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Apollomedics Super Specialty Hospitals, Lucknow successfully treated and saved a 2-day-old baby suffering from Christmas disease

Date: 10 Jul 19

A 2-day-old male baby, suffering from a rare bleeding disorder, was saved by the Peadiatric and Neonatology team at Apollomedics Supper Speciality Hospitals, Lucknow. Dr Mritunjai Kumar, Paediatrician along with Dr. Shefalika, Dr. Shivani, Dr. Indrapal and Dr. Sidharth conducted the treatment of this rare disease called Christmas disease at Apollomedics Hospitals Lucknow.

Founder and Co-Chairman of Apollomedics Super Speciality Hospital Dr. Sushil Gattani said that "the baby was rushed at 40 hours of life in a gasping state. After initial resuscitation baby was referred to Apollomedics Supper Specialty Hospitals where we immediately intubated the baby. Baby was extremely pale and was in severe shock. We immediately put him on mechanical ventilator, the baby was persistently bleeding and we had to use highest permissive pressures on ventilator. Even after using a very high pressure, it was really tough for us to maintain SPO2 >50% because of massive lung haemorrhage."

Dr Mritunjai Kumar, Paediatrician, Apollomedics Super Speciality Hospital further said that "after 3 days, baby became slightly better hemodynamically and ventilator support was reduced a little. But the same day, we experienced an unpredictable scare as the baby developed a second episode of massive pulmonary hemorrhage. Gross haematuria persisted and gradually urine output started falling. After 2 days of dialysis, baby started passing urine again and KFT and electrolytes improved. Coagulation profile was deranged severely and we could achieve bleeding control only by the 7th day of admission. We had a very tough time maintaining nutrition for the baby and maintaining RBS as we were left with hardly any space for fluids because of too many blood product transfusions. Initially baby was managed by total parenteral nutrition and now has been put on breast feeds."

Dr Mritunjai, giving further information about the disease ,mentioned that Haemophilia B is 4 times less common than Haemophilia A, making it a 1 in 20000 incidence. The condition is caused by defects in the genes responsible for the production of proteins important in the blood clotting mechanism. In haemophilia A, which represents 80-85% of cases, defects occur in the gene responsible for the production of a protein called factor VIII (FVIII), whereas the defect in haemophilia B affects factor IX (FIX) production, though the two conditions are clinically indistinguishable. If a female (karyotype XX) inherits an abnormal copy of the haemophilia gene from one parent, she becomes a carrier but is not clinically affected because she has a second normal copy of the gene on her other X chromosome. However, a male (karyotype XY) inheriting an abnormal copy will always be affected as he only has one X chromosome. Although haemophilia can be inherited, it is important to remember that around a third of cases occur due to a sporadic mutation of the gene, meaning there will be no family history of the condition. In haemophilia, the APTT is prolonged but PT, fibrinogen and platelets are normal. Diagnosis is confirmed by FVIII and FIX assays. In haemophilia A, the diagnosis can be made at birth because factor VIII levels are within the adult range in both term and preterm babies. In the case of haemophilia B, diagnosis of severe cases is possible, but factor IX levels in mild cases overlap with the normal newborn range, so definitive diagnosis may not be possible until around six months of age.

Apollomedics Super Speciality Hospital was successful in treating this rare disease and gave a new lease of life to the baby.

 

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