About osteopetrosis

1. Osteopetrosis
Synonyms include Albers-Schönberg
disease, osteosclerosis, osteopetrosis generalisata, osteosclerosis
generalisata, marble bones, and chalk bones.
DR MADAN's Slide
Dr MADAN MOHAN, Consultant, Orthopaedics, KIMS,
Trivandrum

2. •Lack of resorption of normal primitive
osteochondrous tissue.
•The persistence of this tissue inhibits the
formation of normal mature adult bone
with a medullary canal containing
marrow tissue
DR MADAN's Slide

3. Clinical Types
(a)a benign heterogenous form that is autosomal
dominant,
(b)a severe malignant form that is autosomal
recessive,
(c)an intermediate recessive type, and
(d)a recessive type with tubular acidosis (also known
as carbonic anhydrase II deficiency syndrome)
DR MADAN's Slide

4. Clinical Features
•The clinical picture is one of severe anemia,
hepatosplenomegaly, lymphadenopathy,
thrombocytopenia, and failure to thrive.
•The dense, but extremely brittle, bones fracture
easily.
•Involvement of the cranium may lead to optic
nerve atrophy with blindness or other cranial
nerve defects. DR MADAN's Slide

5. Clinical Features
•The most frequent causes of death are
massive hemorrhage and recurrent
infection.
•Leukemia and sarcoma are known
sequelae.
DR MADAN's Slide

6. FLARED METAPHYSIS
(ERLENMEYER FLASK DEFORMITY).
Distal femur has uniformly
dense appearance. Failure of
remodeling produces flared
metaphyses.
DR MADAN's Slide

7. Radiological Features
There is generalized
sclerosis of the
skeleton, and there
may be a
homogeneous
appearance of
increased density,
without trabeculation,
and little or no
differentiation
between cortical and
medullary regions
DR MADAN's Slide

8. Radiological Features
There are striations
producing a bone
within a bone
appearance, also
referred to as
endobones.
These represent
fetal vestiges and
contain embryonic
strata that are
normally removed
DR MADAN's Slide

9. Radiological Features
Characteristically,
the ilium
demonstrates
multiple, dense
curved lines
paralleling the iliac
crest
DR MADAN's Slide

10. Radiological Features
The vertebrae may be
uniformly dense or,
more commonly,
there are dense bands
adjacent to the
endplates, with a
more normal
appearing midbody—
the sandwich
vertebra
DR MADAN's Slide

11. Differential diagnosis
includes idiopathic
hypercalcemia and
heavy-metal poisoning.
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