HCMCT Manipal Hospital Dwarka Successfully treats 1-year-old for Rare Genetic Disorder LBRA deficiency

New Delhi: Doctors at HCMCT Manipal Hospitals, Dwarka, achieved yet another significant milestone in the field of medical diagnosis and treatment by successfully treating a one-year-old infant with LBRA deficiency with DEEAH (Development delay with Endocrine, Exocrine, Autonomic and Hematologic abnormalities) Syndrome. The child’s history revealed that his condition began to deteriorate during the sixth month after birth, with significant weight loss and alarming symptoms. This resulted in multiple hospitalizations for delayed growth, severe malnutrition, persistent diarrhoea, bloody stools, vomiting, and reduced kidney function and severe malnutrition and delayed milestones for age necessitating an extensive examination to discover the underlying reason.

The child weighed 2.8 kg at birth and his growth was normal till 5months of age following which he developed recurrent diarrhea requiring multiple hospital admissions he became severely malnourished weighing only 5.5 kg at the age of 1 yr, far less than the usual weight range of 10-12 kg. While seeking specialized care, the child’s family got to know about Dr. Sufla Saxena, HOD Paediatric Gastroenterology and Hepatology at HCMCT Manipal Hospital Dwarka, and travelled from Mumbai to seek treatment.

He had multiple loose stool ranging from 15-20 /day, severe malnutrition and dehydration with deranged renal functions and severe anemia. Initially he was managed in PICU and once the child stabilized then a series of investigations were planned

Dr. Sufla Saxena and her team performed comprehensive medical exams, including endoscopy and biopsy, to rule out possible infections and enteropathy as underlying reasons. Further investigation into unusual congenital disorders became necessary while investigating numerous possibilities such as post-infectious enteropathy, food allergen-induced ailments, malabsorption and metabolic disorders early onset inflammatory bowel disease. As previously reported, genetic testing played an important role in understanding the complexity of the child’s condition. Genetic testing, however, confirmed the presence of LBRA deficiency with DEEAH Syndrome, indicating both immune system dysfunction and developmental abnormalities.

Dr. Sufla Saxena, HOD Paediatric Gastroenterology and Hepatology, HCMCT Manipal Hospital Dwarka, highlighted the importance of early detection and treatment for such conditions, saying, “Genetic testing offers invaluable insights and has proven instrumental in diagnosing LBRA deficiency in this case. Some genetic mutations may go undetected in carriers until later in life, making early detection a life-saving measure. However, with a proper diagnosis and specific treatment approach, we were able to successfully treat this child, who is now recovering and gaining weight.”

LBRA deficiency is an extremely rare hereditary immune system condition caused by mutation in the LRBA gene. This disorder affects the immune system functions normal regulation, leading to excessive lymphocyte production (lymphoproliferation), autoimmunity, and low antibody levels (hypogammaglobulinemia), and recurring infections. It has an autosomal recessive inheritance that means both parents carry the abnormal gene . Individuals with LBRA deficiency are also more likely to develop lymphoma, a form of cancer. LBRA deficiency is diagnosed through a thorough examination of clinical signs, laboratory results, and genetic testing.

Diagnosis of Chronic Diarrhea is a challenge and it’s important to differentiate the cause as the treatment and prognosis varies based on underlying cause especially in young infants.

Clinical genomic studies also helps counsel the young parents regarding the disease and to plan for future pregnancies.