Holt-Oram syndrome in an infant presenting with heart failure

Holt-Oram syndrome is an autosomal dominant condition characterized by morphological abnormalities of upper limbs andcongenital cardiac defects. We report a case of 6-week-old infant with morphological alterations of upper limbs (absent radiusand hypoplastic ulna) since birth and multiple congenital cardiac defects (atrial septal defects and ventricular septal defects), whopresented with congestive cardiac failure. This case report illustrates that neonates with anomalies of thumb or upper limbs shouldbe evaluated for possible congenital heart defects

Evaluation of iron overload and adequacy of packed red blood cells transfusion in children with thalassemia major

Background: Transfusion therapy in patients with thalassemia major needs to address the common questions such as what should be the optimal hemoglobin (Hb) level for effective transfusion and how do transfusion requirements affect the success of iron chelation therapy. Objective: The objective of the study was to evaluate iron overload and adequacy of packed red blood cells (PRBCs) transfusion in children with thalassemia major along with the correlation of serum ferritin level with transfusional iron load and pre‑transfusion Hb level. Materials and Methods: This single‑center retroprospective observational study was carried out in thalassemia day care center of tertiary care hospital for 1 year over 32 transfusion‑dependent β‑thalassemic patients up to 18 years of age. Data including pre‑transfusion hemoglobin level, number and volume of PRBC transfused, and serum ferritin level for 1 year were analyzed, and annual transfusion iron load was calculated. Correlation of serum ferritin level with transfusional iron load and pre‑transfusion Hb level was determined using Pearson coefficient (r) and p-value. Results: The mean pre‑transfusion hemoglobin level was 6.4±0.23 g%. The average number and volume of PRBCs transfused in a year were 12.5±3.02 and 112 ml/kg, respectively, with the average annual transfusional iron load of 121.3 mg/kg ±28.9 or 0.3 mg/kg/day. A significant positive (r=0.4184, p=0.017) correlation was observed between serum ferritin level and transfusional iron load with the mean serum ferritin level of 1744±604.6 ng/ml. Negative correlation was observed between serum ferritin and pre‑transfusion Hb level (r=−0.2624 and p=0.1537). Conclusion: All patients were undertransfused and this undertransfusion further leads to more accumulation of iron in the body through increased absorption of dietary iron as a result of anemia and ineffective erythropoiesis

Caffey Disease in Infancy: A diagnostic dilemma for primary care physicians

Caffey disease is a rare and self-limiting condition characterised by cortical hyperostosis with inflammation of adjacent fascia and muscles. It usually presents in infancy and clinical features include hyperirritability, acute inflammation with swelling of overlying soft tissues and subperiosteal new bone formation. Awareness of the existence of this rare condition and its typical clinical and radiological profile will avoid unnecessary investigations and treatment and help the physician to explain its good prognosis to parents of affected children. We report a three-month-old male infant who presented to the Outpatient Paediatrics Department at Moti Lal Nehru Medical College, Allahabad, India, in 2018 with a right shoulder mass, decreased upper limb movements and irritability. The patient was treated with ibuprofen and paracetamol. Irritability and limitation of movement improved over a treatment period of two weeks.Keywords: Caffey Disease; Infant; Prostaglandin E1; Thrombocytosis; Case Report; India