For Noonan syndrome, baseline cardiac, neurological and behavioural assessment is recommended, as well as growth and development assessment during childhood (surgery may be required for dysplastic valve and physical therapy may be required for hypotonia) and adolescence (monitoring for hypertrophic cardiomyopathy, scoliosis and cognitive deficits).
For schwannomaotsis, annual neurological examination and assessment for pain is recommended from 12-14 years of age. Surgery may be the most effective treatment for symptomatic or growing schwannomas, but depending on the likelihood of loss of nerve function, pain management may be recommended. Pain killers such as tricyclic antidepressants and gabapentinoids are recommended for first line pain medication, while selective serotonin reuptake inhibitors (SSRI) or other anti-seizure drug (ASD) are recommended as second line treatments.
Genetic counselling should include the 50% risk of inheritance of germline inherited variants and the known reduced penetrance of disease for LZTR1-related schwannomatosis.
LZTR1