|
KMID : 1039620220120010054
|
|
Korean Journal of Family Practice
2022 Volume.12 No. 1 p.54 ~ p.58
|
|
|
Everolimus Treatment and Follow-up in an Infant with Neurological Complication Associated with Tuberous Sclerosis Complex
|
|
Yeom Jeong-Mook
Jo Young-Min
Yu Seung-Taek
Lee Chang-Woo
|
|
|
Abstract
|
|
|
|
Tuberous sclerosis complex affects multiple organ systems and is caused by disinhibition of the mammalian target of rapamycin (mTOR) protein. Everolimus, an mTOR antagonist, is known to reduce the size of subependymal giant cell tumor, renal angiomyolipoma, and cardiac rhabdomyoma. We present the case of an infant with tuberous sclerosis complex. Her brain magnetic resonance imaging scans showed cortical tubers, subependymal nodules, and subependymal giant cell tumor at birth. She had neonatal seizure and severe developmental delay. After oral everolimus treatment, the tumor size was significantly reduced and the severity of seizures decreased. Her mental and motor function delay were improved, without any severe complications. Several mild complications that occurred during treatment, such as pneumonia, mild chronic sinusitis, and small oral ulcers, resolved with no additional problems. We report the successful treatment with everolimus for neurological complications of tuberous sclerosis complex in an infant and follow-up results for 5 years.
|
|
|
KEYWORD
|
|
|
Infant, Tuberous Sclerosis, Tuberous Sclerosis Complex, Astrocytoma, Subependymal Giant Cell Astrocytoma, Everolimus
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|