autosomal recessive genetic

Cloudnine NICU In Panipat Gives New Lease Of Life To Baby With Collodion Syndrome

In a complicated and rare case, pediatricians and neonatologists at the Neonatal Intensive Care Unit (NICU) of Cloudnine Newborn Center in Panipat saved the life of a baby born with Collodion Syndrome. The baby boy, born at 36 weeks to a couple from Zirakpur, was referred from a peripheral hospital with a congenital skin condition, which is characterized by tight, waxy, shiny skin resembling plastic. This autosomal recessive genetic disorder is a dermatological emergency, with an estimated incidence of 1 in 50,000 to 100,000 births. This is the first reported case to survive in Panipat.

Baby of Sheetal (name changed for confidentiality reasons) was born to a 34-year-old mother with an uncomplicated antenatal course. The infant was born preterm at 36 weeks via normal delivery. The baby had red skin covered by a thick membrane known as the collodion membrane on the chest, upper and lower extremities, with eyelid and lip eversion, and deformed ears.

Daily monitoring of weight, serum electrolytes, and input/output was performed

After initial treatment at a peripheral hospital for a few days, the baby was referred to the NICU at Cloudnine Panipat. Upon arrival, the baby required oxygen support and was nursed in an incubator with 70% humidity. A dermatology consult was obtained, and skin emollients were initiated. The baby’s infection screen was positive, and a 2-week course of high-grade IV antibiotics was given. Daily monitoring of weight, serum electrolytes, and input/output was performed, and IV fluids were administered to maintain hydration and prevent electrolyte imbalances. Over time, the eyelid and lip eversion improved with the shedding of the collodion skin membrane.

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The parents were recommended to undergo genetic testing on an outpatient basis. The absence of consanguinity or family history of similar findings was noted, and the elder sibling of the infant was normal. The parents were counselled regarding the autosomal recessive inheritance pattern of most cases of congenital ichthyosis.

According to Dr. Shalin Parikh, Consultant Neonatologist & Pediatrician at Cloudnine Group of Hospitals, Panipat, “The Collodion Baby Syndrome is a rare and potentially life-threatening dermatological condition. Very few infants with this disorder survive the first week of life and have almost 50% chance of mortality. Timely diagnosis and referral to a tertiary care neonatal center can improve prognosis and prevent complications in such babies. This case was challenging as the infant had acquired an infection during his admission outside, and there was respiratory distress. It required multi-disciplinary management from skin and ENT specialists. With timely interventions and parents’ trust in our team, we were able to save the baby’s life. The infant was discharged after 10 days of NICU stay at a weight of 2.2 kg. On follow-up, the infant had an excellent skin texture and good weight gain’.

While cases related to collodion baby syndrome have been reported earlier in other parts of our country the successful result, in this case, is wholly credited to the NICU team’s systematic clinical expertise in managing tertiary-level neonatal cases.

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