The child, born to a couple residing in Bandra after four years of marriage, had initially been dependent on breast milk. However, her health began deteriorating, prompting multiple medical consultations before she was brought to Bai Jerbai Wadia Hospital on May 29. Pediatric cardiologist Dr. Sumitra Venkatesh reported that the parents arrived with an X-ray showing an abnormally enlarged heart relative to the infant’s age.
Upon clinical evaluation, doctors extracted a blood sample and were alarmed to observe that the blood, instead of appearing red, had turned a thick pinkish color due to extreme fat content. Laboratory analysis revealed triglyceride levels of 42,000 mg/dL, approximately 300 times higher than the normal physiological range. Further investigation confirmed a diagnosis of Familial Lipoprotein Lipase Deficiency, a disorder estimated to occur in roughly one in one million individuals.
Given the severity of the condition, the medical team made the critical decision to stop all oral feeding, including breast milk, for two weeks. During this period, the infant was placed on intravenous nutrition for 16 days. The baby frequently cried from hunger, causing emotional distress to the mother, while the medical staff used a pacifier to help soothe her.
A significant challenge arose in formulating a safe and affordable diet for long-term management. Imported specialized nutritional feeds recommended for such conditions were financially beyond the family’s means, as the child’s father works as a mechanic. Consequently, the hospital’s nutrition team developed a cost-effective alternative using readily available skimmed milk powder to prepare a customized infant formula.
By the 19th day of hospitalization, the infant’s triglyceride levels had dropped significantly to 242 mg/dL, and her blood returned to a normal appearance. Her cardiac function also showed marked improvement. Genetic testing subsequently confirmed the diagnosis of Familial Lipoprotein Lipase Deficiency.
Medical Director Prof. Dr. Sudha Rao stated that the child will require lifelong avoidance of fatty foods but is expected to develop normally under proper dietary management. The father expressed relief, noting that the family had never anticipated such a rare diagnosis and that the primary concern was saving their child’s life after an unexpected prolonged hospital stay.
The successful intervention highlights the critical role of early diagnosis, specialized neonatal care, and innovative nutritional planning in managing ultra-rare metabolic disorders in infants.
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