Calvarial defects associated with neurofibromatosis type 1. Report of two cases. 2007

John M K Mislow, and Mark R Proctor, and P Daniel McNeely, and Arin K Greene, and Gary F Rogers
Department of Neurosurgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. jmislow@partners.org

Calvarial osteolysis is a relatively rare finding in patients with neurofibromatosis. The authors describe two patients with neurofibromatosis Type 1 (NF1) and extensive cranial defects associated with underlying dural ectasia. Cranioplasties were performed in both patients with mixed results. One patient underwent cranioplasty using titanium mesh and methylmethacrylate. The other patient underwent an extensive cranioplasty with autogenous iliac crest grafting, and after initial healing has since had further bone resorption. In conclusion, the results of cranial reconstruction in patients with NF1 and dural ectasia are unpredictable because of the tendency for further bone resorption; techniques that protect the graft material from cerebrospinal fluid pulsations via a rigid mesh should be considered.

UI MeSH Term Description Entries
D007085 Ilium The largest of three bones that make up each half of the pelvic girdle. Auricular Surface of Ilium,Iliac Crest,Iliac Crest Bone,Iliac Fossa,Bones, Iliac Crest,Crest Bone, Iliac,Crest Bones, Iliac,Crest, Iliac,Crests, Iliac,Fossa, Iliac,Iliac Crest Bones,Iliac Crests,Iliums
D008297 Male Males
D009456 Neurofibromatosis 1 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D010014 Osteolysis Dissolution of bone that particularly involves the removal or loss of calcium. Osteolyses
D001860 Bone Plates Implantable fracture fixation devices attached to bone fragments with screws to bridge the fracture gap and shield the fracture site from stress as bone heals. (UMDNS, 1999) Bone Plate,Plate, Bone,Plates, Bone
D005260 Female Females
D006257 Head The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs. Heads
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012886 Skull The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN. Calvaria,Cranium,Calvarium,Skulls

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