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A Patient with Tuberous Sclerosis with Hemimegalencephaly Presenting with Intractable Epilepsy in the Early Neonatal Period: A Case Report

Authors
 Sungbo Shim  ;  Jeong Eun Shin  ;  Soo Min Lee  ;  Seung Hwan Baek  ;  Joon-Sik Park  ;  Jung Ho Han  ;  Min Soo Park  ;  Hoon-Chul Kang  ;  Eun Kyung Park  ;  Ho Seon Eun 
Citation
 Perinatology, Vol.33(4) : 201-207, 2022-12 
Journal Title
Perinatology
ISSN
 2508-4887 
Issue Date
2022-12
Keywords
Tuberous sclerosis ; Hemimegalencephaly ; Epilepsy ; mTORpathy
Abstract
Hemimegalencephaly (HME) is a rare disease characterized by partial or complete hypertrophy of one cerebral hemisphere. It is associated with intractable seizures, developmental delay, hemiparesis, and other neurological symptoms. Tuberous sclerosis (TSC) is a neurocutaneous syndrome that affects various organs, including the heart, brain, skin, kidney, and eyes, and is caused by mutations in TSC1 and TSC2 genes. Herein, we report the case of a patient with TSC and HME who required early neurosurgical treatment during the neonatal period. A full-term girl was suspected to have TSC prenatally because of left ventriculomegaly and cardiac masses on fetal ultrasonography. HME was confirmed by postnatal neuroimaging studies. Multiple rhabdomyomas and renal cysts were compatible with TSC. Serially performed electroencephalography (EEG) showed intractable electrical seizures in the left hemisphere with secondary generalization, despite rare clinical convulsions. As anti-epileptic drugs did not improve electrical seizures, corpus callosotomy was performed at 39 days of age. Postoperatively, the frequency of secondary generalization of seizures was significantly reduced on EEG. A novel frameshift mutation in c. 1743_1744insCAAGG (p. Thr582GlnfsTer49) in the TSC1 gene was confirmed using targeted next-generation sequencing.
Files in This Item:
T9992022748.pdf Download
DOI
10.14734/PN.2022.33.4.201
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Park, Eun Kyung(박은경)
Park, Joon Sik(박준식) ORCID logo https://orcid.org/0000-0002-4902-4770
Baek, Seung Hwan(백승환)
Shin, Jeong Eun(신정은) ORCID logo https://orcid.org/0000-0002-4376-8541
Shim, Sungbo(심성보)
Eun, Ho Seon(은호선) ORCID logo https://orcid.org/0000-0001-7212-0341
Lee, Su Min(이수민)
Han, Jung Ho(한정호) ORCID logo https://orcid.org/0000-0001-6661-8127
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/193968
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