OSTEOPETROSIS - A SURVEY OF 17 CASES
Abstract
This is a retrospective survey of 17 children with osteopetrosis admitted in paediatrics ward from 1990 to 1995. Their clinical data, radiographs. laboratory data c£ histories were analyzed. All of them were male with age range from 1 month to 5 years. 80% of patients had a history of parental consanguinity. All of them had moderate to severe anaemia and failure to thrive as their presenting symptoms. Other predominant associated features were stuffy nose with depressed nasal bridge (95%), hepatosplenomegaly (90%) and increase in size of head (80%). Neurological complications such as visual loss (80%) and deafness (40%:) were also observed. Not a single fracture was observed. The diagnosis of osteopetrosis was made by chance, radiologically. Treatment in all patients was symptomatic. No curative treatment was available. Mortality was high due to repeated infections and bleeding. The possibility of a new subtype of malignant recessive osteopetrosis is discussed.References
Shapiro F. Osteopetrosis. Current clinical considerations.
Clin Orthop, Sep (294) 1993; 34-44.
Cook PF & Moore SG. Case report 746:
Osteopetrosis. Skeletal Radiol, 1992; 21(6): 396-
Colonia AM, Chaimberg CG, Yoshinari NH, et al.
Osteopetrosis: report of 2 cases and review of the
literature. Rev Hosp Clin Fac Med Sao Paulo, SepOct
; 48(5): 242-7.
Bejaoui M, Baraket M, Lakhoua R, et al.
Recessive osteopetrosis. Identification of a form
of medium severity. Arch Fr Pediatr, Aug-Sep
; 49(7): 627-31.
Dahl N, Holmgren G, Holmberg S & Ersmark S.
Fracture patterns in malignant osteopetrosis
(Albers - Schonberg disease). Arch Orth Trauma
Surg, 1992; 111(2): 121-3.
Helfrich MH, Aronson DC, Everts V, et al.
Morphologic features of bone in human osteopetrosis.
Bone, 1991; 12(6): 411-9.
Bollerslev J, Marks SC Jr, Pockwinse S, et al.
Ultrastructural investigations of bone resorptive
cells in two types of autosomal dominant
osteopetrosis. Bone, Nov-Dec 1993; 14(6): 865-9.
Gerritsen EJ, Vossen JM, Van-Loo IH, et al.
Autosomal recessive osteopetrosis: variability of
findings at diagnosis and during the natural
course. Pediatrics, Feb 1994; 93(2): 247-53.
Schneider GB, Relfson M & Langman CB. Effects
of 1,25-dihydroxyvitamin D3 on bone resorption
and natural immunity in osteopetrotic (ia) rats. J
Bone Miner Res, Apr 1994; 9(4): 585-91.
Key LL Jr & Ries WL. Osteopetrosis. The
pharmaco-physiologic basis of therapy. Clin
Orthop, Sep (294) 1993; 85-9.
Philippart C, Tzehoval E, Moricard Y, et al.
Immune cell defects affect bone remodeling in
osteopetrotic op/op mice. Bone Miner, Dec 1993;
(3): 317-32.
Abdel-Al YK, Shabani IS, Lubani MM, et al.
Autosomal recessive osteopetrosis in Arab
children. Ann Trop Pediatr, 1994; 14(1): 59- 64.
Sonta-Jakimczyk D & Gawlicki W. Osteopetrosis
in a 16-year-old boy. Wiad Lek, Jul 1993; 46(13-
: 528-30.
el-Tawil T & Stoker DJ. Benign osteopetrosis: a
review of 42 cases showing two different patterns.
Skeletal Radiol, Nov 1993: 22(8): 587-93.
Bollerslev J & Mosekilde L. Autosomal dominant
osteopetrosis. Clin Orthop, Sep (294) 1993; 45-51.
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