Osteopetrosis

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Osteopetrosis

Musculoskeletal system

Pediatric musculoskeletal conditions

Radial head subluxation (Nursemaid elbow)

Developmental dysplasia of the hip

Legg-Calve-Perthes disease

Slipped capital femoral epiphysis

Transient synovitis

Osgood-Schlatter disease (traction apophysitis)

Musculoskeletal injuries and trauma

Rotator cuff tear

Dislocated shoulder

Radial head subluxation (Nursemaid elbow)

Winged scapula

Thoracic outlet syndrome

Carpal tunnel syndrome

Ulnar claw

Erb-Duchenne palsy

Klumpke paralysis

Iliotibial band syndrome

Unhappy triad

Anterior cruciate ligament injury

Patellar tendon rupture

Meniscus tear

Patellofemoral pain syndrome

Sprained ankle

Achilles tendon rupture

Spondylolysis

Spondylolisthesis

Degenerative disc disease

Spinal disc herniation

Sciatica

Compartment syndrome

Rhabdomyolysis

Bone disorders

Osteogenesis imperfecta

Craniosynostosis

Pectus excavatum

Arthrogryposis

Genu valgum

Genu varum

Pigeon toe

Flat feet

Club foot

Cleidocranial dysplasia

Achondroplasia

Osteomyelitis

Bone tumors

Osteochondroma

Chondrosarcoma

Osteoporosis

Osteomalacia and rickets

Osteopetrosis

Paget disease of bone

Osteosclerosis

Lordosis, kyphosis, and scoliosis

Joint disorders

Osteoarthritis

Spondylosis

Spinal stenosis

Rheumatoid arthritis

Juvenile idiopathic arthritis

Gout

Calcium pyrophosphate deposition disease (pseudogout)

Psoriatic arthritis

Ankylosing spondylitis

Reactive arthritis

Spondylitis

Septic arthritis

Bursitis

Baker cyst

Muscular disorders

Muscular dystrophy

Polymyositis

Dermatomyositis

Inclusion body myopathy

Polymyalgia rheumatica

Fibromyalgia

Rhabdomyosarcoma

Neuromuscular junction disorders

Myasthenia gravis

Lambert-Eaton myasthenic syndrome

Other autoimmune disorders

Sjogren syndrome

Systemic lupus erythematosus

Mixed connective tissue disease

Antiphospholipid syndrome

Raynaud phenomenon

Scleroderma

Limited systemic sclerosis (CREST syndrome)

Musculoskeletal system pathology review

Back pain: Pathology review

Rheumatoid arthritis and osteoarthritis: Pathology review

Seronegative and septic arthritis: Pathology review

Gout and pseudogout: Pathology review

Systemic lupus erythematosus (SLE): Pathology review

Scleroderma: Pathology review

Sjogren syndrome: Pathology review

Bone disorders: Pathology review

Bone tumors: Pathology review

Myalgias and myositis: Pathology review

Neuromuscular junction disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Assessments

Osteopetrosis

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USMLE® Step 1 questions

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High Yield Notes

16 pages

Flashcards

Osteopetrosis

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Questions

USMLE® Step 1 style questions USMLE

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A 3-year-old girl is brought to the pediatrician for evaluation of decreased hearing in the left ear. The symptoms started 2 months ago and have progressively worsened. Her parents state she has difficulty hearing voices and sounds coming from her left. Past medical history is notable for a femoral fracture, which she sustained after falling from standing-height. There is no history of similar symptoms in her family members. The patient’s older sister was recently diagnosed with multiple sclerosis at the age of 20. Temperature is 37.3°C (99.1°F), blood pressure is 110/65 mmHg, and pulse is 87/min. The patient is below the 5th percentile for height and weight. Physical examination is notable for hepatosplenomegaly and sensorineural hearing loss in the left ear. Genetic testing reveals a homozygous mutation in the carbonic anhydrase type II gene (CA2). Which of the additional findings will most likely be present on laboratory testing?  

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Bone marrow transplant

osteopetrosis p. 473

Cranial nerve palsies

osteopetrosis p. 473

Osteoclasts p. 473

osteopetrosis p. 473

Osteopetrosis p. 473, 473

Pancytopenia p. 429

osteopetrosis and p. 473

Summary

Osteopetrosis, literally means "stone bone". It is an extremely rare genetic disorder whereby the bones harden and become denser. Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal.

People with osteopetrosis may present with impaired growth, frequent osteomyelitis (bone infections), vision and hearing impairment due to scleroses of skull bone and cranial nerve impingement or compressions, and neurological problems, such as weakness or numbness in the arms and legs. Treatment may include medications to increase bone density, surgery to remove bone, or to correct problems related to compression and neurovascular impingement.

Elsevier

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