A patient with Marfan's syndrome and neurofibromatosis type 1 with polyneuropathy.
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.
Hartlapp
I
I
Department of Neurology, University of Tübingen Medical School, Tübingen, Germany.
Bühring
U
U
Dichgans
J
J
Isenmann
S
S
D000328:Adult; D001921:Brain / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications* / Q000473:pathology; D009431:Neural Conduction / Q000187:drug effects; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D011115:Polyneuropathies / Q000150:complications* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology