Oestopetrosis presenting with hypocalcemic seizure early in the neonatal period

Oetopetrosis is a genetic disease results from a defective bone resorption. The basic defect is thought to involve osteoclast differentiation. Most of the manifestations are due to failure to remodel growing bones. A full term baby girl was born to Saudi consanguineous parents. Pregnancy and delivery were uneventful. 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 8.4-10.2 mg/di]. Serum phosphorus, alkaline phosphatase, C pairathyroid hormone and vitamin D were normal. Seizure s 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 4 cm. Complete blood count showed Hb of 6g/dl [normal 11-14 g/dl] and platelet of 47000 /uL [normal 120000-400000 IuL]. Skeletal survey demonstrated markedly dense bones with effaced of medullary spaces consistent with oestopetrosis. The patients was maintained on regular transfusion, oral calcium and oral vitamin ID supplement. The ultimate treaiment is bone marrow transplantation. 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

Menke's disease presenting with subdural fluid collection and fractures mimicking non-accidental injury

Menkes disease is a rare X-linked disorder resulting from a defect in the copper metabolism. Clinical features include seizure, developmental delay and hair changes. Fracture with callus formation is not uncommon in Menkes disease. Diagnosis is often difficult to establish early in childhood. To report a case of Menkes disease who had subdural effusion and radiological evidence of previous fracture niimicking non-accidental injury. A male infant born to consanguineous parents. He developed intractable seizures at 6 weeks. Clinical examination revealed macrocephaly, gray iris, absent eyebrows, divergent squint, sparse, thin. hypo pigmented, and kinky hair. MRI brain showed massive bilateral subdural fluid collection. Skeletal survey revealed perosteal reaction and callus formation with evidence of old fracture of the left and right humerus. Family and social history disputed child abuse. Serum copper and cerloplasmin were persistently low. Menkes disease maybe difficult to differentiate from Non-accidental injury especially when subdural effusion and fractures are present. High index of suspicion is needed to out rule Menlces disease