23}
}
Two unrelated patients with macrocephaly, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). Both also had autosomal dominant Cowden disease as evidenced by facial, oral, and acral papules. In the two families, 9 sibs demonstrated the mucocutaneous lesions, thyroid disease, breast tumors, and ovarian tumors compatible with the diagnosis of Cowden disease. Some of the sibs also showed various degrees of neurological signs such as… CONTINUE READING

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