In a shocking and heartbreaking incident, a woman from Chakghat tehsil in Madhya Pradesh’s Rewa district gave birth to a premature baby diagnosed with Harlequin Ichthyosis one of the rarest and most life-threatening genetic skin disorders in medical science.
The baby was born at approximately 7 AM Wednesday at the Chakghat Community Health Centre, two months away from the expected delivery date. Within a few hours after the delivery, doctors noticed multiple visible deformities and referred the baby to the Neonatal ICU at Gandhi Memorial Hospital in Rewa for urgent treatment.
The mother, Priyanka Patel, is from Dhakhra Sonnouri village in Tyonthar tehsil, and is the daughter-in-law of Shanti Devi Patel. The family reported that Priyanka had been attending regular prenatal visits with both government and private hospitals. Multiple ultrasound scans were done during the pregnancy, including one scan just a day before delivery, all showed no abnormalities. To the family’s knowledge, the pregnancy had seemed normal and there were nearly two months left before the due date.
But late Tuesday night, Priyanka suddenly went into labour, leaving the family in panic. The premature delivery came as an overwhelming shock.
The baby’s condition is critical. Speaking on the matter, Dr. Naveen Kumar Mishra from Gandhi Memorial Hospital’s Neonatal ICU confirmed that the newborn has Harlequin Ichthyosis, a severe genetic disorder caused when both parents carry the faulty gene. The disease leads to thick, cracked, plate-like skin, distortions in facial features, and bulging eyes. These symptoms severely affect vital functions like breathing and increase the risk of fatal infections.
Dr. Mishra also observed signs of Collodion Baby syndrome, another rare condition in which newborns are encased in a shiny, tight membrane of skin. This adds further complications to breathing and makes the infant highly vulnerable to infections. Due to respiratory distress, the baby has been kept on continuous oxygen support since birth.
“This is an extremely rare case. Hardly one or two babies like this are born in a year,” said Dr. Mishra, adding that while intensive care is ongoing, the baby’s chances of survival are unfortunately slim.
At home, the family is still coping with disbelief and loss. “We were informed everything was normal. In fact, the last scan indicated the baby was fine,” said Shanti Devi Patel the baby’s grandmother, choking back tears.
The medical team has ramped up care and is also providing counselling to the parents, who are really yet to process a traumatic event. It is a rare case, and it has prompted dialogue in the region about the significance of early genetic screening especially in rural and semi-urban areas where access to cutting-edge diagnostic testing is often limited.
While doctors continue to fight to save the newborn, this situation has awakened the reality of gaps in prenatal care and the urgent need to promote awareness about genetic disorders in India.
