Mumbai docs successfully treat rare pediatric case of hereditary elliptocytosis

Mumbai doctors in Haji Ali successfully performed a complex surgical procedure to treat a rare case of Hereditary Elliptocytosis of a threemonthold patientThe case presented a diagnostic challenge that was meticulously navigated by Narayana Health SRCC Childrenrsquos Hospitalrsquos team led by Dr Aditya Kulkarnienspconsultant pediatric gastroenterology and hepatologyBorn as the first living child of his parentsrsquo third pregnancy the patient had been suffering from jaundice since birth which was first noticed by his parents on the third day of lifeWhen he was brought to the hospital at 45 days old he exhibited persistent jaundice and slightly darkcoloured urine Given his complex history which included maternal pregnancyassociated diabetes mellitus a thorough diagnostic approach was adoptedUpon arrival at the hospitals 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 investigationsmdashincluding a HIDA scan and haematological assessmentsmdashwere 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 mutationHereditary 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 treatmentOnce the correct diagnosis was confirmed the infant was started on hematinics to improve blood haemoglobin levels Fatsoluble vitamin supplements and MCT oil were added to aid in growth and development With an initial haemoglobin level of 69 he required a blood transfusion to stabilise his condition Over a fiveday 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 illnessDr 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 4000 individuals is often difficult to diagnose due to its overlapping symptoms with liverrelated 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 Pandorarsquos 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 liverDr Zubin Pereira facility director of the hospital said ldquoThis case exemplifies our commitment to medical excellence and patientcentered 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 cuttingedge medical science with compassionate care to ensure every child gets the best start in lifeThe patients parents said lsquorsquoAs 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 Adityarsquos 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 sonrsquos unique needs Throughout the treatment process Narayana Health SRCC staff amp doctors were a beacon of support always available to address our concerns and provide guidance The dedication and unwavering commitment to our sonrsquos wellbeingrsquorsquo