Pediatrics Section 4: Metabolic disease/Arthritides Flashcards Preview

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Flashcards in Pediatrics Section 4: Metabolic disease/Arthritides Deck (10)
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1
Q

Rickets

A
  • Deficiency of Calcium –> poorly defined zone of provisional calcification
  • Enlarged zone of hypertrophy
  • Short stature, varus angulated limbs, bone pain
  • Physeal cupping/widening
  • Looser lines
  • Rachitic rosary
2
Q

Osteogenesis Imperfecta

A
  • Defect in type I collagen (glycine substitution) - COLIA2 gene
  • Scoliosis, tooth defects, hearing defects
  • Blue sclera
  • Basilar invagination –> myelopathy, apnea, altered conciousness, ataxia
  • Bone does not remodel –> wormian bone –> fragile/brittle bone
  • Tx
    • Brace early
    • <2 yo same as normal children
    • >2 yo telescoping IM rods
    • Bisphosphonates –> may lead to banding in the metaphysis with high dose longer term use
  • 90% fit into type I or IV
    • I - blue sclera, hearing loss
    • IV - normal sclera, normal hearing
      • A - tooth involvment
      • B - no tooth involvment
3
Q

Idiopathic Juvenile Osteoporosis

A
  • Self limiting –> resolves within 2-4 years
  • Appears between 8-14 years
  • Osteopenia, growth arrest, bone pain
4
Q

Osteopetrosis

A
  • Failure of osteoclastic resorption –> dense bone (“marble bone”)
  • Thymus defect most likely
  • Loss of medullary canal –> anemia
  • Optic and occulomotor nerve encroachment –> possible blindness
  • Rugger jersy spine
  • Erlynmeyer flask deformity
  • Tx with bone marrow transplant may work
5
Q

Infantile Cortical Hyperostosis

Caffey Disease

A
  • 0-9 months
  • Follows febrile illness
  • Soft tissue swelling
  • Cortical thickening - Jaw and ulna MC
  • Benign and self limited
  • R/o trauma by single bone involvment
6
Q

Marfan Syndrome

A
  • Fibrillin-1 (FBN1) gen defect
  • Autosomal dominant
  • Arachnodactyly, dural ectasia
  • Acetabular protrusio
  • SUPERIOR lens dislocation
  • Bracing ineffective
7
Q

Elher-Danlos Syndrome

A
  • Defect in collagen V
  • Autosomal dominant
  • Hyperextensibility of skin (“cigarrette paper skin”)
  • Joint hypermobility and dislocation - Beighton-Horan scale
  • Kyphoscoliosis
8
Q

Homocystinuria

A
  • Insufficient cystathionine B-synthase enzyme –> error of methionine metabolism –> increased homocysteine
  • Autosomal recessive
  • Marfanoid habitus (except stiff joints)
  • INFERIOR lens dislocation
  • DX with homocysteine in the urine
  • TX with Vitamin B6 and diet poor in methionine
9
Q

Juvenile Idiopathic Arthritis

A
  • Persistent, non-infectious arthritis lasting 6 weeks to 3 months
  • Typically before age 4 years
  • Knee, hand, wrist MC
  • DX must have one of the following
      • RF - only 15% are positive
    1. Irridicyclitis –> biannual slit lamp exam
    2. Cervical spine involvment –> kyphosis, facet ankylosis, AA instability
    3. Pericarditis
    4. Tenosynovitis
    5. Intermittent fever
    6. Morning stiffness
10
Q

Alkalosing Spondylitis

A
  • Adolescent boys
  • Asymmetric lower extremity arthritis (large joint: ankle/knee)
  • Hip/back pain come later
  • Limitation of chest wall expansion - more sensetive that HLA-B27
  • + HLA-B27 - however it is + in 8% of normal white americans and 95% of Reiter syndrome patients
  • Symetric sacroilliac errosions
  • Bamboo spine
  • Tx with NSAIDS and PT