Management of failed Chiari decompression and intrasyringeal hemorrhage in Noonan syndrome: illustrative cases

Background: Noonan syndrome (NS) is a rare genetic RASopathy with multisystem implications. The disorder is typically characterized by short stature, distinctive facial features, intellectual disability, developmental delay, chest deformity, and congenital heart disease. NS may be inherited or arise secondary to spontaneous mutations of genes in the Ras/mitogen activated protein kinase signaling pathways.

Observations: Numerous case reports exist detailing the association between NS and Chiari I malformation (CM-I), although this relationship has not been fully established. Patients with NS who present with CM-I requiring operation have shown high rates reoperation for failed decompression. The authors reported two patients with NS, CM-I, and syringomyelia who had prior posterior fossa decompressions without syrinx improvement. Both patients received reoperation with successful outcomes.

Lessons: The authors highlighted the association between NS and CM-I and raised awareness that patients with these disorders may be at higher risk for failed posterior fossa decompression, necessitating reoperation.