Renal involvement and Strømme syndrome.

Area of Science:

• Genetics
• Pediatrics
• Nephrology

Background:

• Strømme syndrome is a rare autosomal recessive congenital disorder.
• It is caused by variants in the Centromeric protein F (CENPF) gene.
• Typically associated with lethal outcomes in fetal or early life stages.

Observation:

• A rare case of a young adult diagnosed with Strømme syndrome is presented.
• The patient exhibited classic symptoms: microcephalia, microphthalmia, and apple peel-type intestinal atresia.
• Unexpectedly, the patient developed end-stage renal disease (ESRD).

Findings:

• This case demonstrates a prolonged survival of Strømme syndrome into adulthood.
• It highlights a previously under-recognized potential complication of ESRD in Strømme syndrome.
• The study underscores the complex multiorgan involvement of this rare genetic disorder.

Implications:

• Strømme syndrome requires multidisciplinary management due to its multiorgan nature.
• Clinicians should consider the potential for late-onset end-stage renal disease in Strømme syndrome patients.
• This finding expands the known clinical spectrum and long-term prognosis of Strømme syndrome.