Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report.
Childs Nerv Syst
; 37(12): 3897-3899, 2021 12.
Article
en En
| MEDLINE
| ID: mdl-34008055
ABSTRACT
INTRODUCTION:
The association between cardiac rhabdomyoma and intraventricular tumors and/or subcortical nodules is characteristic of tuberous sclerosis complex (TSC). Patients with TSC may have refractory seizures, autistic behavior, and cognitive decline. CASE REPORT The patient received the fetal diagnosis of TSC at the age of 19 weeks of gestations, where presented at prenatal ultrasound cardiac and brain tumors. Fetal MRI showed a lesion in the right and left lateral ventricles near the foramen of Monro associated with subependymal lesions along the entire ependyma of the lateral ventricles and several subcortical tubercles, and the fetal Doppler echocardiogram revealed three cardiac lesions. The fetus underwent intrauterine treatment with everolimus and presented regression and subsequent stabilization of the cardiac and brain lesions; additionally, the patient did not develop seizures or autism and presented good neuropsychomotor development.CONCLUSION:
It is the first evidence that mTOR inhibitors may help to prevent neurological complications associated with TSC.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Rabdomioma
/
Esclerosis Tuberosa
/
Neoplasias Cardíacas
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
/
Pregnancy
Idioma:
En
Revista:
Childs Nerv Syst
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Brasil