Summary of MRI and clinical characteristic of 7 patients diagnosed with BRRS

Patient No.SexAge at MRI (y)MacrocephalyMutation PTENDevelopmentPhysical FeaturesWM CystCyst Location
1M4YesYesAutisticAbdominal hemangiomaYesf,p,t
2M0.65YesYesDelayCafé au lait spot, thyroid nodules, testicular hamartomas, rectal and gastric polypsYesp
3M2.7YesNo proteinAutisticMotor speech disorderYesf,p
4M3.590th centileNo proteinDelayCafé au lait spotYesp
5M2.6YesNo proteinDelayMoles, thyroid nodules, intestinal polypsYesp
6M7.7YesNo proteinDelayMoles, thyroid nodules, intestinal polypsYesp
7M7.7YesYesDelayPigmentation of the glans penis, multiple thyroid nodules, and carcinomaYesf,p
  • Note:—f indicates frontal; p, parietal; t, temporal.