Abstract
We report the autopsy findings of a 63-year-old man with neurofibromatosis type 1 (NF1), in whom widespread ischemic brain lesions caused by vasculopathy associated with the disorder were observed. The patient, who had café au lait macules, axillary freckling, and neurofibromas, was inarticulate of speech, had difficulty in maintaining a sitting position, and was hyporeactive at the age of 57 years. He then developed autonomic dysfunction, followed by consciousness disturbance and status epilepticus. Repeated MRI studies disclosed multiple, ill-defined lesions in the brain and progressive cerebral atrophy. The histopathological features of the lesions were those of ischemia that had occurred with spatiotemporal variability in the brain. Characteristically, many arteries in the subarachnoid space manifested accumulation of cells in the intimal layer: this hyperplasia had resulted in narrowing and occlusion of the lumen. Immunoblotting demonstrated a marked decrease of neurofibromin, the NF1 product, which is known to act as a functional molecule in the normal process of vascular maintenance and repair. This case provides useful information about the pathomechanisms underlying central nervous system manifestations in patients wit...Continue Reading
References
Jul 1, 1992·AJR. American Journal of Roentgenology·R J SevickT Lempert
Mar 1, 1989·Neurology·P K DuffnerD W Shucard
Mar 1, 1988·Neurosurgery·E SobataS Suzuki
Aug 1, 1988·AJR. American Journal of Roentgenology·J R BognannoE C Klatte
Feb 1, 1994·European Journal of Pediatrics·T LehrnbecherH I Huppertz
Feb 1, 1995·Neurobiology of Disease·K K NortonD H Gutmann
Mar 27, 1999·Brain : a Journal of Neurology·A CréangeP Wolkenstein
Sep 24, 1999·The Journal of Clinical Investigation·C WeyerR E Pratley
Aug 3, 2000·European Journal of Pediatrics·V M Riccardi
Nov 15, 2000·American Journal of Medical Genetics·A E LinJ M Friedman
Jan 5, 2001·Clinical Genetics·S J Hamilton, J M Friedman
Jan 5, 2001·Clinical Genetics·V M Riccardi
Aug 16, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·J M FriedmanBruce R Korf
Mar 17, 2004·Current Opinion in Neurology·Deepa Arun, David H Gutmann
Feb 9, 2005·Neurology·Tena L RosserRoger J Packer
Jan 18, 2006·Journal of the Neurological Sciences·Sung-Chun TangPing-Keung Yip
Mar 17, 2007·Lancet Neurology·Rosalie E Ferner
Aug 8, 2007·Journal of Vascular Surgery·Gustavo S OderichAnthony Stanson
Oct 31, 2007·Circulation·Junwang XuJonathan A Epstein
Nov 8, 2007·Neurosurgery·Nicole J UllrichLiliana Goumnerova
Apr 30, 2008·Human Molecular Genetics·Elisabeth A LasaterFang Li
Jun 4, 2008·Acta Neuropathologica·Osamu YokotaHaruhiko Akiyama
Citations
Dec 4, 2013·La Radiologia medica·Felice D'ArcoArturo Brunetti
Feb 16, 2013·Biochemical and Biophysical Research Communications·Hatasu KobayashiAkio Koizumi
May 4, 2010·Human Pathology·Takashi MoritaAkiyoshi Kakita
Dec 5, 2015·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Tadashi KimuraAkiyoshi Kakita
Mar 12, 2015·Orphanet Journal of Rare Diseases·Karin Soares CunhaEliane Pedra Dias