LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Area of Science:

• Genetics and Molecular Biology
• Developmental Biology
• Clinical Medicine

Background:

• Cardio-facio-cutaneous (CFC) syndrome is a rare genetic disorder characterized by facial dysmorphia, ectodermal and cardiac abnormalities, growth retardation, and neurodevelopmental delay.
• CFC syndrome belongs to the RAS syndromes, resulting from mutations in genes within the RAS/MAPK signaling pathway, including BRAF, MEK1/2, HRAS, and KRAS.
• It shares overlapping clinical features with other RASopathies like Costello syndrome and Noonan syndrome, emphasizing the complexity of genotype-phenotype correlations.

Observation:

• This report presents a rare case of CFC syndrome with a specific KRAS gene mutation.
• The patient exhibited a constellation of symptoms including chylothorax, lymphedema, sinus pericranii, craniosynostosis, and seizures.
• This represents the second documented case of CFC syndrome with this particular genetic basis in the medical literature.

Findings:

• The study identifies a KRAS mutation as the molecular cause of CFC syndrome in the described patient.
• The clinical presentation highlights the diverse and severe manifestations associated with this specific genetic defect.
• This case underscores the importance of considering molecular diagnosis in patients with overlapping RAS syndrome phenotypes.

Implications:

• Accurate clinical diagnosis is crucial for proper classification and management of RAS syndromes.
• Understanding the molecular basis of CFC syndrome aids in differentiating it from other RASopathies.
• This case contributes to the limited literature on CFC syndrome, particularly those with KRAS mutations, potentially guiding future research and clinical approaches.