Physical, occupational and speech therapy are essential to management. Cerebellar volume reduction may not be apparent in the first postnatal year, but becomes clearly reduced in childhood and tends to plateau with minimal progression after adolescence. Immunoglobulin deficiency was encountered in one patient. Retinopathy has been encountered in a patient, suggesting thorough retinal exam and ERGs may be informative in adolescents or young adults.
For CDAGS, dysmorphologies may require surgical consultation and management. Dermatological intervention for skin manifestations may also be required.
RNU12