Introduction Neurofibromatosis is an autosomal dominant disorder of neural crest origin characterized by extremity deformities congenital anterolateral bowing and pseudoarthrosis of tibia/ fibula and forearm hemihypertrophy spine involvement scoliosis & kyphosis atlantoaxial instability Epidemiology 1:3,000 births for NF1 Genetics autosomal dominant (AD) mutation in NF1 gene on chromosome 17q21 codes for neurofibromin protein negatively regulates Ras signaling pathway neurofibromin deficiency leads to increased Ras activity affects Ras-dependent MAPK activity which is essential for osteoclast function and survival neurofibromatosis is the most common genetic disorder caused by a new mutation of a single gene Associated conditions scoliosis (see below) anterolateral bowing of tibia bowing of forearm bones with obliteration of medullary cavity ulnar pseudoarthrosis radius pseudoarthrosis neoplasias Prognosis normal life expectancy high incidence of malignancy and hypertension Diagnostic criteria according to the NIH Consensus Development Conference Statement (1987) the diagnostic criteria for NF-1 are met in an individual if two or more of the following are found six or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals. two or more neurofibromas of any type or one plexiform neurofibroma. freckling in the axillary or inguinal region. optic glioma. two or more Lisch nodules (iris hamartomas). a distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudarthrosis. a first-degree relative (parent, sibling, or offspring) with NF-1 by the above criteria.is based on presence of both Classification NF1 (von Recklinghaussen disease) most common NF2 associated with bilateral vestibular schwannomas Segmental NF features of NF1 but involving a single body segment Presentation General Presentation often presents with anterolateral bowing of tibia often presents with radial bowing Physical exam verrucous hyperplasia hemihypertrophy cafe-au-lait spots axillary freckling scoliosis anterolateral bowing or pseudoarthrosis of tibia dermal Plexiform-type neurofibroma may be seen Lisch nodules are benign pigmented hamartomas of the iris Neoplasias (Neurofibromatosis) Neurofibromas (plexiform-type) is pathognomonic for NF1 present in 4% of NF1 may be dermal or in deep tissues often associated with limb overgrowth can undergo malignant transformation to neurofibrosarcoma Wilms Tumor Scoliosis (Neurofibromatosis) Introduction spine is most common site of skeletal involvement in NF-1 scoliosis is NOT associated with NF-2 can take two forms idiopathic-like form (nondystrophic) longer curve and treatment resembles that for idiopathic scoliosis dystrophic form curve is typically thoracic kyphoscoliosis with a short segmented and sharp curve with distorted ribs and vertebrae usually recognized earlier than nondystrophic form generally characterized by a sharp angular curve involving 4 to 6 vertebrae Imaging radiographs show vertebral scalloping penciling of ribs (penciling of 3 or more ribs is a poor prognostic finding and associated with rapid curve progression) enlarged foramina MRI always obtain preoperative MRI to identify dural ectasia and dumbbell lesion (neurofibroma on nerve root) paraspinal masses are useful to distinguish from idiopathic scoliosis Treatment nonoperative observation vs. bracing bracing is not effective for dystrophic form nondystrophic scoliosis in NF is treated like adolescent idiopathic scoliosis operative decompression, anterior spinal fusion (ASF) & posterior (PSF) with instrumentation indications dystrophic scoliosis perform early in young children (< 7 yrs) with dystrophic curves complications high rate of pseudoarthrosis with PSF alone (40%) pseudoarthrosis rate still high with ASF&PSF (10%) some recommend augmenting the PSF with repeat iliac crest bone grafting 6 months after the primary surgery Anterolateral Tibial Bowing (Neurofibromatosis) Introduction epidemiology anterolateral bowing is often associated with neurofibromatosis (NF1) 50% with anterolateral bowing have NF1 10% of NF1 have anterolateral bowing pathophysiology may progress to pseudoarthrosis differentials for tibia bowing anteromedial associated with fibular hemimelia and congenital loss of lateral rays of the foot posteromedial usually congenital due to abnormal intrauterine positioning dorsiflexed foot pressed against anterior tibia will develop leg length discrepancy associated with calcaneovalgus deformity Imaging radiographs obtain AP and lateral of tib/fib Treatment nonoperative bracing in total contact orthosis indications bowing without pseudoarthrosis or fracture (goal is to prevent further bowing and fractures) spontaneous remodeling is not expected osteotomy for bowing alone is contraindicated operative bone grafting with surgical fixation indications in bowing with pseudoarthrosis or fracture amputation with prosthesis fitting indications three failed surgical attempts Syme's often superior to BKA due to atrophic and scarred calf muscle in these patients Techniques intramedullary nailing with bone grafting resect pseudoarthrosis insert Charnley-Williams rod antegrade through resection site, then retrograde through the heel < 4 y.o., extend fixation to calcaneus 5-10 y.o., extend fixation to talus 2 yrs. postop, typically a 2nd surgery to push rod proximally to free the ankle joint free fibular graft often need to take fibula from contralateral side because ilpsilateral fibula is not normal Illizarov's external fixation
QUESTIONS 1 of 19 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK This is an AAOS Self assessment question. Orthobullets was not involved into the editorial process, and does not have the ability to alter. If you prefer to hide SAE questions on topics simply turn them off in your Content Settings (SAE07PE.91) What is the most important sign of impending modulation with rapid progression of a spinal deformity in neurofibromatosis? Review Topic QID: 6151 1 Apical curve rotation 11% (8/73) 2 Anterior vertebral body erosions 10% (7/73) 3 Cervical spine involvement 5% (4/73) 4 Penciling of three or more ribs 41% (30/73) 5 Curve magnitude of more than 50 degrees 33% (24/73) ML 4 Select Answer to see Preferred Response PREFERRED RESPONSE 4 Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ08.25) A 3-year-old boy presents with a leg deformity and multiple skin lesions. Lisch nodules were found on ophthalmologic exam. A clinical photograph and radiographs are shown in Figure A and B. What is the inheritance pattern and mutation that encodes for this condition. Review Topic QID: 411 FIGURES: A B 1 autosomal dominant; mutation in NF1 gene that codes for neurofibromin protein 84% (2095/2505) 2 autosomal recessive; mutation in NF1 gene that codes for neurofibromin protein 12% (308/2505) 3 autosomal dominant; mutation of FGFR3 (fibroblast growth factor recepter) 1% (35/2505) 4 autosomal recessive; mutation of FGFR3 (fibroblast growth factor recepter) 1% (30/2505) 5 autosomal dominant; mutation of GS alpha protein 1% (17/2505) ML 1 Select Answer to see Preferred Response PREFERRED RESPONSE 1 (OBQ08.226) A 60-year-old man presents with the hand condition shown in Figure A. The mass is resected with gross pathology and histopathology representations displayed in Figures B and C, respectively. What is the altered genetic etiology of this condition? Review Topic QID: 612 FIGURES: A B C 1 COMP 3% (26/780) 2 Fibrillin 9% (71/780) 3 Neurofibromin 78% (608/780) 4 COL2A1 6% (45/780) 5 RUNX2/CBFA1 3% (24/780) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 3 (OBQ10.142) All of the following are associated with neurofibromatosis EXCEPT: Review Topic QID: 3230 1 Smooth bordered café-au-lait spots 3% (68/2040) 2 Posterior-medial bowing of the tibia 81% (1651/2040) 3 Short, sharp dystrophic scoliosis 11% (215/2040) 4 Cutaneous neuromas 2% (46/2040) 5 Autosomal dominant transmission from mutated neurofibromin gene 3% (55/2040) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 2 (OBQ08.37) A 3-year-old boy presents with a forearm deformity. Radiographs are shown in Figure A. Ophthalmologic exam shows the lesion seen in Figure B. These finding are most consistent with which of the following conditions? Review Topic QID: 423 FIGURES: A B 1 Achondroplasia 0% (3/1042) 2 Fibrous dysplasia 2% (17/1042) 3 Osteogenesis imperfecta 8% (86/1042) 4 Neurofibromatosis Type 1 86% (895/1042) 5 Ollier's disease 3% (33/1042) ML 1 Select Answer to see Preferred Response PREFERRED RESPONSE 4 (OBQ05.43) The diagnostic criteria for neurofibromatosis type I includes all of the following EXCEPT: Review Topic QID: 79 1 2 or more neurofibromas 2% (14/810) 2 6 or more cafe-au-lait macules 2% (15/810) 3 2 or more Lisch nodules 2% (20/810) 4 freckling on the plantar surface of the feet 81% (657/810) 5 optic glioma 13% (102/810) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 4 (OBQ06.202) A 3-year-old boy presents with the skin lesion seen in Figure A and a leg deformity. Radiographs are shown in Figure B. What is the most appropriate first step in treatment? Review Topic QID: 213 FIGURES: A B 1 observation 21% (488/2324) 2 bracing in total contact orthosis 73% (1693/2324) 3 intramedullary nailing with bone grafting 3% (67/2324) 4 free fibular graft from contralateral side 0% (8/2324) 5 external fixation using Illizarov techniques 2% (56/2324) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 2 (OBQ04.74) All of the following are clinical features of neurofibromatosis type I (NF-I) EXCEPT? Review Topic QID: 1179 1 freckling in the axillae 3% (18/542) 2 optic glioma 9% (49/542) 3 2 or more Lisch nodules 3% (15/542) 4 talipes equinus 84% (454/542) 5 cafe' au lait spots 1% (5/542) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 4 Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK This is an AAOS Self assessment question. Orthobullets was not involved into the editorial process, and does not have the ability to alter. If you prefer to hide SAE questions on topics simply turn them off in your Content Settings (SAE07PE.34) A 10-year-old girl who is Risser stage 0 has back deformity associated with neurofibromatosis type 1 (NF1). She has no back pain. Examination shows multiple cafe-au-lait nevi with normal lower extremity neurologic function and reflexes. Standing radiographs of the spine show a short 50-degree right thoracic scoliosis with a kyphotic deformity of 55 degrees (apex T8). A 10-degree progression in scoliosis has occurred during the past 1 year. There is no cervical deformity. MRI shows mild dural ectasia, primarily in the upper lumbar region. Management should consist of Review Topic QID: 6094 1 observation with repeat radiographs in 6 months. 3% (3/96) 2 a thoracolumbosacral orthosis (TLSO). 22% (21/96) 3 in situ posterior spinal fusion without instrumentation, followed by full-time TLSO bracing. 4% (4/96) 4 anterior spinal convex hemiepiphysiodesis. 2% (2/96) 5 combined anterior and posterior spinal arthrodesis with instrumentation. 68% (65/96) ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 5
Upgrade to View Premium Videos Upgrade to View Premium Videos Excision of thoracic intradural neurofibroma Colin Woon Pediatrics - Neurofibromatosis 11/22/2012 273 views