• 대한한의학회지
• /
• 제36권2호
• /
• pp.50-55
• /
• 2015

Infants with tuberous sclerosis complex (TSC) have a higher chance of experiencing seizures before the age of 1 year; in particular, they commonly accompany infantile spasms. In cases where infantile spasms resulting from TSC are drug-resistant, more severe neuro-developmental and cognitive impairments occur. This particular case dealt with an infant with TSC who continued to experience partial seizures and infantile spasms despite using two different kinds of antiepileptic drugs (AEDs). His spasms ceased on the seventh day of taking modified Yukmijihwang-tang (YMJ), at which point he stopped the use of all AEDs. He became seizure-free after a month of the treatment and modified hypsarrythmia was found to have been resolved in the electroencephalogram test. Until now, the infant has been taking YMJ for 16 months and is maintaining the seizure-free state without side effects. Moreover, his developmental status is continually improving, with a significant progress in language and cognitive-adaptive abilities. Such results suggest that YMJ can serve as an alternative treatment option for refractory epilepsy.

• Journal of Genetic Medicine
• /
• 제13권1호
• /
• pp.36-40
• /
• 2016

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.