Polyvisceral polycystic disease: a case study and review

Area of Science:

• Medical Genetics
• Fetal Pathology
• Pediatric Nephrology

Background:

• Polycystic kidney disease (PKD) affects 1 in 20,000 births, primarily impacting kidneys.
• Cysts in additional organs like the liver, adrenal glands, and bladder are exceptionally uncommon.
• Literature review indicates co-occurrence with polycystic liver disease, but not widespread visceral involvement.

Observation:

• A 36-week gestation fetal autopsy revealed multiple cysts in the kidneys, liver, adrenal glands, and bladder.
• Histopathology confirmed the diagnosis of polycystic kidney disease.
• Previous intrauterine fetal demise at 28 weeks suggested a potential familial inheritance pattern.

Findings:

• This case presents a rare instance of polycystic kidney disease with extensive cysts across multiple viscera.
• Prenatal ultrasonography failed to detect these widespread abnormalities.
• Fetal autopsy proved crucial for diagnosis, especially with incomplete obstetric history.

Implications:

• Fetal autopsy is vital for diagnosing rare congenital anomalies, particularly when prenatal imaging is inconclusive.
• Accurate diagnosis aids in genetic counseling for parents, informing them about recurrence risks in future pregnancies.
• This case expands the known spectrum of polycystic kidney disease manifestations.