New Delhi : Doctors at HCMCT Manipal Hospital Dwarka have successfully treated a 3-year-old boy with a rare case of LRBA deficiency, a complex immune disorder affecting 1 in 25,000 to 1 in 50,000 people. He was brought to the hospital suffering from persistent diarrhea, malnutrition, and growth delay for almost two years.
Despite undergoing multiple treatments abroad, including gluten-free diets and immunosuppressive injections, the child weighed only 9 kgs, almost the same as an average 1-year-old. He lacked normal growth and was unable to walk or gain weight. Under the treatment offered by Dr. Sufla Saxena and her team, the child showed rapid progress. For the first time in two years, his chronic diarrhea stopped within a week, severe intestinal inflammation also got normalized. With better nutrition and immune control, he began gaining weight, became more active, and started walking.
Speaking on the case, Dr Sufla Saxena, HOD - Paediatrics and Paeds Gastroenterology, HCMCT Manipal Hospital Dwarka said, “When the child was brought to us, he was anemic, extremely irritable, and malnourished. As we had previously dealt with a similar case, we suspected an immune disorder and used an endoscopy along with other bloodwork and genetic testing for diagnosis.
After a week of treatment, his diarrhea got better and his first normal poop was a sign of relief for both the child and his parents. With the right care and improved nutrition, he started gaining weight and is now walking normally. Cases like these highlight the importance of early diagnosis, which can improve the quality of life for patients especially little ones.”
This marks the second successful LRBA case treated at HCMCT Manipal Hospital Dwarka. The earlier case involved an even rarer overlap condition known as DHEAA syndrome, making the hospital one of the few centres in India with expertise in diagnosing and managing such rare paediatric immunodeficiencies.