Qudsiya Ansari , Anisha Jain, Kailas Randad, Vinaya Singh, Akash Sarkate,
Volume 18, Issue 5 (Sep-Oct 2024)
Abstract
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare disorder characterized by severe osteoporosis and vision impairment, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. This autosomal recessive disorder is characterized by fractures, bone fragility, and pseudoglioma with blindness in infancy. Herein, we present a rare case of OPPG syndrome in an infant who, at 80 days of life (DOL), exhibited multiple fractures without any ophthalmic findings at the time of presentation. This is relatively earlier presentation of the symptoms as fractures are more commonly seen after two years of life.
Dr Mazhar Khan, Dr Akash Sarkate, Dr Poonam Wade, Dr Sushama Mailk,
Volume 19, Issue 2 (3-2025)
Abstract
ABSTRACT
Objective: The aim of the work is to study the effect of phototherapy on serum calcium level in neonates with hyperbilirubinemia .
Methods: It was an observational study, conducted in the NICU of BYL & T.N. Medical college, Mumbai over a period of 12 months after obtaining permission from institutional ethics committee . This study was performed on 100 neonates (>34 weeks of gestational age) with hyperbilirubinemia managed with phototherapy. A sample of blood was sent to the laboratory for serum calcium level before initiating phototherapy and after completion of phototherapy. All the neonates were clinically assessed for clinical features of hypocalcemia . All the data were recorded in the preformed proforma. Data was analysed using SPSS version 27. P value <0.05 was taken as significant.
Results: The mean age of the neonates was 3±1.2 days .Mean gestational age at the time of birth was 37±1.2 weeks. Mean duration of jaundice was 2.8±1.10 days. The median serum calcium (mg/dL) level before phototherapy was 8.6 (8.49–8.61). After phototherapy, the median serum calcium (mg/dL) levels were reduced to 7.35 (7.33–7.50), which was significant (p<0.001). Hypocalcemia was defined as a serum calcium level of 8 mg/dL, and the incidence of hypocalcemia in the study population was 16%. 60% of new-borns with hypocalcemia experienced mild symptoms like jitteriness or irritability.
Conclusion: The Incidence of hypocalcemia is significant in the jaundiced neonates treated with phototherapy. One needs to be watchful in dealing neonates in NICU while serial monitoring for hypocalcemia and its complications.
