|
Return
to Case
Osteopetrosis
AKA: Albers-Schönberg Disease =
Marble Bone Disease
-
Rare hereditary disorder
-
Defective osteoclast function with
failure of proper reabsorption produces
sclerotic bone
-
Structurally weak
Types
-
Infantile autosomal recessive type
-
Failure to thrive
-
Premature senility in facies
-
Dental caries
-
Anemia,
leukocytopenia, thrombocytopenia
-
Cranial nerve compression (optic
atrophy, deafness)
-
Hepatosplenomegaly (extramedullary
hematopoiesis)
-
Lymphadenopathy
-
Subarachnoid hemorrhage may occur (due
to thrombocytopenia)
-
May be associated with:
-
Renal tubular acidosis
-
Cerebral calcification
-
Prognosis: survival beyond middle age
is uncommon (death due to recurrent infection, massive hemorrhage,
terminal leukemia)
-
Benign adult autosomal dominant type
-
50% asymptomatic
-
Recurrent fractures
-
Mild anemia
-
Cranial nerve palsy (rarely)
-
Prognosis: normal
-
X-ray findings
-
Diffuse
osteosclerosis
-
Cortical thickening with medullary
encroachment
-
Erlenmeyer flask deformity =
clublike long bones due to lack of
tubulization + flaring of ends
-
Bone-within-bone appearance
-
"Sandwich"
vertebrae=alternating sclerotic + radiolucent transverse metaphyseal
lines (phalanges, iliac bones) indicate fluctuating course of
disease
-
Longitudinal metaphyseal striations
-
Mandible least involved
-
Complications:
-
Fractures (common because of brittle
bones) with abundant callus + normal healing
-
Crowding of marrow (myelophthisic
anemia + extramedullary hematopoiesis)
-
Frequently terminates in acute leukemia
-
Rx: bone marrow transplant
-
DDx:
-
Heavy metal poisoning
-
Melorheostosis (limited to one extremity)
-
Hypervitaminosis D
-
Pyknodysostosis
-
Fibrous dysplasia of skull / face
From Dahnert
|
