Abos Day 37 A 1-3

Front 1

Anterolateral tibial bowg is ass w/ which of the follwg LE conditions in children? 1 Calcaneovalgus foot defrmt
2 Cong pseudoarthrosis tibia 3 Fibular hemimelia 4 Cong. talipes equinovarus 5 Cong vertical talus

Back 1

2 congenital pseudoarthrosis; & anteral tibial bowing of the tibia are related conditions & represent a continuum of the same dz process. MC seen in children with neurofibromatosis.

Front 2

Name 3 types of tibial bowing exist in children & what dz associated with?

Back 2

1 anterolateral bowing (this topic) 2 posteromedial bowing (physiologic) 3 anteromedial bowing (fibular hemimelia)

Front 3

1what is AL bowing associated with? 2 characteristics of its association?

Back 3

neurofibromatosis type I- is found in 50-55% of patients with anterolateral bowing

Front 4

Neurofibromatosis PE-I/P; mnemonic (ROSES)

Back 4

ROLANDO HALS : Relative (1st deg) Osseous fibromas; Lisch nodules eyes; Axillary freckg; Neurofibromas; >6 Dime size cafe au lait spts 2 Optic gliomas; verucous Hyperplasia-abn inc # nl cells in tiss; HemihypeT; AL bowg/Tibia 5 Scoli

Front 5

Neurofibromatosis
1 defition of condition; 2 genetic defct; 3 MC genetic dz caused-

Back 5

1AD dz neural crest org aff extrm & spine 2 mut NF1 gene chrom 17q21-> neurofibromin protein-> neurofibromin deficicy incr-> Ras activity-> MAPK-> osteoclast function & survl; 3 MC gen dz caused->new mutat single gene

Front 6

Neurofibromatosis
4A Sx-assoc;

Back 6

4A AL bowg- tibia &often w/ radial bowg; assc-scoli; 4B: AL bowg of tibia; neoplasias; NF1 (von Recklinghaussen dz)-MC; NF2- ass w/ b/l vestibular schwannomas

Front 7

Neurofibromatosis
4B PE-I/P; diagnostic criteria for NF-1

Back 7

4B if 2 or (+) follwg:1- 6 or (+)café-au-lait macules >5 diam prepubertal & >15 postpubertal 2- 2 or (+) neurofibromas any type/1plexiform neurofibroma 3 frecklg axillary/inguinal; 4 optic glioma; 5 2 or (+) Lisch nodls (iris hamartomas);

Front 8

Neurofibromatosis
4B diagnostic criteria for NF-1

Back 8

6 distinctive osseous lesion such as sphenoid dysplasia / thinning of long bone cortex w/ or w/out pseudarthrosis.
7 first-degree relative (parent, sibling, or offspring) with NF-1 by the above criteria.is based on presence of both

Front 9

Neurofibromatosis
5 xray findings; 6 Tx

Back 9

5 dystrophic form-curve is typ thoracic kyphoscoliosis w/short segmtd &sharp curve w/distorted ribs & vertebrae; vertebral scalloping; penciling ribs (penciling of 3/ (+) ribs is a poor prognositc findg & assd w/ rapid curve progn
enlarged foramina

Front 10

Neurofibromatosis
6 Tx

Back 10

intramedullary nailing with bone grafting
free fibular graft
Illizarov's external fixation

Front 11

All of the following are assd w/ neurofibromatosis except:1 Smooth bordered café-au-lait spots; 2PM bowg tibia 3 Short, sharp dystrophic scoliosis; 4 Cutaneous neuromas; 5. AD transmission from mutated neurofibromin gene

Back 11

AL bowg (ass w/ pseudarthrosis) tibia-> neurofibromatosis & PM tibial bowg -> packg'g prob. during gestion;Café-au-lait spts-> smooth "coast of California" borders & rough "coast of Maine" spots -> McCune-Albright synd Ans 2

Front 12

3 yo boy w/ leg deform & multiple skin lesions. Lisch nodules were found on ophthalmologic exam. clinical photo & xrays Fig A & B. What inheritance pattern & mutation that encodes for dz.

Back 12

1 AD; mutation in NF1 gene codes neurofibromin prtn 2 AR; mutation in NF1 gene codes neurofibromin prtn
3 AD; mutation of FGFR3 recepter; 4. AR; mutation of FGFR3; 5AD; mutation of GS alpha protein
ans (1)

Front 13

3yo B w/ forearm defrm. xray Fig A. Ophthalmologic exam shows Fig B. These finding are most consistent w/ dz? 1 Achondroplasia; 2 Fibrous dysplasia 3 OI; 4 Neurofibromatosis Type 1 5 Ollier's dz

Back 13

Ans 4. Neurofibromatosis Type 1;

Front 14

60yo M w/ hand cond Fig A. The mass is resected w/ gross path & histopathy Fig B & C. What is the altered genetic etiology condtn? 1. COMP 2. Fibrillin 3. Neurofibromin 4. COL2A15. RUNX2/CBFA1

Back 14

Neurofibromatosis type 1 (NF1); multiple cutaneous neurofibromas, & plexiform neurofibroma, which the characteristc "bag of worms" appearance, is pathognomonic for NF1. Ans 3

Front 15

3yo B w/ the skin lesion Fig A & leg deformity. xrays in Fig B. What is the most appropriate 1st step in tx:1 obser 2 bracg in total contact orthosis 3 IM nailg w/ BG; 4. free fibular graft from contral side 5. EX-fix Illizarov technque

Back 15

bracing in total contact orthosis, aka clamshell orthosis. ; AL tibial bowg. Neurofibromatosis is the MC cause of AL tibial bowg & congenital pseudoarthrosis of the tibia; If pt fx/pseudoarthrosis, then treat w/ surgery.Ans 2

Front 16

DX criteria for neurofibromatosis type I includes EXCEPT:1. 2 or more neurofibromas 2. 6 or more cafe-au-lait macules; 3. 2 or more Lisch nodules; 4. freckling on the plantar surface of the feet; 5. optic glioma

Back 16

freckling on the plantar surface of the feet Ans 4

Front 17

All of the following are clinical features of neurofibromatosis type I (NF-I) EXCEPT? 1. freckling in the axillae 2. optic glioma 3. 2 or more Lisch nodules 4. talipes equinus 5. cafe' au lait spots

Back 17

talipes equinus Ans 4

Front 18

14yo M child w/ incr foot defrmty Fig A. PE, is unable to walk on heels & has dec Achilles reflexes b/l. Coleman block testg reveals correctable hindfoot def. Which proced ass w/ imprvd outcomes pts w/ above described condition?

Back 18

1 Trans peroneus brevis-peroneus longus; 2. Split ATT transfer-lat colmn; 3. 3 arthrodesis; 4. PTT transfer through interosseous memb dorsm ft; 5. Lat colmn lengthg calc osteotomy; Ans 4;Coleman block test+flex hindfoot S.T. transfers, not osteotomies

Front 19

32 yo M c/o lat ft pain & progr awkward gait. (+) fam hx "foot problems" & reports minor burng & numbness b/l ft. PE b/l cavus feet-clawg toes & intrinsic muscle wastg hands. Fig A. Which is respon for pts initial sx & awkward gait?

Back 19

1 Weak gastrocnemius-soleus 2 Peroneus brevis overpowering the PTT 3 ATT overpowering peroneus longus; 4 Plantar flex 1ST ray; 5 Clawg toes
Ans:4. weak ATT overpowered by unaffected peroneus longus-> 1st ray planflexd

Front 20

PMP22 (peripheral myelin protein 22) is found cytogenetic location found Fig A. What ped congenital dz is asso w/ mutat gene? 1 Duchenne's/Becker's muscular dystrphs; 2 Limb-girdle dystrphs; 3 Myotonic dystrphy 4 CMT dz 5. Spinal muscl atrph

Back 20

4CMT Dz; sensory motor demyelinating neuropathy that is AD & is often due to a mutation of PMP22 (peripheral myelin protein 22) located at Chromosome 17p12

Front 21

22yo F concerned about freq ankle sprns & awkward gait. LE nerve conduction velocities-> prolonged distal latencies in peroneal nerves. DNA testing shows a duplication of chrom 17. Which of the follwg is most likely xray of this pt?

Back 21

(CMT), is a demyelinating disorder of the peripheral nervous system. pes cavovarus, claw toes, and frequent ankle sprains. imbalance distal musculature, w/peroneus brevis and tibialis anterior being relatively overpowered by the peroneus longus

Front 22

5 yo B has b/l cavus ft & genetic testg reveals dupln PMP (peripheral myelin protein) gene chrom17. What is Dx? 1 Myelodysplasia; 2 Ewings Sarcoma 3 CMT Dz
4. Cerebral Palsy 5. Poliomyelitis

Back 22

3CMT; all forms of the CMT distal weakness primarily in F & A ; somewhat later in life the hand may be affected as well. pts end of the first decade w/ progrsv cavovarus ft assoc w/ dorsiflexion toes->swing phase of gait & contracture of the plantar fascia.