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.