Abstract
BACKGROUNDNoonan 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.OBSERVATIONSNumerous 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.LESSONSThe 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.
Highlights
Noonan syndrome (NS) is a rare genetic RASopathy with multisystem implications
NS is most commonly characterized by short stature, distinctive facial features, intellectual disability, developmental delay, chest deformity, and congenital heart disease, it can affect most organ systems.[2]
Chiari I malformation (CM-I) and syringomyelia should be considered as potential factors in any patient with NS and spinal concerns, including scoliosis
Summary
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. 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. Noonan syndrome (NS) is a rare genetic disorder affecting between 1 in 1,000 and 1 in 2,500 individuals worldwide.[1] NS may affect more males than females, and it displays a wide array of features depending on the causative gene mutation.[2] This disorder is most commonly inherited in an autosomal dominant fashion, autosomal recessive inheritance and spontaneous mutations are implicated for certain subpopulations. PTPN11 is the most frequent gene mutation in NS and is found in approximately 50% of affected individuals.[1]
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