Osteopetrosis - Pediatrics - Orthobullets.

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Osteopetrosis

Author:
Jason McKean

Topic updated on
07/20/14

11:50am

Introduction
A metabolic bone disease caused bydefective osteoclastic resorptionof
immature bone
Pathophysiology
inability to cause acidification in the clear zone and therefore
preventing bone resorption
leads to dense bone and obliterated medullary canal
may be linked to a defect in the thymus
Genetics
see classification
Associated conditions
cranial nerve palsies
from overgrowth of skull foramina
optic > auditory > trigeminal > facial
osteomyelitis
lack of marrow vascularity and impaired WBC function
long bone fractures (tension failure)
coxa vara
from femoral neck fracture nonunion or repeated stress fractures
Prognosis

autosomal recessive is lethal and often causes death in infancy

autosomal dominant is compatible with life but associated with morbidity (see below)
Classification
Genetic Forms
Autosomal Recessive Form
(AR)

Infantile or "malignant" form

Fatal in the first few yearsof life if untreated
Mapped to chromosome 11q13

Autosomal Dominant Form

(AD)

Known as Albers-Schonberg disease

Mutations causing deactivation in 3 genes have been found:
1. carbonic anhydrase II
2. alpha 3 subunit of vacuolar proton pump
3. chloride channel 7

Presentation
Autosomal recessive form
symptoms
frequent fractures
progressive deafness and blindness
severe anemia(caused by encroachment of bone on marrow) beginning in early
infancy or in utero
physical exam
macrocephaly
hepatosplenomegaly (caused by compensatory extramedullary hematopoiesis)
dental abscesses and osteomyelitis of the mandible
Autosomal dominant form
symptoms
often not discovered until adulthood

http://www.orthobullets.com/pediatrics/4103/osteopetrosis[07/10/2014 11:25:03]

Osteopetrosis - Pediatrics - Orthobullets.com

may present with pathologic fracture

anemia (fatigue)
physical exam
generalized osteosclerosis
cranial nerve palsy
Imaging
Radiographs
recommended views
AP and lateral of bone of interest
findings
"erlenmeyer flask" proximal humerus and distal femur
"rugger jersey spine" with very dense bone
loss of medullary canal "bone within a bone" appearance
block femoral metaphysis
Studies
Histology
see defective osteoclasts
osteoclastslack ruffled border and clear zone
islands of calcified cartilage within mature trabeculae
Treatment
Nonoperative
high dose calcitriol (1,25 dihydroxy vitamin D),bone marrow transplant
indications
autosomal recessive (infantile-malignant) form
interferon gamma-1beta
indications
autosomal dominant form

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Qbank (6 Questions)
Question: 11

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(OBQ12.58)
Which of the following most accurately describes the cause of osteopetrosis?

Review Topic
1.
2.
3.

Decreased expression of type I collagen

Decreased mineralization of osteoid matrix
Loss-of-function of GS alpha protein gene

4.
5.

Loss-of-function of carbonic anhydrase II gene

Mutation of FGFR3

PREFERRED RESPONSE

Posts
The molecular understanding of osteoclast differentiation.

http://www.orthobullets.com/pediatrics/4103/osteopetrosis[07/10/2014 11:25:03]

2/2/2014