Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation

Table 1 Evaluations for TSC diagnosis

Organ system	Diagnostic evaluations	Findings
Brain	Brain MRI	Multiple cortical tubers, subependymal nodules and a SEGA
	EEG	Runs of spikes in right fronto-polar region
	DDST-II	Delayed development in areas of fine motor-adaptive, personal-social, and language skills by 25 months on average
	WPPSI-III	Could not get a score in any subtest
	CARS	35.5
	SMS	Social age: 22 months
	SMS	Social quotient: 49.8
	Speech and language evaluation	Delayed by 27 months in receptive and expressive language
Eyes	Complete ophthalmologic evaluation including dilated fundoscopy	Unremarkable
Teeth	Detailed dental exam	Unremarkable
Skin	Detailed skin exam	Scattered hypopigmented lesions
Heart	Ultrasonography	Small muscular ventricular septal defect (VSD) in the middle portion of the interventricular septum (IVS), No rhabdomyoma
	ECG	Normal
Lung	HRCT of chest	No lymphangioleiomyomatosis (LAM)
Kidney	Blood pressure	Normal
	Abdominal MRI	No angiomyolipoma or renal cyst
	GFR test	Normal

ISSN: 1756-6606