Case presentation:
A 20 years old pregnant woman was admitted to our Pediatrics department for her second pregnancy due to preterm, premature rupture of membrane and obstetric pain. Her gestational age of pregnancy was approximately 36 weeks based on the first day of the last menstrual period. No remarkable complication were seen in the last ultrasound examination (USG) at 28th weeks of pregnancy. She had negative history of consanguinity of marriage, any relevant past medical history and her family members reporting such condition. She denied of having any allergy history and was immunized against Tetanus Toxoid and Covid-19 vaccine. Her first child died due to neonatal jaundice after 5 days of birth via caesarean section few years ago.
Her physical examinations were all normal and initial conservative treatment was given along with Inj. Dexamethasone 5mg, 2.5 ampoule IM stat. Then, the patient was counselled for caesarean section mode of delivery.
A female, 2.5 kg baby with Harlequin Ichthyosis was born. Figure 1. HI features were noted by the presence of thick skin with deep fissures, general hyperkeratinization, cyanosis, flat fontanels, ectropion, immature eyes and auricles, bradycardia, bradypnea, and moaning in the physical examination. Her APGAR score was 3 in the 1stminute and the 5th minute. Immediately, she was referred to neonatal intensive care unit. However, the father of the child was unwilling for the treatment despite several attempts of counseling and had to be discharged with a risk bond.
Patient’s parents perspective:
The patient’s parents belonged from a lower-middle-income family and didn’t had enough money for the management. In addition, they mentioned about the social stigmata being a important role to not to treat the baby. According to their statement, they weren’t informed about such condition on their previous USG reports nor performed any anomaly scan of the fetus. However, we counselled them about the genetic condition and need for caution in the future pregnancies with proper test to detect HI.