BMC neurology · 2026
Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Wilson Sarah Ml, Samuels Megan, Pimentel Luana, Varnado Shelley, Sartwell Claire, Mansour Rosleen, Pearson Deborah, Northrup Hope, Koenig Mary Kay
Аннотация
OBJECTIVES: To report early neurodevelopmental outcomes in a child with Tuberous Sclerosis Complex (TSC) treated with everolimus and vigabatrin.
METHODS: The authors report a five-year-old girl with Tuberous Sclerosis Complex who was initiated on vigabatrin at seven weeks old to treat infantile spasms and on everolimus at two months of age to treat a subependymal giant cell astrocytoma. Neuropsychological assessments were conducted in this patient at 12, 24, and 36 months using the Bayley-III and Vineland-II.
RESULTS: On the Bayley-III, the patient had a high average cognitive composite score at 12 months and a high average language composite score at 36 months. Bayley-III assessments at 12, 24, and 36 months, yielded average cognitive, language, and motor composite scores. On the Vineland-II at 12 months, her standard score fell in the moderately low range on daily living skills and overall adaptive behavior. Vineland-II assessments at 12, 24, and 36 months yielded average range standard scores in the areas of communication, socialization, daily living skills, overall adaptive behavior, and motor skills.
DISCUSSION: This case highlights early neurodevelopmental outcomes in one TSC child treated with everolimus and vigabatrin in infancy. Continued assessment and longitudinal follow-up is required to understand the broader implications of early treatment with mTOR inhibitors and vigabatrin in TSC patients in childhood.
METHODS: The authors report a five-year-old girl with Tuberous Sclerosis Complex who was initiated on vigabatrin at seven weeks old to treat infantile spasms and on everolimus at two months of age to treat a subependymal giant cell astrocytoma. Neuropsychological assessments were conducted in this patient at 12, 24, and 36 months using the Bayley-III and Vineland-II.
RESULTS: On the Bayley-III, the patient had a high average cognitive composite score at 12 months and a high average language composite score at 36 months. Bayley-III assessments at 12, 24, and 36 months, yielded average cognitive, language, and motor composite scores. On the Vineland-II at 12 months, her standard score fell in the moderately low range on daily living skills and overall adaptive behavior. Vineland-II assessments at 12, 24, and 36 months yielded average range standard scores in the areas of communication, socialization, daily living skills, overall adaptive behavior, and motor skills.
DISCUSSION: This case highlights early neurodevelopmental outcomes in one TSC child treated with everolimus and vigabatrin in infancy. Continued assessment and longitudinal follow-up is required to understand the broader implications of early treatment with mTOR inhibitors and vigabatrin in TSC patients in childhood.