Table 1.
Age | Female, 8 years |
Age at onset of ASD | 6 years |
MRI or echo | (i) AML on bilateral kidneys |
(ii) SEN left on the anterior horn of lateral ventricle | |
ASD features | (i) Impaired communication |
(ii) Wrapping up doll play with repeated finger-sucking. | |
ADI-R score | ADI-R |
Reciprocal interaction: 21 | |
Communication: 19 | |
Repetitive behaviors: 13 | |
Total scores of SRS and ABC | SRS: 50 |
ABC: 107 | |
WISC IQ | 67 |
Everolimus doses | 2.5 mg/day for 24 weeks |
Results | ABC score: 50% decrease |
SRS score: 26% decrease | |
Social response and repetitive behaviors were improved | |
Serum levels of Tf and Cp | Serum Cp and Tf levels increased from baseline to 24 weeks of treatment in accordance with symptom improvement |
Serum levels of TP, ox-LDL, and creatine | Serum TAP levels showed trend toward opposite decreased ABC scores |
Serum creatine levels showed no definite alteration |
AML: angiomyolipomas; SEN: subependymal nodule; ADI-R; Autism Diagnostic Interview-Revised; ABC: Aberrant Behavior Checklist; SRS: Social Responsiveness Scale; Cp: ceruloplasmin; Tf: transferrin; TAP: total antioxidant power; ox-LDL: oxidized low-density lipoprotein.