CURRENT ESSENTIALS PEDIATRICS - part 7 pptx

Chapter 18 Orthopedics 311 Torticollis ■ Essentials of Diagnosis • Unilateral contracture of the sternocleidomastoid muscle causes the chin to rotate away from the contracture and the head to tilt toward the contracture • Causes—diseases of the cervical spine, injury to the sternocleidomastoid during delivery, or intrauterine pressure • Sternocleidomastoid mass is often palpable. It is a fibrous trans- formation within the muscle, not tumor • Hip dysplasia associated in 20% of cases • Diagnosis is by physical examination, but magnetic resonance imaging (MRI) may be needed to completely evaluate ■ Differential Diagnosis • Arthrogryposis • Klippel-Feil syndrome • Cervical spine tumor or syrinx • Brain tumor • Rheumatoid arthritis—older children • Trauma and mild respiratory illness may precede onset • Unilateral flattened occiput from intrauterine pressure or back sleeping causes apparent torticollis when infant is supine • Motor weakness, cerebral palsy, dystonia, spasticity produce torticollis ■ Treatment • Passive stretching is usually effective <1 year • Surgical release after 1 year is effective in uncomplicated cases • Excision of the fibrous “tumor” is unnecessary ■ Pearl Infants with gastroesophageal reflux may assume a position of comfort known as Sandifer syndrome with neck extended and head tilted. Give an acid blocker to healthy children with torticollis to see if Sandifer syndrome is the cause. 18 312 Current Essentials: Pediatrics Arthrogryposis Multiplex Congenita ■ Essentials of Diagnosis • Congenital fibrous ankylosis of many joints—shoulders adducted, elbows extended, wrists flexed, fingers stiff, dislocated hips, knees extended, club feet, scoliosis • Usually bilateral involvement • Infants usually have normal mental and sensory development but severe physical disability • Variable inheritance—may be associated with other somatic abnormalities • Diagnosable by intrauterine ultrasound ■ Differential Diagnosis • Intrauterine pressure with unilateral decrease in fetal limb movement causes joint contractures • In utero abnormalities of muscle tone, muscle development (amy- oplasia), lower motor neuron or spinal cord function may cause multiple joint contractures • Intrauterine bands may cause contractures ■ Treatment • Passive mobilization early • Prolonged casting is contraindicated because of further stiffness • Surgical joint release, tendon transplant, capsulotomies, osteotomies sometimes needed ■ Pearl Fetal akinesia (lack of muscle movement) can also produce polyhy- dramnios, pulmonary hypoplasia, micrognathia, hypertelorism, short- ened umbilical cord depending on severity of the akinesia. 18 Chapter 18 Orthopedics 313 Marfan Syndrome ■ Essentials of Diagnosis • Connective tissue disorder—tall stature, long fingers and toes, hypermobile joints, scoliosis, high arched palate, pectus carina- tum, thoracic aortic aneurysm, mitral valve prolapse • Ocular abnormalities include subluxation of the lens, cataract, coloboma, megalocornea, strabismus, myopia, and nystagmus • Defect is in genes coding for fibrillin. One-third of cases are sporadic mutations, two-thirds are familial. Sex distribution equal • Diagnosis is usually clinical but testing shows ↓serum mucopro- teins, ↑urinary hydroxyproline excretion. Genetic testing available • Diagnosis is much more obvious as children grow. Tall stature is the most common reason for investigation ■ Differential Diagnosis • Homocystinuria—patients look marfanoid but urinary homocys- tine is elevated in homocystinuria • Familial tall stature • Ehlers-Danlos syndrome shares some findings ■ Treatment • Regular ophthalmologic evaluation and care • Regular orthopedic evaluation and care, especially to prevent scoliosis • Regular cardiac evaluation with serial echocardiograms. β-blockers may reduce the progression of aortic root dilation ■ Pearl The rate of mutation of the fibrillin gene appears to be related to pater- nal age. The older the father, the higher the mutation rate. 18 18 Klippel-Feil Syndrome ■ Essentials of Diagnosis • Early in utero failure of segmentation of some or all cervical vertebrae causes multiple bony defects—hemivertebrae, fused vertebrae, scoliosis, cervical rib, spina bifida • Short stiff neck, low hairline, low-set ears, deafness, web neck, high scapula • Structural and functional renal abnormalities • Gene inversion on long arm of chromosome 8. Increased risk in infants with fetal alcohol syndrome ■ Differential Diagnosis • VACTERL syndrome has many of the same characteristics • Sprengel deformity of the scapula causes similar short neck ■ Treatment • Many patients have no symptoms • Fusion of the cervical vertebrae causes neurologic symptoms with growth—tingling, numbness, paralysis of upper extremities • All patients require hearing evaluation • Renal, orthopedic, neurology, and sometimes cardiology spe- cialists should follow these children ■ Pearl Minor trauma may cause serious injury to the spinal cord in patients with Klippel-Feil syndrome. Spinal fusion can reduce this risk. 314 Current Essentials: Pediatrics Chapter 18 Orthopedics 315 Osteogenesis Imperfecta ■ Essentials of Diagnosis • Genetic connective tissue disease with recurrent bone fractures caused by mutations in COL IA1 and 2 genes encoding for type I procollagen • Fetal type has intrauterine and perinatal fractures, blue sclerae, thin skin, joint hypermobility, otosclerosis, hearing loss, hypoplastic teeth, wormian bones, normal intelligence • Later presentation (tarda type) is less severe • Other forms fatal due to severe skeletal deformities and respiratory insufficiency due to thoracic constriction • Intrauterine ultrasound or chorionic villus sampling allow prenatal diagnosis and evaluation of severity ■ Differential Diagnosis • Child abuse • Osteopenia secondary to rickets, metabolic renal disease, renal insufficiency, and nutritional deficiencies all promote easy fractures ■ Treatment • Avoidance of injury, regular physical therapy • Biphosphonates may be helpful • Bone marrow transplant, growth hormone, gene therapy are exper- imental ■ Pearl Osteogenesis imperfecta is a rare disorder. Multiple bone fractures in different stages of healing are a red flag for child abuse first and osteogenesis imperfecta second. 18 316 Current Essentials: Pediatrics Achondroplasia ■ Essentials of Diagnosis • The most common form of short-limbed dwarfism. Autosomal dominant. 80% are new mutations on chromosome 4 • Caused by delayed ossification of cartilage • Short upper arms and thighs, waddling gait, bowed legs, joint limitation, short fingers of equal length, frontal bossing, hydro- cephalus, depressed nasal bridge, lumbar lordosis • Thoracic and skull deformities cause respiratory insufficiency and recurrent otitis • Intelligence normal • Narrowed spinal canal and foramen magnum may lead to pro- gressive spinal cord compression with sudden death in infancy or paraplegia in older individuals • Phenotypic features are nearly diagnostic, even at birth. Prenatal diagnosis is available ■ Differential Diagnosis • Other forms of dwarfism and nonsyndromatic short stature ■ Treatment • No specific therapy • Patients should be monitored for foramen magnum compression • Growth hormone therapy and limb lengthening surgery have been used with some success to increase final height • Recurrent otitis should be treated aggressively to prevent otosclerosis and hearing loss ■ Pearl Mutations in fibroblast growth factor receptor gene are involved in a number of syndromes with skeletal abnormalities. The mechanism by which the abnormal growth factor receptor protein produces achondroplasia is not yet known. 18 Chapter 18 Orthopedics 317 Scoliosis ■ Essentials of Diagnosis • Lateral curvature of the spine with rotation of the involved vertebrae. • Idiopathic scoliosis four to five times more common in girls than boys. Onset 8–10 years • Convexity of the thoracic curve to the right is the most common deformity in idiopathic scoliosis • Screen by noting asymmetry of rib height or paravertebral muscles while patient bent at 90º • Spine x-rays in the standing position useful for diagnosis, stag- ing, and planning therapy ■ Differential Diagnosis • Scoliosis associated with neurofibromatosis, Marfan syndrome, cerebral palsy, muscular dystrophies, polio, myelodysplasia, chronic vertebral osteomyelitis • Congenital vertebral anomalies are the cause of scoliosis in 5–7% of patients • Transient scoliosis may result from splinting of the chest during acute pneumonia or other lung disease ■ Treatment • Treatment determined by magnitude of curve, skeletal maturity, and risk of progression • Curvature <20° usually requires no treatment • Curvature 20°–40° treated by bracing • Curvature >40° usually resistant to bracing and may require spinal fusion • Curvature >60° causes poor adult pulmonary function ■ Pearl Idiopathic scoliosis of girls is usually convex to the right and rarely causes pain. The presence of pain or a left convex curvature should dictate careful investigation for other disorders such as bone or spinal cord tumor. 18 318 Current Essentials: Pediatrics Slipped Capital Femoral Epiphysis ■ Essentials of Diagnosis • Posterior, inferior displacement of the proximal femoral epiphysis with disruption of the proximal femoral growth plate • May occur through weakness of the perichondrial ring stabiliz- ing the epiphysis during adolescent growth spurt • 30% bilateral disease • Most common in obese adolescent males. Other risk factors are hypothyroidism, panhypopituitarism, growth hormone therapy • Often becomes symptomatic after a fall, hip trauma, or bending over • Symptoms of vague pain in hip, knee, groin, or thigh with or without limp • Limitation of internal rotation on physical examination • Lateral hip radiographs show posterior and inferior slippage of the proximal epiphysis ■ Differential Diagnosis • Renal osteodystrophy or other metabolic bone disease • Lower spine or disc disease causing sciatic pain • Bone tumor of the proximal femur may cause hip pain ■ Treatment • Surgical fixation similar to that used in fractures of the femoral neck • Forceful reduction should be avoided. It increases the risk of avascular necrosis of the femoral head (AVN) • Long-term problems with hip arthritis occur with or without AVN ■ Pearl An obese adolescent male with knee pain may actually have slipped capital femoral epiphysis with referred pain to the knee. 18 Chapter 18 Orthopedics 319 Genu Varum/Genu Valgum ■ Essentials of Diagnosis • Genu varum (bowleg) is normal up to 2 years • Genu valgum (knock knee) is normal in children from 2 to 8 years • Persistent bowleg, increasing bowleg, unilateral bowing beyond age 2 should be evaluated • Knock knee associated with short stature should be evaluated • Monitor bowleg by measuring the inter-knee distance at every well-child visit ■ Differential Diagnosis • Bowleg may be associated with internal tibial torsion, Blount disease (proximal tibial epiphysial dysplasia), metaphysical chon- drodysplasia, achondroplasia, nutritional or hypophosphatemic rickets, lead or fluoride intoxication • Knock knee >age 8 associated with obesity • Asymmetric bone growth following trauma to the growth plate may resemble either knock knees or bowleg depending on site of injury ■ Treatment • Most bowleg <3 years or knock knee <8 years will resolve spontaneously • Night splints, internal or external augmentation of the heel may be useful • Severe bowleg or knock knee may respond to bracing or even osteotomy, especially when tibial torsion is the primary cause ■ Pearl There is such confusion about the closely related terms genu valgum and genu varum (or is it genu varus and genu valgus?) that many prefer the clarity of good old “bowleg” and “knock knee.” The terms may sound insensitive but at least you don’t have to know Latin to understand what the problem is! 18 320 Current Essentials: Pediatrics Tibial Torsion ■ Essentials of Diagnosis • In-toeing is common in infants and is caused by tibial torsion of about 20° which decreases gradually by the age of walking • Measure the degree of tibial torsion by measuring the angle between a line from second toe to midheel and a line along the length of the thigh with knee and ankle both flexed 90° ■ Differential Diagnosis • Associated with excess intrauterine pressure, eg, macrosomic infants of diabetic mothers • Metatarsus adductus causes curvature of the foot which looks like tibial torsion • Femoral anteversion produces toeing in beyond age 2–3 years • This condition shouldn’t be mistaken for club foot but sometimes is ■ Treatment • Most tibial torsion requires no therapy • Discourage belly sleeping with feet turned in • Tibial torsion >15° after age 7–10 years may require tibial osteotomy • Braces or splints to promote external rotation are sometimes used ■ Pearl Neither putting a toddler’s shoes on backwards nor using the old Denis- Browne splint to keep the feet at a 45° angle outward are proven to be better than waiting for natural resolution in most infants. 18 [...]... aseptic necrosis or long-term arthritis in the hip 324 Current Essentials: Pediatrics Avascular Necrosis (AVN) of the Proximal Femur (Legg-Calvé-Perthes Disease) ■ Essentials of Diagnosis Highest incidence in 4–8-year-old males Persistent pain, limp, limitation of movement Joint aspirate normal Laboratory studies normal Systemic symptoms absent • X-ray shows joint effusion early Later findings are patchy... seen on x-ray Resolves spontaneously in weeks or months Steroidal and nonsteroidal medications for symptom relief Occasionally there are long-term abnormalities of bone growth and deformity requiring surgical correction Pearl For unknown reasons, the frequency of sporadic cases is decreasing Familial cases are now relatively more likely 18 328 Current Essentials: Pediatrics Spondylolysis ■ Essentials. .. Pearl The “Standardized Assessment of Concussion (SAC)” is a 5-minute clinical screening instrument that can be used by trained nonmedical sports supervisors to assess the level of injury of a participant An SAC kit includes a training manual and can be obtained online 332 Current Essentials: Pediatrics Radiculopathy (Burners and Stingers) ■ Essentials of Diagnosis • • • • • ■ Cervical and brachial plexopathy... airway pressure (CPAP) or high-flow nasal cannula is effective in severe cases 20 • Intubation and mechanical ventilation is a last resort in resistant cases • • ■ Pearl Prematurity is a risk factor for sudden infant death syndrome (SIDS) However, apnea and bradycardia in the preterm infant are not additional risk factors 344 Current Essentials: Pediatrics Birth Trauma ■ Essentials of Diagnosis • • •... meconium aspiration (edema, surfactant deficiency, pulmonary hypertension, decreased cardiac output) are caused by hypoxic-ischemic injury to the lungs, not to airway obstruction from meconium 20 346 Current Essentials: Pediatrics Hyaline Membrane Disease/ Respiratory Distress Syndrome (RDS) ■ Essentials of Diagnosis Most common cause of respiratory distress in preterm infants Caused by insufficient pulmonary... any joint in the body The muscles of the rotator cuff hold the humoral head in the socket They include the subscapularis, supraspinatus, infraspinatus, and teres minor 19 334 Current Essentials: Pediatrics Anterior Knee Pain ■ Essentials of Diagnosis • • • • • ■ Differential Diagnosis • • • • • • • ■ Most common cause is “patellofemoral overuse” syndrome in runners causing pain under patella and over... • ■ Pearl Muscular rehabilitation should start immediately after injury with passive range of motion exercises 19 336 Current Essentials: Pediatrics Posterior Cruciate Ligament (PCL) Injury ■ Essentials of Diagnosis • • • • • • ■ Differential Diagnosis • • • ■ 2 -part ligament between medial femoral condyle and posterior tibial plateau prevents posterior tibial subluxation Injury caused by forced hyperextension... pain-free full range of motion • • • ■ Pearl Functional bracing may be required even after the athlete returns to competition in order to permit complete ligament healing 19 338 Current Essentials: Pediatrics Elbow Pain ■ Essentials of diagnosis Medial—medial epicondylitis secondary to overuse and valgus stress, tendonitis, ulnar collateral ligament injury, ulnar neuritis, apophysitis, and fracture... development of myositis ossificans • ■ Pearl A transverse fracture of the femoral neck almost always requires surgical fixation to prevent avascular necrosis of the femoral head 340 Current Essentials: Pediatrics Foot Pain ■ Essentials of Diagnosis • • • • • • ■ Differential Diagnosis • • • • • • ■ The ankle has 3 lateral ligaments (anterior and posterior talofibular, and calcaneofibular) and a medial deltoid... nonsteroidal anti-inflammatory agents Usually self-limited but may recur Monitor by x-ray for slipped capital femoral epiphysis Pearl Aseptic necrosis of the femoral head occurs in 1–2% of patients with 18 transient tenosynovitis of the hip Coxa magna (asymptomatic enlargement of the femoral head and broadening of the femoral neck) occurs in 32.1% and may be a precursor of aseptic necrosis or long-term arthritis . aseptic necrosis or long-term arthritis in the hip. 18 324 Current Essentials: Pediatrics Avascular Necrosis (AVN) of the Proximal Femur (Legg-Calvé-Perthes Disease) ■ Essentials of Diagnosis •. and osteogenesis imperfecta second. 18 316 Current Essentials: Pediatrics Achondroplasia ■ Essentials of Diagnosis • The most common form of short-limbed dwarfism. Autosomal dominant. 80% are. have to know Latin to understand what the problem is! 18 320 Current Essentials: Pediatrics Tibial Torsion ■ Essentials of Diagnosis • In-toeing is common in infants and is caused by tibial torsion