Asociación síndrome de Down-esclerosis tuberosa y sus similitudes en la sobreactivación de las vías m-TOR. A propósito de un caso

Background

The association between Down syndrome and Tuberous sclerosis (DS/TS) had been very rarely described. These two entities present in common overactivation of m-TOR system (mammalian target of rapamycin), which has been related to abnormal neuronal growth, abnormal synaptic transduction and overstimulation of neurotransmitters in different brain areas, among others, that are manifested in cognitive retardation and autistic symptoms.

Case summary

We present a girl with diagnosis of DS who debuted one early childhood with convulsive tonic-clonic seizures and hypopigmented skin plaques. A brain MRI which reported cortical tubers suggestive of TS. A subsequent echocardiogram showed the presence of multiple lesions suggestive of endomyocardial rhabdomyomas. Further medical checks showed spontaneous resolution of these cardiac lesions, but persistence of brain disorders. We also describe the refractoriness of the convulsive events despite appropriate treatment with multiple anticonvulsants.

Conclusions

Neurological and cardiac implications in patients with DS/TS association dealing a difficult therapeutic stage high rate of complications, in part due to refractory symptomatic. New drugs directed towards the signaling pathway m-TOR could be very useful in this scenario, as it relates to improvement of cognitive impairment and tumors associated with these two entities.