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홈 > 간행물 권호
  • 발행기관: 대한소아신경학회
  • 간행물:
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Annals of Child Neurology

  • 발행기관 : 대한소아신경학회(Korean Child Neurology Society)
  • 출처구분 : 학회
  • 간행물유형 : 학술저널
  • 발행주기 : 계간 (발행월:3,6,9,12)
  • Print ISSN : 1226-6884
  • Online ISSN : 2383-8973
Annals of Child Neurology
검색결과 =
7
Deep Phenotyping in 1p36 Deletion Syndrome
Deep Phenotyping in 1p36 Deletion Syndrome
Youngkyu Shim;Young Jun Go;Soo Yeon Kim;Hunmin Kim;Hee Hwang;Jieun Choi;Byung Chan Lim;Ki Joong Kim;Jong-Hee Chae
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 131-137 (7 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학
초록보기
Purpose: Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to characterize the phenotype-genotype correlation. Methods: We retrospectively reviewed 15 patients diagnosed with 1p36 deletion syndrome confirmed by chromosomal microarray. Results: All 15 patients revealed delayed attainment of motor milestones and speech. Seven patients (46.7%) never walked alone and only two (13.3%) could express a simple two-word sentence. They all showed subsequent intellectual disability. Two patients with large deletions of both distal and proximal critical regions of the 1p36 region shared severe intellectual disability with Rett syndrome-like behavioral features. Seizures, although frequent (73.3%), were well-controlled except in one patient with infantile spasms. Facial dysmorphism (92.9%) and ventricular mild dilatation with corpus callosum anomaly (46.7%) were common. Heart problems were identified in 14 patients, including structural abnormalities and/or functional problems associated with the gene encoding PR domain-containing protein 16. Two patients developed severe cardiac dysfunction requiring heart transplantation in their late teens. One patient with a 400 Kb deletion partly overlapping with the gene encoding calmodulin-binding transcription activator 1 did not have facial dysmorphism and presented with mild developmental delay and ataxic gait. One patient had a choledochal cyst, which was resected due to neonatal cholestasis. Conclusion: Although the phenotype of 1p36 deletion syndrome is quite consistent with previous reports, additional manifestations such as certain behavioral features, ataxic gait, and severe cardiac dysfunction at an early age should be considered.
Serum Uric Acid as a Predictive Factor for Rotaviral or Noroviral Benign Convulsions with Mild Gastroenteritis
Serum Uric Acid as a Predictive Factor for Rotaviral or Noroviral Benign Convulsions with Mild Gastroenteritis
Si Yoon Yoo;Dong Hyun Kim;Yeongseok Lee;Ga Hee Lee;Dong Jun Ha;Young Se Kwon
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 138-144 (7 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학
초록보기
Purpose: This study investigated the relationship between serum uric acid levels and benign convulsions with mild gastroenteritis (CwG) caused by rotavirus and norovirus. Methods: This retrospective study identified 89 patients with CwG at Inha University Hospital from January 1999 to December 2019. We analyzed serum uric acid levels in patients with CwG and in patients with acute gastroenteritis without seizures according to the causative virus. Results: Among the 2,790 patients with rotavirus or norovirus gastroenteritis, 89 patients (3.2%) were diagnosed with CwG. The serum uric acid levels were significantly higher in CwG patients than in acute gastroenteritis patients (8.20±2.34 mg/dL vs. 5.44±2.69 mg/dL, P<0.001). When examined according to the virus type, serum uric acid levels were higher in the CwG group than in the acute gastroenteritis group in patients with rotavirus (8.05±2.48 mg/dL vs. 5.48±2.78 mg/dL) and norovirus (8.43±2.13 mg/dL vs. 5.31±2.36 mg/dL) infections (P<0.001). However, there were no significant differences in uric acid levels between patients with CwG caused by rotavirus and those with CwG caused by norovirus. Conclusion: Patients with CwG, caused either by rotavirus or norovirus, showed significantly higher serum uric acid levels than those with acute gastroenteritis without seizures. Elevated serum uric acid levels could be a useful indicator for diagnosing CwG.
Effectiveness of Intravenous Immunoglobulin Therapy for Pediatric Viral Encephalitis
Effectiveness of Intravenous Immunoglobulin Therapy for Pediatric Viral Encephalitis
Ji Eun Byun;Kyung Yeon Lee
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 145-155 (11 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학
초록보기
Purpose: Intravenous immunoglobulin (IVIg) is considered as a first-line therapy for autoimmune encephalitis. However, its effectiveness in viral encephalitis has yet to be evaluated. Therefore, we investigated the effectiveness of IVIg therapy for pediatric viral encephalitis. Methods: We retrospectively reviewed the records of 35 pediatric patients who were hospitalized with confirmed or suspected viral encephalitis. Twenty patients (57.1%) were treated with IVIg in conjunction with conventional therapy (IVIg-treated group), and 15 patients (42.9%) were treated with conventional therapy (non-IVIg-treated group). We compared the clinical characteristics of the groups at admission and their clinical outcomes. Results: Compared to the non-IVIg-treated group, the IVIg-treated group had more critical clinical features at admission, with a lower score on the pediatric Glasgow Coma Scale (mean±standard deviation, 9.1±2.3 vs. 10.8±2.7, P=0.025), longer fever duration (3.5±2.2 days vs. 1.8±1.1 days, P=0.022), and higher incidence of magnetic resonance imaging abnormalities (14/19 [73.7%] vs. 3/15 [20.0%], P=0.002). Nevertheless, the clinical outcomes of the IVIg-treated group were comparable to those of the non-IVIg-treated group in terms of mortality rate (1/20 [5.0%] vs. 0/15 [0%]), neurological deficits at discharge (2/20 [10.0%] vs. 1/15 [6.7%]), and occurrence of epilepsy (5/20 [25.0%] vs. 2/15 [13.3%]). Fourteen (70.0%) and 13 (85.7%) patients in the IVIg-treated and the non-IVIg-treated groups, respectively, achieved complete recovery without any neurological complications. Conclusion: IVIg may be considered as a potential immunomodulating agent when treating critical pediatric viral encephalitis to improve neuropsychological outcomes.
A Case of Extensive Cerebral Sinovenous Thrombosis Resulting from Neonatal Diabetes Mellitus
A Case of Extensive Cerebral Sinovenous Thrombosis Resulting from Neonatal Diabetes Mellitus
Chaeri Yoo;Seonkyeong Rhie;Eun-Gyong Yoo;Hye Jeong Choi;Kyu Young Chae;Mo Kyung Jung
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 156-159 (4 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학
Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of SLC52A1
Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of SLC52A1
Urim Kang;Da Hae Yang;Sang Ook Nam;Yun-Jin Lee;Gyu Min Yeon
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 160-163 (4 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학
Cranial Bruits Associated with Internal Carotid Artery Stenosis Due to Focal Arterial Dissection in an Infant
Cranial Bruits Associated with Internal Carotid Artery Stenosis Due to Focal Arterial Dissection in an Infant
Kyo Un Cho;Sun Jun Kim
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 164-166 (3 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학
Metopic Craniosynostosis and Hydrocephalus in a Premature Opioid Dependent Baby
Metopic Craniosynostosis and Hydrocephalus in a Premature Opioid Dependent Baby
Trissa Paul;Sarabjot Singh Makkar;Saraswathi Mohan;Petaiah Mohan
대한소아신경학회 / 대한소아신경학회지 제28권 제4호 / 2020 / 167-168 (2 pages)
의약학>소아과학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 소아과학