title: Widespread central nervous system cavernous malformations associated with café-au-lait skin lesions. Case report.
abstract: The simultaneous presence of cavernous malformations in the brain and spinal cord is a very rare finding and is typically associated with familial cavernous malformations. Although they are uncommon, various skin lesions can manifest in patients with familial cavernous malformations. The authors report on a 60-year-old man in whom more than 100 lesions consistent in appearance with cavernous malformations, including several intramedullary spinal cord lesions, were found throughout the neuraxis. This patient also displayed prominent café-au-lait skin lesions, but had no additional signs of neurofibromatosis or other neurocutaneous disorders. Analysis of his DNA revealed a novel mutation in the KRIT1/CCM1 gene, thereby confirming the diagnosis of familial cavernous malformation. The presence of these lesions in every major compartment of this patient's central nervous system underscores their indiscriminate nature and the need to screen throughout the neuraxis in patients in whom familial cavernous malformations are suspected. The findings in this case add to the growing list of skin lesions associated with genetically confirmed familial cavernous malformations. In patients presenting with seizures, focal neurological deficits, or hemorrhagic stroke, the presence of unusual skin lesions should prompt consideration of familial cavernous malformations, and appropriate screening should be performed.
authors.affiliation: Department of Neurosurgery, New York Medical College, Valhalla, New York 10595, USA.
authors.forename: Kiran
authors.initials: K
authors.lastname: Musunuru
authors.forename: Virany Huynh
authors.initials: VH
authors.lastname: Hillard
authors.forename: Raj
authors.initials: R
authors.lastname: Murali
mesh_terms: D001921:Brain / Q000473:pathology / Q000601:surgery; D019080:Cafe-au-Lait Spots / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D006392:Hemangioma, Cavernous / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008780:Methyltransferases / Q000235:genetics; D008869:Microtubule-Associated Proteins / Q000235:genetics; D008875:Middle Aged; D008967:Molecular Biology / Q000379:methods; D020125:Mutation, Missense / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012720:Severity of Illness Index; D013116:Spinal Cord / Q000002:abnormalities* / Q000098:blood supply / Q000601:surgery
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins; D008780:Methyltransferases; C055097:mRNA (guanine(N7))-methyltransferase