A case of osteogenesis imperfecta type II, a diagnosis made almost too late in a resource poor setting

Background: Osteogenesis imperfecta (OI) is a rare autosomal dominant disorder of type I collagen (COL I), characterised by excessive bone fragility with low bone mineral density (BMD). Type II is associated with extreme bone fragility leading to intrauterine or early infant death.Objective: To highlight a case of OI type II and the need for an early detection of this rare bone disorder through non invasive prenatal diagnosis.Case Report: We report a case of a full term male neonate with progressive respiratory distress from birth. He was seen in children’s emergency room two hours after vaginal delivery in a peripheral clinic. Pregnancy and delivery were uneventful and the baby was born to non-consanguineous, monogamous parents. On examination he was dyspnoeic, cyanosed with malformed and fractured upper and lower limbs. A working diagnosis of osteogenesis imperfecta type II was made and baby was placed on oxygen via face mask. However respiratory distress worsened and baby died at 6 days of life.Conclusion: Antenatal ultrasonography might have led to diagnosis in utero. If detected prenatally a more appropriate management can be instituted to reduce morbidity and mortality

Clinical and Socio-Demographic Characteristic of Children who receive Emergency Blood Transfusion in Orlu, Imo State Nigeria

Background: Severe anaemia requiring urgent blood transfusionis a major cause of morbidity and mortality among children in the developing world. This often tasks the blood transfusion services of any typical tropical leading to transfusion of blood obtained from private laboratories whose services are often questionable. Under these circumstances the children are exposed to an increased risk of HIV and other blood borne infections.Aims and Objective: To determine the clinical and sociodemographiccharacteristics of children who receive urgent blood transfusion in Orli, Imo State, Nigeria.Methodology: This is a retrospective review of records of 53 children who received emergency blood transfusion during the period 1st June 2006, to December 31st 2007 at the Children’s emergencyward of the Imo State UniversityTeaching Hospital, Orlu,Nigeria.Results: Out of the 63 patients who were admitted within the period under review, 53(8.4%) received urgent blood transfusion. More than 80% of these patients were below 5 years old. There was no sex predilection. The patients from the medium social class presented with severe anaemia more frequently than other social classes. The need for urgent blood transfusion correlated significantly with medium social class. Malaria was the commonest case of severe anaemia requiring urgent bloodtransfusion either singly (52.8%) or in combination with other disease conditions (24.5%).Conclusion: Severe anaemia associated with acute malaria is a major cause ofmorbidity and mortality in children especially in those less than 5 years old. The need for urgent blood transfusion correlated significantly with being from a medium social class family.Niger Med J. Vol. 49, No.3, July– Sept, 2008: 67 – 69.Keywords: Severe anaemia, emergency blood transfusion, children