Epilepsy and myopathy in a patient with Rothmund-Thomson's syndrome.
A report of a 21-year-old female, who has had Rothmund-Thomson's syndrome since early childhood, is given. In addition to the original disease with skin and tendon manifestations, she has also developed myopathy and epilepsy. It is discussed whether these two recent manifestations are part of her original syndrome or of different pathogenesis.
D000328:Adult; D004830:Epilepsy, Tonic-Clonic / Q000150:complications*; D005145:Face; D005260:Female; D006225:Hand; D006801:Humans; D007866:Leg; D009135:Muscular Diseases / Q000150:complications*; D011038:Rothmund-Thomson Syndrome / Q000150:complications*; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications*; D013577:Syndrome