Mumbai doctors in Haji Ali successfully performed a complex surgical procedure to treat a rare case of Hereditary Elliptocytosis of a three-month-old patient.
The case presented a diagnostic challenge that was meticulously navigated by Narayana Health SRCC Children’s Hospital’s team, led by Dr. Aditya Kulkarni, consultant- pediatric gastroenterology and hepatology.
Born as the first living child of his parents’ third pregnancy, the patient had been suffering from jaundice since birth, which was first noticed by his parents on the third day of life.
When he was brought to the hospital at 45 days old, he exhibited persistent jaundice and slightly dark-coloured urine. Given his complex history, which included maternal pregnancy-associated diabetes mellitus, a thorough diagnostic approach was adopted.
Upon arrival at the hospital`s OPD, the infant underwent a series of comprehensive evaluations, including abdominal sonography, liver function tests, and TORCH panel testing for congenital infections. Initially suspected to have indirect jaundice related to red blood cell disorders, further investigations—including a HIDA scan and haematological assessments—were performed to rule out liver disease and other inherited conditions. Despite extensive evaluations, the root cause remained elusive until Whole Exome Sequencing provided a breakthrough diagnosis: Hereditary Elliptocytosis due to a SPTA1 gene mutation.
Hereditary Elliptocytosis is a rare condition affecting red blood cell membranes, leading to premature breakdown of red cells and persistent jaundice. The case was particularly challenging because initial external reports suggested direct jaundice, which would typically point toward a liver disorder rather than a hematological condition. This discrepancy required the medical team to rely more on clinical assessment rather than just lab values to ensure accurate diagnosis and treatment.
Once the correct diagnosis was confirmed, the infant was started on hematinics to improve blood haemoglobin levels. Fat-soluble vitamin supplements and MCT oil were added to aid in growth and development. With an initial haemoglobin level of 6.9, he required a blood transfusion to stabilise his condition. Over a five-day hospital stay, the infant showed significant improvement, and his parents were counselled on the benign yet fluctuating nature of the disorder, especially during periods of stress or illness.
Dr Aditya said, “As a pediatric hepatologist, I have encountered numerous cases of neonatal jaundice, each presenting its own diagnostic challenge. Hereditary Elliptocytosis, occurring in approximately 1 in 4,000 individuals, is often difficult to diagnose due to its overlapping symptoms with liver-related jaundice. This particular case was complex as the infant initially presented with signs mimicking liver dysfunction, necessitating extensive but essential testing before reaching the correct diagnosis. Neonatal jaundice is a diagnostic Pandora’s box with a vast spectrum of potential causes. Differentiating these causes requires meticulous clinical correlation with biochemical findings to minimise unnecessary interventions. This case underscores the importance of a multidisciplinary approach and highlights that not everything that appears yellow is necessarily related to the liver.”
Dr Zubin Pereira, facility director of the hospital, said, “This case exemplifies our commitment to medical excellence and patient-centered care. Successfully diagnosing and treating such a rare condition highlights the expertise, dedication, and collaborative effort of our multidisciplinary team in providing the best possible outcomes for our young patients. It also reinforces the critical role of advanced diagnostics in tackling complex pediatric cases. At Narayana Health SRCC, we strive to combine cutting-edge medical science with compassionate care to ensure every child gets the best start in life.”
The patient`s parents said, ‘’As parents, we were engulfed in fear and uncertainty, not knowing what the future held for our precious child. However, our path to hope and healing began the moment we met Dr. Aditya Kulkarni. From the very first consultation, Dr. Aditya’s profound expertise and compassionate demeanor reassured us that we were in the best hands. With meticulous care, he conducted a thorough diagnosis, leaving no stone unturned. The treatment plan devised by Dr. Aditya was not only comprehensive but also tailored to our son’s unique needs. Throughout the treatment process, Narayana Health SRCC staff & doctors were a beacon of support, always available to address our concerns and provide guidance. The dedication and unwavering commitment to our son’s well-being’’.
