Case Report: Oestopetrosis Presenting with Hypocalcemic Seizure Early in the Neonatal Period
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- Category: Vol. 77, June 2009
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Case Report: Oestopetrosis Presenting with Hypocalcemic Seizure Early in the Neonatal Period, EBTESSAM EL-MELEGY and SARAR MOHAMAD
Abstract
Oetopetrosis is a genetic disease results from a defective bone resorption. The basic defect is thought to involve osteo-clast differentiation. Most of the manifestations are due to failure to remodel growing bones.
Case Report: A full term baby girl was born to Saudi consanguineous parents. Pregnancy and delivery were un-eventful. She presented on day 8 of life with generalized tonic clonic convulsions. Clinical examination was unremarkable. Investigations revealed serum calcium of 4.2mg/dl (normal 8.4-10.2mg/dl). Serum phosphorus, alkaline phosphatase, parathyroid hormone and vitamin D were normal. Seizure responded to calcium infusion. At one month of age she presented with poor feeding and pallor. Examination revealed hepatomegaly of 6 cm and splenomegaly of 4cm. Complete blood count showed Hb of 6g/dl (normal 11-14g/dl) and platelet of 47000/uL (normal 120000-400000/uL). Skeletal survey demonstrated markedly dense bones with effaced medullary spaces consistent with oestopetrosis. The patient was maintained on regular transfusion, oral calcium and oral vitamin D supplement. The ultimate treatment is bone marrow transplantation.
Conclusion: This case report demonstrated that oesto-petrosis can present with significant hypocalcaemia early in the neonatal period. The possibility of oestopetrosis may be considered in neonates with unexplained hypocalcaemia.