A large intrathoracic meningocele, a saccular protrusion of the meninges through a dilated intervertebral foramen or a bony defect of the vertebral column, was diagnosed in a 41-year-old female patient showing clinical features of neurofibromatosis-1 (NF-1), including cafe-au-lait spots, cutaneous neurofibromas, and axillary frecklings and Lisch nodules on the iris. Her daughter and son also had similar manifestations of NF-1. Regular follow-up with periodic imaging was recommended without surgical treatment because there were no signs or symptoms. Meningocele should be differentiated from posterior mediastinal tumors such as neurofibroma, neuroblastoma, and ganglioneuroma because NF-1 has a high risk of tumor formation. We report on this case with a brief review of the literature.
Adult ; Diagnosis, Differential ; Female ; Humans ; Incidental Findings ; Meningocele/*complications/*pathology ; Neurofibromatosis 1/*complications/genetics/*pathology ; Pedigree

Adult ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Neurofibromatosis 1 ; genetics ; pathology

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and registered in the Human Gene Mutation Database (HGMD). In order to assess the NF1 mutational spectrum in Korean NF1 patients, we screened 23 unrelated Korean NF1 patients for mutations in the coding region and splice sites of the NF1 gene. We have identified 21 distinct NF1 mutations in 22 patients. The mutations included 10 single base substitutions (3 missense and 7 nonsense), 10 splice site mutations, and 1 single base deletion. Eight mutations have been previously identified and thirteen mutations were novel. The mutations are evenly distributed across exon 3 through intron 47 of the NF1 gene and no mutational hot spots were found. This analysis revealed a wide spectrum of NF1 mutations in Korean patients. A genotype- phenotype correlation analysis suggests that there is no clear relationship between specific NF1 mutations and clinical features of the disease.
Adolescent ; Adult ; Child ; Child, Preschool ; DNA/chemistry/genetics ; DNA Mutational Analysis ; Genotype ; Humans ; Infant ; Korea ; Middle Aged ; *Mutation ; Neurofibromatosis 1/*genetics/pathology ; Neurofibromin 1/*genetics ; Phenotype ; Research Support, Non-U.S. Gov't

Antineoplastic Agents ; therapeutic use ; Benzamides ; Drug Resistance, Neoplasm ; Exons ; Gastrointestinal Stromal Tumors ; drug therapy ; metabolism ; pathology ; Humans ; Imatinib Mesylate ; Mutation ; Neurofibromatosis 1 ; metabolism ; pathology ; Omentum ; Peritoneal Neoplasms ; metabolism ; pathology ; Piperazines ; therapeutic use ; Prognosis ; Proto-Oncogene Proteins c-kit ; genetics ; metabolism ; Pyrimidines ; therapeutic use