Department of Neurology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, Massachusetts.
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, Massachusetts.
Pediatr Neurol. 2023 Jul;144:26-32. doi: 10.1016/j.pediatrneurol.2023.03.015. Epub 2023 Mar 29.
Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation and differentiation and results in epilepsy and other neurological manifestations. Head circumference (HC) as a proxy for brain volume may provide an easily tracked clinical measure of brain overgrowth and neurological disease burden. This study investigated the relationship between HC and epilepsy severity in infants with TSC.
Prospective multicenter observational study of children from birth to three years with TSC. Epilepsy data were collected from clinical history, and HC was collected at study visits at age three, six, nine, 12, 18, 24, and 36 months. Epilepsy severity was classified as no epilepsy, low epilepsy severity (one seizure type and one or two antiepileptic drugs [AEDs]), moderate epilepsy severity (either two to three seizure types and one to two AEDs or one seizure type and more than three AEDs), or high epilepsy severity (two to three seizure types and more than three AEDs).
As a group, children with TSC had HCs approximately 1 S.D. above the mean World Health Organization (WHO) reference by age one year and demonstrated more rapid growth than the normal population reference. Males with epilepsy had larger HCs than those without. Compared with the WHO reference population, infants with TSC and no epilepsy or low or moderate epilepsy had an increased early HC growth rate, whereas those with severe epilepsy had an early larger HC but did not have a faster growth rate.
Infants and young children with TSC have larger HCs than typical growth norms and have differing rates of head growth depending on the severity of epilepsy.
结节性硬化症（TSC）患者的大脑异常生长反映了细胞增殖和分化的异常，导致癫痫和其他神经表现。头围（HC）可作为大脑体积的替代指标，提供一种易于监测的临床指标，用于评估大脑过度生长和神经病变负担。本研究旨在探讨 TSC 婴儿 HC 与癫痫严重程度之间的关系。
前瞻性多中心研究纳入了从出生到三岁的 TSC 患儿。从临床病史中收集癫痫数据，在 3、6、9、12、18、24 和 36 个月的研究访视中收集 HC。癫痫严重程度分为无癫痫、低癫痫严重程度（一种癫痫发作类型和一种或两种抗癫痫药物[AED]）、中重度癫痫（两种至三种癫痫发作类型和一种至两种 AED 或一种癫痫发作类型和三种以上 AED）或高度癫痫（两种至三种癫痫发作类型和三种以上 AED）。
总体而言，TSC 患儿的 HC 在一岁时比世界卫生组织（WHO）参考平均值高出约 1 个标准差，且生长速度快于正常人群参考值。患有癫痫的男性 HC 大于无癫痫的男性。与 WHO 参考人群相比，无癫痫或低中度癫痫的 TSC 婴儿和幼儿的早期 HC 生长速度较快，而重度癫痫的婴儿早期 HC 较大，但生长速度并未加快。
TSC 婴儿和幼儿的 HC 大于典型生长标准，且癫痫严重程度不同，HC 生长速度也不同。
