Mumbai, July 15, 2026: What was initially suspected to be a congenital heart defect in a two-and-a-half-month-old baby girl turned out to be one of the rarest inherited metabolic disorders, with doctors at Bai Jerbai Wadia Hospital for Children successfully saving the infant through timely diagnosis and multidisciplinary treatment.
Rare Diagnosis Confirmed
Baby Rida Shaikh, the first child of Bandra residents Mohammad Shaikh and Saniya Shaikh after four years of marriage, was referred to the hospital on May 29 for evaluation of hypertrophic cardiomyopathy (HCM) after doctors detected an enlarged heart.
During routine investigations, however, doctors made an unusual finding. Instead of its normal red colour, the infant's blood appeared milky white, prompting further tests that revealed dangerously high triglyceride levels of over 42,000 mg/dL—hundreds of times above the normal range.
Dr Sumitra Venkatesh, Paediatric Cardiologist, said, "During the OPD cardiac evaluation, we noticed the baby had markedly elevated serum triglyceride levels of more than 42,000 mg/dL, whereas normal levels are below 100 mg/dL. Such extremely high levels are exceptionally rare and can be life-threatening."
The findings led doctors to suspect Familial Lipoprotein Lipase Deficiency (LPLD), a rare inherited disorder in which the body cannot break down fats properly. Excess fat had accumulated in the baby's heart, liver, blood vessels, and eyes, severely affecting multiple organs.
Multidisciplinary Treatment Begins
A multidisciplinary team comprising specialists in paediatric endocrinology, cardiology, lipidology, hepatology, critical care, radiology, genetics, and nutrition was immediately formed. The infant was kept off oral feeds for 16 days and provided fat-free intravenous nutrition under close monitoring.
"Managing the nutritional requirements of such a young infant without oral feeds was challenging. With serial monitoring, triglyceride levels steadily declined, allowing us to gradually introduce specially formulated ultra-low-fat feeds," Dr Venkatesh added.
By the 19th day of hospitalisation, the baby's triglyceride level had fallen to 242 mg/dL. Her blood regained its normal colour, fat deposits in vital organs reduced significantly, and heart function improved. Genetic testing later confirmed the diagnosis of LPLD. Rida was discharged on June 29 and is now doing well on a strictly supervised low-fat diet.
Experts Highlight Importance
Professor Dr Sudha Rao, Medical Director and Chief of Paediatric Endocrinology, said, "Familial lipoprotein lipase deficiency affects nearly one in a million people. The child will require lifelong dietary fat restriction, regular lipid monitoring and surveillance for complications such as pancreatitis. With proper care, the long-term outlook for growth and development is good."
Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital for Children, said, "This case demonstrates how early recognition, accurate diagnosis and seamless multidisciplinary collaboration can transform the outcome of an otherwise devastating rare disease."
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Expressing gratitude, the baby's parents said, "We are deeply grateful to the entire team at Bai Jerbai Wadia Hospital for Children for their timely diagnosis, constant support and dedicated care that saved our baby's life. Seeing our daughter smile again is the greatest blessing for our family."
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