A clinical case of tuberous sclerosis in a child

Tuberous sclerosis is a rare genetic disorder that causes benign tumors in various organs and tissues. Tuberous sclerosis is an autosomal dominant disorder caused by mutations in the TSC1 gene (#OMIM 605284) on chromosome 9q34, which encodes the protein hamartin, and the TSC2 gene (#OMIM 191092) on chromosome 16p13.3, which encodes tuberin. This article presents a clinical case of a boy diagnosed with tuberous sclerosis. The boy was born in 2013 and was 12 years old at the time of his last hospitalization. Cardiac rhabdomyomas were diagnosed in utero. Psychomotor and speech developmental delays have been observed since birth. Infantile spasms were noted at an early age, and drug-resistant epilepsy was diagnosed. The diagnosis of tuberous sclerosis was confirmed genetically and clinically. A family history of tuberous sclerosis includes a mother and younger brother; the family has five children. A genetic blood test in 2022 revealed a heterozygous deletion of three nucleotides in the TSC2 gene (NM_000548: exon 15: c.1595_1597del: p.F532fs), which, according to the ClinVar database, is classified as a pathogenic mutation leading to a frameshift and loss of function of the tuberin protein. This mutation is associated with the development of TS and explains the multisystem manifestations. The patient is receiving antiepileptic and targeted therapy. Stereotactic surgery was also performed. Following surgery, seizures became significantly less frequent: atonic-astatic seizures ceased, pseudo-absences occur up to five times per month, and tonic-clonic seizures occur up to twice per month.

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