ADULT ONSET OSTEOPETROSIS (ALBERS SCHONBERG DISEASE) - A CASE REPORT
Abstract
Abstract :
Osteopetrosis is a rare genetic disease
that occurs due to defective bone modelling,
with an approximate incidence of 1
in 100,000 to 1 in 500,000 adults as
quoted in literature. The underlying pathology
is an impaired function of osteoclasts
and their role in bone resorption. A
24 year old male presented with severe
chronic anaemia, pancytopenia and
hepatosplenomegaly with history of receiving
recurrent blood transfusions.
Laboratory investigations revealed normocytic
hypochromic anaemia. The bone
marrow examination showed a hypocellular
picture with fibrosis. Radiologic examination
showed presence of sclerosis
of the base of the skull, generalised sclerosis
of the pelvis and thickened lower
ends of femur and tibia. It was diagnosed
as adult onset benign form of autosomal
dominant osteopetrosis. We report this
case in view of its rare incidence.
Keyword :Osteopetrosis, anemia, osteoclast,
sclerosis, pathological fracture.
Full Text:
PDFReferences
Albers-Schoenberg H. Rontgenbilder
einer seltenen Knochenerkrankung.
MMW 1904; 51:365-
Gustav Konrad von Schulthess,
Ch. L. Zollikofer. Musculoskeletal
diseases: diagnostic imaging and
interventional techniques. 2005.
Kumar V, Abbas AK, Fausto N,
Aster JC. Robbins and Cotran
Pathologic Basis of Disease. Saunders
Elsevier; 8th Edition, 2010.
Matayoshi A, Brown C, DiPersio JF, et
al: Human blood-mobilized hematopoietic
precursors differentiate into osteoclasts
in the absence of stromal cells.
Proc Natl Acad Sci U S A 93:10785,
Frisch BJ, Porter RL, Calvi LM: Hematopoietic
niche and bone meet. Curr Opin
Support Palliat Care 2:211, 2008.
Edwards CM, Mundy GR: Eph receptors
and ephrin signaling pathways: a
role in bone homeostasis. Int J Med Sci
:263, 2008.
Askmyr MK, Fasth A, Richter J: Towards
a better understanding and new
therapeutics of osteopetrosis. Br J
Haematol 140:597, 2008.
Fauci AS, Kasper DL, Longo DL,
Braunwald E, Hauser SL, Jameson JL,
Loscalzo J. Harrison’s Principles of Internal
Medicine. 18th Edition, 2012.
Kemp WL, Burns BK and Brown TG.
Pathology: The Big Picture. 1st Edition,
Beighton P, Hamersma H, Cremin
BJ. Osteopetrosis in South Africa. The
benign, lethal andintermediate forms. S
Afr Med J. Apr 21 1979;55(17): 659-65.
Zawisch C. Arch Path. 1947;43:55.
Refbacks
- There are currently no refbacks.
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
An initiative of The Tamil Nadu Dr M.G.R. Medical University