Perrault syndrome: The Way Forward After Genetic Counselling?

Area of Science:

• Genetics
• Neonatal Medicine
• Pediatric Neurology

Background:

• A family history of a severe HSD17B4 mutation in an elder sibling prompted genetic screening.
• The parents were identified as heterozygous carriers for the HSD17B4 mutation.

Observation:

• Prenatal diagnosis confirmed fetal homozygosity for the HSD17B4 mutation via amniocentesis.
• The pregnancy was continued due to normal antenatal findings and maternal history.
• A female neonate was born with a birth weight of 2.65 kg, experiencing a smooth perinatal transition.

Findings:

• The neonate exhibited normal abdominal, pelvic, and head ultrasounds in the neonatal period.
• The infant was vaccinated according to the national schedule and demonstrated normal weight gain.
• Postnatal follow-up and counseling were initiated regarding the HSD17B4 mutation's implications.

Implications:

• This case illustrates the phenotypic variability associated with HSD17B4 mutations.
• Early genetic counseling and carrier screening are crucial for families with a history of genetic disorders.
• Continued monitoring and research are essential for understanding and managing HSD17B4-related conditions.