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A patient with Marfan's syndrome and neurofibromatosis type 1 with polyneuropathy
Author(s) -
Hartlapp I.,
Bühring U.,
Dichgans J.,
Isenmann S.
Publication year - 2004
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2004.00913.x
Subject(s) - medicine , marfan syndrome , neurofibromatosis , polyneuropathy , neurofibromatosis type 2 , family history , pediatrics , neurofibromatosis type i , dermatology , pathology
Both Marfan's syndrome and neurofibromatosis type 1 are hereditary, autosomal dominant conditions. Here, we report the rare case of a patient fulfilling the clinical criteria for both diseases. In the absence of a family history of either of the two conditions, two independent de novo mutations are the most likely cause.