Tuberous Sclerosis Complex in a 7-Year-Old Child

Authors

Keywords:

children; tuberous sclerosis complex; hamartoma.

Abstract

Introduction: Tuberous sclerosis complex is a genetically determined orphan disease that has a progressive course and leads to irreversible morphological changes in various organs and systems due to the formation of multiple benign tumors (hamartomas), including the brain, eyes, skin, heart, kidneys, liver, lungs, gastrointestinal tract, endocrine and skeletal systems.

Objective: To present the clinical course and treatment of tuberous sclerosis in a 7-year-old child.

Case Report: A girl born in 2018 from the 3rd pregnancy with a birth weight of 3500 g. At the age of 11 days, she was transferred to the neonatal pathology department with a diagnosis of: Space-occupying lesion of the brain. Venous sinus thrombosis. At the age of 1 month, during a magnetic resonance imaging: signs of tuberous sclerosis. Based on the results of the genetic examination, a variant of the nucleotide sequence of exon 6 of the TSC2 gene was detected. Sabril was introduced at 1 month 24 days of age. A brain magnetic resonance imaging (MRI) scan at 4 months showed tuberous sclerosis. Everolimus 4 mg/day was introduced at 8 months. MRI scan at 6 years showed tuberous sclerosis with numerous tubercles and white matter changes along the migration pathways of the cerebral hemispheres, including a small tuber in the left cerebellar hemisphere.

Conclusions: The above clinical case of tuberous sclerosis makes it possible to focus the attention of doctors of various specialties on the features of the clinic, diagnosis and treatment of this pathology.

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References

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Published

2026-04-21

How to Cite

1.
Belykh Anatolyevna N, Svirina Igorevna S, Zakharova Vladislavovna A, Piznyur Vladimirovna I. Tuberous Sclerosis Complex in a 7-Year-Old Child. Rev Cubana Pediatría [Internet]. 2026 Apr. 21 [cited 2026 Apr. 22];98. Available from: https://revpediatria.sld.cu/index.php/ped/article/view/7997

Issue

Vol. 98 (2026): publicación continua

Section

PEDIATRÍA

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Copyright (c) 2026 Natalia Belykh, Sofia Svirina, Anastasia Zakharova, Elena Ryaskova, Inna Piznyur, Yulia Deeva

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