Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate

Area of Science:

• Genetics
• Pediatrics
• Medical Case Reports

Background:

• Pai syndrome (PS) is characterized by midline cleft lip, facial polyps, and CNS lipomas, but exhibits significant phenotypic variability.
• The full clinical spectrum and etiology of Pai syndrome remain incompletely understood.

Observation:

• A newborn presented with congenital nasal septal lipoma, corpus callosum lipoma, minor facial dysmorphism, and notably, multiple ventricular septal defects.
• This represents the first documented instance of multiple ventricular septal defects in a patient diagnosed with Pai syndrome.

Findings:

• Cytogenetic analysis revealed a normal male karyotype (46, XY).
• Chromosomal microarray analysis (750K array) did not identify any chromosomal abnormalities.
• The case expands the phenotypic spectrum of Pai syndrome, particularly regarding cardiac anomalies.

Implications:

• This report underscores the importance of comprehensive cardiac evaluation in newborns diagnosed with Pai syndrome.
• The genetic evaluation of this case, the first from Turkey, contributes to the global understanding of Pai syndrome's genetic underpinnings.
• Further research is warranted to elucidate the genetic basis and expand the phenotypic characterization of Pai syndrome.