European journal of human genetics : EJHG · 2012
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Babovic-Vuksanovic D, Messiaen Ludwine, Nagel Christoph, Brems Hilde, Scheithauer Bernd, Denayer Ellen, Mao Rong, Sciot Raf, Janowski Karen M, Schuhmann Martin U, Claes Kathleen, Beert Eline, Garrity James A, Spinner Robert J, Stemmer-Rachamimov Anat, Gavrilova Ralitza, Van Calenbergh Frank, Mautner Victor, Legius Eric
Аннотация
Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.