Osteogenesis imperfecta: a case report

Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones caused by mutations in collagen. Diagnosis is mainly based on the clinical features of the disorder. We report a late preterm a male neonate born to a 20 years old primigravida. He had clinical features of a type II OI and severe birth asphyxia.

Red cell distribution width (RDW) in the diagnosis of iron deficiency with microcytic hypochromic anemia.

OBJECTIVE: To study the utility of red cell distribution width (RDW) in the diagnosis of iron deficiency among children with microcytic hypochromic anemia. METHODS: 151 children (6 months-12 years) with microcytic (MCV<75 fl) anemia were classified into iron deficient (IDA) and non-iron deficient anemia (non-IDA) on the basis of serum ferritin and total iron binding capacity (TIBC). RDW values were obtained on an automated hematology analyzer. Receiver operator curves (ROC) were constructed and the utility of RDW in diagnosis of iron deficiency was studied. RESULTS: The mean RDW value was 18.37+/-2.22% in IDA group (97 children) compared to 16.55+/-1.51 % in the non-IDA group (54 children) (p<0.0001, unpaired t test). In IDA group, the mean RDW value was 16.60+/-1.78%, 17.95+/-1.91% and 20.55+/-1.32% among mild, moderate and severely anemic children (p<0.0001, ANOVA test). The corresponding values in non-IDA group were 16.03+/-1.25%, 16.76+/-1.20% and 16.77+/-2.68% respectively (p=0.269, ANOVA test). At a cut-off value of 17.4%, as obtained from the ROC curve, the sensitivity and specificity of RDW in diagnosis of IDA were 81.0% and 53.4% and a positive and negative predictive value of 63.0% and 72.2% respectively. CONCLUSION: RDW has a limited specificity for diagnosis of IDA among children with microcytic hypochromic anemia.

Transfusion associated GVHD.

Transfusion-associated graft-versus-host disease (TA-GVHD) is an under-diagnosed condition in clinical practice. It can occur in immunocompromised as well as immunocompetent hosts and may follow allogeneic bone marrow transplant or transfusion from a related donor. The clinical course is stormy with a high mortality rate. Avoiding the use of blood transfusions from related donors and irradiation of blood products can prevent graft versus host disease. A case of graft versus host disease following related donor transfusion is presented here.

Early onset neonatal sepsis.

OBJECTIVE: To study the maternal risk factors and clinico-bacteriological profile of early onset sepsis (EOS), in a tertiary care neonatal unit. METHODS: Relevant data of neonates born during the study period were obtained from their case records. A diagnosis of early onset sepsis was made if either clinical sepsis developed within 72 hours of life or if positive blood/CSF cultures were obtained in those with potential maternal risk factors. Statistical analysis was done using Odds Ratio or Chi-square and Fisher's exact t-test as applicable. RESULTS: Among 1743 live births, a total of 69 episodes of sepsis occurred in 65 neonates (43% culture proven) with an incidence of 37.2 per 1000 live births. The incidence of EOS was 20.7 per 1000 live births and it constituted 55.4% of overall sepsis. Among the perinatal risk factors assessed, a significant association of EOS with prolonged rupture of membranes, foul smelling liquor, dai (midwife) handling and maternal urinary tract infection was observed (p < 0.05). Among infants at risk of EOS, 20.6% developed sepsis compared to only 0.5% of those without these risk factors (p 0.001). Even among those at high risk such as low birth weight, preterm, and asphyxiated neonates, incidence of EOS was negligible in the absence of a maternal risk factor. Pneumonia (66.7%), shock (27.7%), metabolic acidosis (19.4%) and meningitis (8.3%) were the comorbidities seen among the cases. Culture proven EOS occurred in 41.6%, Pseudomonas being the commonest (60%) isolate. The case fatality rate was 19.4%. CONCLUSION: Screening for sepsis in an asymptomatic neonate is warranted only in the presence of a maternal risk factor even if the neonate is at high risk of developing sepsis due to associated problems of prematurity, low birth weight or asphyxia. Knowledge of likely causative organisms of EOS can aid in instituting prompt and appropriate therapy, in order to minimise morbidity and mortality.

A case of TRAP sequence: acardiac twin.

Monochorionic twinning contributes significantly to neonatal morbidity and mortality. The twin-twin transfusion syndrome complicates 5-35% of monozygotic twin pregnancies with monochorionic placentation. The most severe and a rare manifestation of this condition is acardiac twinning which is seen in 1 in 35,000 pregnancies. The acronym TRAP (Twin Reversed Arterial Perfusion) sequence is used to describe this condition. The acardiac twin does not survive while the mortality for the normal twin is about 50%. Proper timing of the delivery is of prime importance to survival of the normal fetus for which emphasis is placed on close sonographic monitoring for early antenatal diagnosis. We present such a case of TRAP sequence because of its rarity.