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Slide 1-

Syndromes of Orthopaedic Importance Meghan Imrie, MD Core Course Curriculum January 27, 2016
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Syndromes overview “orthopaedic importance” What ABOS/AAOS/POSNA expects you to know What the patient’s parent in peds clinic that day wants you to know What you actually need to know for practice
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Syndromes Overview Looked through OITE from 2005-2010 Ordered the syndromes by frequency of testing during that time NOT complete review of syndromes “knee jerk” approach - what you need to know for testing
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Syndromes overview A few practical tips Take close family history Make an excuse to leave the room and consult book or internet Re-evaluate patient for further features learned from above If any question, call or refer to genetics
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Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
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Osteogenesis Imperfecta Technically, a metabolic/endocrine bone disease Genetic disorder of connective tissue leading to increased bone fragility Wide clinical variation >90% have identifiable, genetically determined qualitative and/or quantitative defect in type I collagen Skin test vs DNA blood test Still, clinical diagnosis
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Osteogenesis Imperfecta Pathophysiology (forgive the simplification, Lane!) Type I collagen major structural connective tissue protein of skeletal system Composed of 3 strands of collagen protein 2 alpha 1 strands and 1 alpha 2 strand COL1A1 encodes pro-alpha 1; COL1A2 encodes pro-alpha 2 Quantitative defect: often heterozygous with one copy not producing any Qualitative defect: error in substitution or deletion leading to abnormal, less effectual collagen
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Osteogenesis Imperfecta Wide clinical variation Non-accidental trauma vs fracture from mild OI Difficult distinction if no family history, blue sclerae, etc Involve CPS if any question With increased genetic knowledge, classification increasingly difficult/muddled Some thought to simplified phenotypic classification: mild, moderate, severe, lethal Sillence classification Most commonly used
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Osteogenesis Imperfecta
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Osteogenesis Imperfecta General treatment principles Bones heal fairly predictably, but do not remodel reliably Our usual “as long as they are in the same room” kid rules therefore don’t always apply Under age 2, can usually treat more or less regularly For minimally displaced,angulated fractures, immobilize for as short a duration as possible Until child no longer symptomatic To prevent further osteopenia/fracture risk Don’t use plates Intramedullary devices best Rush rods, telescoping rods
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Osteogenesis Imperfecta Sofield osteotomies For deformed long bones Indications fairly varied “shish-kebob” osteotomy Stabilize with rush rod or telescoping rod (Bailey-Dubow, Fassier-Duval) Scoliosis Not uncommon Bracing not usually used due to risk of rib deformity Challenging surgically Usually for curves >50 or 60 degrees
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Osteogenesis Imperfecta - Sofield osteotomy
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Osteogenesis Imperfecta - Sofield osteotomy
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Osteogenesis Imperfecta - Sofield osteotomy
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Osteogenesis Imperfecta - Sofield osteotomy
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OI - possibly tested material Basilar impression/invagination Due to soft bone of foramen magnum/microfractures of skull base Leads to direct brainstem compression Most common in type IVB Sxs: headache, dysarthria, dysphagia, spasticity, increasing contractures Plain films not very helpful Need 3-D imaging (MRI probably best) Rx: often, anterior decompression/PSF (neurosurg) Bisphosphonate use in OI Depending on area of practice, still controversial IV pamidronate currently “gold standard” Numerous studies show increase in BMD by DEXA (?clinical implication?) Some studies report Decreased fxs Decreased pain Better mobility Increased height Placebo trial vs po alendronate: no change in fx rate Bottom (biased) line: don’t forget the half-life of these meds…
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OI - summary “brittle bone” disease Due to quantitative and/or qualitative defects in type I collagen COL1A1 and COL1A2 culprits Varied clinical spectrum Mild OI and NAT can be difficult to distinguish Olecranon fracture in adolescent on OITE = probably has OI Usual peds fracture principles don’t necessarily apply Remodeling unpredictable Don’t plate Sofield osteotomy work horse for deformities Be on look out for basilar invagination (especially in adults) Bisphosphonates may be tested: pamidronate gold standard, increase DEXA definitely, probably reduce fracture rate and pain But we don’t currently recommend them…
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Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
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Neurofibromatosis Hereditary, AD, hamartomatous disorder affecting: Central nervous system Peripheral nervous system Skeleton Skin Deeper soft tissues 50% spontaneous mutation Two types: NF-1: aka von Recklinghausen’s disease Defect on chromosome 17 NF-1 gene encodes neurofibromin protein Tumor suppressor gene --> key protein in cell growth and differentiation Peripheral NF NF-2: bilateral acoustic NF Defect on chromosome 22 Central NF Rare orthopaedic manifestations
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Neurofibromatosis NIH diagnostic criteria for NF 1 = need >2 More than six café au lait spots, at least 15 mm in greatest diameter in adults and 5 mm in children Two or more neurofibromas of any type or one plexiform neurofibroma Freckling in the axillae or inguinal regions (Crowe's sign) Optic glioma Two or more Lisch nodules (iris hamartomas) = pathognomonic A distinctive bone lesion, such as sphenoid dysplasia or thinning of the cortex of a long bone, with or without pseudarthrosis A first-degree relative (parent, sibling, or offspring) with neurofibromatosis type 1 by these criteria
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Neurofibromatosis MSK manifestations Less than 10% of NF 1 patients req ortho mgmt Tibial bowing and pseudarthrosis Scoliosis Hemihypertrophy Other sites of “dumb” bone forearm
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Neurofibromatosis Tibial issues AnteroLateral bowing AL = café Au Lait spots (don’t laugh, my brain is small) Management Try to prevent fracture Clamshell orthosis Do not operate if not broken! If it breaks No bueno :( Hope you like the family… Some peds ortho MDs using BMP in this situation When all else fails, Symes
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Neurofibromatosis Scoliosis - most common MSK Rates 10-60% of NF pts Dystrophic vs non-dystrophic Important distinction as natural history very different Dystrophic Characterized by: Short, sharp curve Vertebral scalloping Enlarged foramina Pencilling of ribs (> 3, 87% risk of progression) Kyphotic Non-op (ie brace) rx not effective Get an MRI pre-op A/PSF recommended due to high pseudoarthrosis rate with posterior only Non-dystrophic Behaves like IS But can switch to dystrophic type
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Neurofibromatosis Hemihypertrophy Rare Debulking unsatisfactory Try epiphysiodesis for LLD Other areas of “dumb” bone Forearm Has been tested on OITE (on diagnosis, not on treatment)
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Neurofibromatosis - summary AD disease of CNS, PNS, skin, skeleton Café au lait spots: Coast of California NF 1 (chromosome 17, neurofibromin protein) has MSK manifestations Most common genetic disorder caused by mutation in single gene Dumb bone problems Anterolateral tibial bowing: prevent fracture, don’t do osteotomy! Scoliosis: dystrophic curves worse, need MRI and A/PSF Dumb bone can be anywhere Forearm seems favored by OITE
Slide 26-

Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
Slide 27-

Charcot Marie Tooth Disease One of hereditary motor sensory neuropathies (HMSN) Motor sensory demyelinating or axonal neuropathy But motor much more involved than sensory 2 main types with two more recent forms identified CMT 1: manifests earlier AD More common CMT 2: manifests in 3rd decade AD or AR DTRs preserved CMTX: Second most common form X-linked dominant Orthopaedic manifestations similar
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Charcot Marie Tooth Diagnosis confirmed by DNA testing Numerous genetic abnormalities CMT 1: duplication in chr 17, coding for peripheral myelin protein 22 (PMP 22) CMT X (x-linked CMT): mutations in connexin32 gene Little correlation between genotype and phenotype
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Charcot Marie Tooth Orthopaedic manifestations: Feet Cavovarus Hip Late dysplasia Spine Scoliosis (with kyphosis) Hand Intrinsic weakness with clawing
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Charcot Marie Tooth Cavovarus foot From various muscle imbalances Intrinsic muscle wasting --> clawing of toes, contracture of plantar fascia Anterior tib and peroneus brevis weaken before peroneus longus and posterior tib --> cavovarus
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Charcot Marie Tooth - foot Peroneus longus + posterior tib > peroneus brevis + anterior tib Plantarflexion of first ray --> Heel varus Initially flexible Then becomes fixed
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Charcot Marie Tooth - foot Coleman block test Tests flexibility of hind foot Allows first ray to drop down If hindfoot corrects to valgus Soft tissue +/- first ray osteotomy only Peroneal longus transfer to brevis, post tib to dorsum of foot, plantar fascia release If hindfoot doesn’t correct Have to do calcaneal osteotomy or fusion
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Charcot Marie Tooth - summary Diagnosis confirmed with DNA test CMT 1: chr 17, PMP 22 CMT X: x linked, connexin Ortho manifestations Feet Cavovarus since peroneus longus stays stronger longer than anterior tib If flexible (heel corrects on Coleman block), no calcaneal osteotomy or triple needed Hip: Late dysplasia Hand: Intrinsic wasting Spine: scoliosis
Slide 34-

Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
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Arthrogryposis Term used for variety of conditions characterized by: Decreased fetal movement Congenital joint stiffness Varying muscle weakness Amyoplasia, distal arthrogryposis, multiple pterygium syndrome, Larsen’s (flattened facies, multiple joint dislocations, cervical kyphosis, watch for late myelopathy) Symptom complex rather than disease AMC (arthrogryposis multiplex congenita, aka amyoplasia) Decrease in anterior horn cells Normal intelligence Sensation intact
Slide 36-

Arthrogryposis - amyoplasia Common deformities Hip: Considered teratologic, so Pavlik not indicated Previous controversy about relocation Most authors now recommend medial open reduction as infant (older tests, especially if detected in older patient, recommend obs) Knee: Flexion or extension contractures Correct knees before hips if ext Flexion deformities tend to recur over time despite rx
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Arthrogryposis - amyoplasia Common deformities cont’d Foot Rigid clubfoot or vertical talus For TEV, some authors report success with Ponseti method (prob won’t be tested) Treat initially with PMR Recurrence common Treat with bony procedure like talectomy or triple arthrodesis CVT requires surgery Spine Often C shaped, neuromuscular-esque Bracing ineffective
Slide 38-

Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
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Myelomeningocele Aka spina bifida Failure of neural tube to close Type of spinal dysraphism Vs caudal regression (sacral agenesis) Maternal diabetes Functional level = lowest functioning nerve root L4 key level (ambulatory potential): why? Can diagnosed prenatally Ultrasound Maternal serum alpha fetal protein (if levels detectable after week 14) Common comorbidities - kids benefit from multi-disciplinary team Arnold-Chiari malformation type II Bowel/bladder control issues Latex sensitivity/allergy (may present as anaphylaxis in OR on test)
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Myelomeningocele Incidence decreasing Prenatal screening Recognition of role of folic acid Why your Cheerios are fortified Most studies quote 60-100% reduction in incidence when pregnant women given folate USDA rec: 0.4 mg/day
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Myelomeningocele Detailed exam important at each visit Looking for change in function Increased UTIs Loss of level (muscle testing) or function Increased spasticity Sudden increase in spine curve Get MRI of entire spine (including lower brain stem) if any of above Likely increased hydrocephalus Vs tethered cord or hydromyelia Fractures Fairly common, especially ages 3-7 about knee and hip Present like infection: red, warm, swollen Rarely infection, but can be (probably won’t be on test) Treat with brief immobilization
Slide 42-

Myelomeningocele - ortho issues Spine Scoliosis and kyphosis Neuromuscular curve Thoracic level myelos most frequent Bracing not effective Need anterior and posterior fusion Why? For kyphosis, may need kyphectomy High complication rate Pseudoarthrosis Infection: 15-25%
Slide 43-

Myelomeningocele - ortho issues Hips Problems include Flexion contractures (thoracic and high lumbar) Muscle/capsular release Abduction contracture Ober-Yount release Adduction contracture Adductor release Paralytic hip dislocation Most likely at L3/L4 level: why? Previously controversial Now most authors agree to leave them out (good TSRH gait study) Exception: very low level sacral pt, otherwise normal
Slide 44-

Myelomeningocele - ortho issues Knee Flexion or extension deformity depending on level Soft tissue release as needed for functional gains Feet Deformity depends on level Rigid clubfeet, vertical talus, calcaneus feet Likely level that, if functioning, is cutoff between equinus vs calcaneus deformity? (in reality, not this simple) L5 Soft tissue releases/tendon transfers Avoid triple arthrodesis except in severe deformities in sensate feet
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Myelomeningocele - summary Folic acid prevention Sacral agenesis (on same spectrum): maternal diabetes Latex allergy = anaphylaxis (crashing patient) in surgery Change in function/scoli curve --> get MRI of entire spine --> increased hydrocephalus (no bueno, call neurosurg) or tethered cord Non-op limb that looks like it might have osteo = likely fracture Scoli surgery = go anterior and posterior Leave dislocated hips out (unless patient looks totally normal and you are told has sacral myelo)
Slide 46-

Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
Slide 47-

Marfan’s syndrome Clinically diverse group Very tall Long, thin limbs Long, thin fingers Ocular lens dislocation Cardiac anomalies Autosomal dominant Spontaneous mutation 15-30% of time Defect in fibrillin No good genetic test Diagnosis made by Ghent criteria Sponseller et al, JBJS 2010
Slide 48-

Marfan’s syndrome Orthopaedic manifestations Spine: Ghent criteria scoliosis 50% of patients Bracing usually not effective Spondylolisthesis Can have dural ectasia and meningocele (like NF) Hips: Significant acetabular protrusio Can cause pain and stiffness Generalized joint laxity Genu recurvatum Severe pes planus Stick with non-op rx
Slide 49-

Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
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Down’s syndrome Trisomy 21 Most common chromosomal abnormality Incidence increases with increasing maternal age Boo Very typical facies, hypoplastic middle phalanx of 5th finger Associated with Heart disease Mental retardation Endocrine disorders Hypothyroidism Diabetes Premature aging
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Down’s syndrome Ortho issues: General hypotonia and ligamentous laxity C-spine Atlanto-axial hypermobility/instability If ADI > 5mm, hypermobile Fuse if symptomatic or ADI >10 mm Special olympics screening controversial Avoid contact sports, diving, gymnastics if ADI >5mm
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Down’s syndrome Ortho issues cont’d Hip SCFE Check thyroid! Unstable/stable doesn’t apply They’ll walk on unstable slips Dislocation Not congenital Often late and dynamic Rx challenge Req OR, + likely osteotomy Knees Patellofemoral instability Very debilitating If symptomatic, realignment procedure If asymptomatic, detected late, and patient can extend knee, don’t operate
Slide 53-

Syndromes overview Based on 2005-2010 OITEs: Osteogenesis imperfecta Neurofibromatosis Charcot Marie Tooth Arthrogryposis Myelomeningocele Marfan’s Down’s Prader-Willi Beckwith-Wiedemann Ehler’s Danlos Gaucher’s Osteopetrosis Duchenne’s MD Will also discuss MPSs Loeys-Dietz Rett’s
Slide 54-

Prader-Willi Partial chromosome 15 deletion Example of genetic imprinting Copy from dad: Prader Willi Copy from mom: Angelman syndrome Floppy, hypotonic infant --> intellectually impaired, obese adult with insatiable appetite Ortho issues: growth retardation (in height), hip dysplasia, JIS
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Beckwith-Wiedemann syndrome On differential of hemihypertrophy Characterized by: Large tongue Omphalocele Organomegaly Exophthalmos Watch for Neonatal hypoglycemia (can be fatal if undetected) Intra-abdominal tumors 40% chance of malignancy Wilms, hepatoblastoma
Slide 56-

Ehler’s Danlos Autosomal dominant condition Multiple types Types I and II due to collagen V mutation Hyperextensible skin (tissue-paper skin) Wide, atrophic scars Hypermobile joints Frequent dislocations Can see DDH, clubfeet, scoliosis Soft tissue procedures usually fail “dumb” soft tissue
Slide 57-

Gaucher’s Disease Autosomal recessive Lysosomal storage disease Deficiency in beta-glucocerebrosidase Leads to accumulation of cerebrosides in cells of RES See: Hip AVN On differential of bilateral, symmetric Perthes Erlenmeyer’s flask distal femurs Severe bone pain: “Gaucher’s crises” hepatosplenomegaly
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Osteopetrosis “marble bone” disease Bone looks dense But is brittle “rugger jersey” spine Failure of osteoclastic resorption No ruffled border Mild form: AD Malignant (infantile) form: AR Medullary canal is obliterated Pancytopenia Can be life threatening in malignant form BMT Healing may be slow Coxa vara common deformity due to repetitive stress fractures
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Duchenne’s Muscular Dystrophy Most common muscular dystrophy Lack of dystrophin protein Stabilizes cell membrane cytoskeleton Steroids may help Diagnosis: genetic testing and muscle biopsy X-linked recessive What female can exhibit it? Turner’s: XO Insidious onset of weakness between ages 3 to 6 years Why I always do a Gower’s on any intoer or toe walker Proximal muscles affected before distal Calf pseudohypertrophy
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Duchenne’s Muscular Dystrophy Ortho issues: Feet: Ankle equinus contracture occurs first Then equinovarus as posterior tib continues to function Can transfer tendon to maintain walking ability Hip Abduction and flexion contractures Spine: scoliosis Develops in almost all patients, esp after stop walking (usually around age 10) Unrelenting progression No role for bracing Indications for surgery (posterior, to pelvis) Curve > 20-30 degrees Patient non-ambulatory Preferably before FVC is <35% age matched normals
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Mucopolysaccharidoses (MPSs) Group of proportionate dwarfisms Caused by hydrolase enzyme deficiency leading to accumulation of complex sugars See in urine 4 types Type I: Hurler’s Worst prognosis (“hurl” when you hear dx) AR Dermatan/heparan sulfate Type II: Hunter’s X-linked recessive (boys are hunters) Dermatan/heparan sulfate Type III: Sanfilippo’s AR Heparan sulfate Type IV: Morquio’s Most common AR Normal intelligence Keratan sulfate Numerous ortho issues C1-2 instability often requires decompression/fusion
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MPS - Morquio’s
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Last few… Loeys-Dietz: Can be confused for Marfan’s or Ehler’s Danlos Mutation in gene for TGF beta receptor Spine (C-spine, scoli) and foot (TEV) Rett’s: Progressive impairment in girls Develop normally until 6-18 months of age, then lose milestones Stereotaxic hand movements (“pill-rolling”) Neuromuscular scoliosis Friedrich’s ataxia: Spinocerebellar degenerative disease Abnormality of frataxin Wide-based gait CMT-like feet AIS-like scoliosis Klippel-Feil Low hairline, webbed neck, congenital fusion of cervical vertebrae Check for renal abnormalities
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That’s it!