Triono Agung, Herini Elisabeth S, Iskandar Kristy, Hadiyanto Marissa L, Diantika Kania, Wijayanti Veronica W
Department of Child Health.
Genetics Working Group.
Ann Med Surg (Lond). 2023 Apr 3;85(5):2102-2107. doi: 10.1097/MS9.0000000000000489. eCollection 2023 May.
Tuberous sclerosis complex (TSC) is a neurocutaneous disease caused by a mutation in the or gene. There are several neuropsychiatric manifestations associated with TSC known as TSC-associated neuropsychiatric disorder (TAND). This article concerns neuropsychiatric manifestations in children with the gene mutation, with genetic analysis findings using whole-exome sequencing.
A 17-year-old girl presented with TSC, absence and focal epilepsy, borderline intellectual functioning, organic psychosis, and renal angiomyolipoma. She was emotionally unstable and preoccupied with irrelevant fears. In the physical examination, we found multiple hypomelanotic maculae, angiofibroma, and a shagreen patch. The intellectual assessment result with the Wechsler Adult Intelligence Scale at 17 was borderline intellectual functioning. Brain MRI showed cortical and subcortical tubers in the parietal and occipital lobes. Whole-exome sequencing was conducted, and the result was a missense mutation in exon 39 of the gene [NM_000548.5:c.5024C>T (NP_000539.2:p.Pro1675Leu)]. The Sanger sequencing of the patient's parents revealed no mutations in the TSC2 gene, confirming the patient's mutation. The patient was given several antiepileptic and antipsychotic drugs.
Neuropsychiatric manifestation is a common phenotype in the TSC variant, and psychosis is one of the rare TAND symptoms in children.
The neuropsychiatric phenotype and genotype in TSC patients are rarely reported and evaluated. We reported a female child with epilepsy, borderline intellectual functioning, and organic psychosis associated with a mutation of the gene. Organic psychosis is a rare symptom of TAND which also manifested in our patient.
结节性硬化症（TSC）是一种由TSC1或TSC2基因突变引起的神经皮肤疾病。有几种与TSC相关的神经精神表现，称为TSC相关神经精神障碍（TAND）。本文关注携带TSC2基因突变儿童的神经精神表现，并展示了使用全外显子组测序的基因分析结果。
一名17岁女孩患有TSC、失神发作和局灶性癫痫、边缘智力功能、器质性精神病和肾血管平滑肌脂肪瘤。她情绪不稳定，沉迷于无端恐惧。体格检查时，我们发现了多处色素减退斑、血管纤维瘤和鲨革斑。17岁时使用韦氏成人智力量表进行的智力评估结果为边缘智力功能。脑部MRI显示顶叶和枕叶有皮质和皮质下结节。进行了全外显子组测序，结果是TSC2基因第39外显子的错义突变[NM_000548.5:c.5024C>T (NP_000539.2:p.Pro1675Leu)]。对患者父母进行的Sanger测序显示TSC2基因无突变，证实了患者的TSC2突变。该患者接受了多种抗癫痫和抗精神病药物治疗。
神经精神表现是TSC变异型的常见表型，而精神病是儿童罕见的TAND症状之一。
TSC患者的神经精神表型和基因型很少被报道和评估。我们报告了一名患有癫痫、边缘智力功能和与TSC2基因突变相关的器质性精神病的女童。器质性精神病是TAND的一种罕见症状，在我们的患者中也有表现。
