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Review Article
Neurology
Cognitive outcomes in late childhood and adolescence of neonatal hypoxic-ischemic encephalopathy
Bo Lyun Lee, Hannah C. Glass
Clin Exp Pediatr. 2021;64(12):608-618.   Published online May 24, 2021
∙ Cognitive impairments occur in children with hypoxic-ischemic encephalopathy (HIE) even without neuromotor deficits.
∙ Therapeutic hypothermia has improved neurodevelopmental outcomes of children with HIE; however, 40% of children remain at risk of death/disability or cognitive impairments necessitating the development of adjunctive neuroprotective therapies.
∙ Long-term follow-up until adolescence is required to identify cognitive dysfunction.
∙ A pattern of watershed injury on brain imaging is associated with poor cognitive outcomes.
Original Article
Neonatology (Perinatology)
Evaluation of the role of ischemia modified albumin in neonatal hypoxic-ischemic encephalopathy
Mohamed A. Talat, Rabab M. Saleh, Mohammed M. Shehab, Naglaa A. Khalifa, Maha Mahmoud Hamed Sakr, Walaa M. Elmesalamy
Clin Exp Pediatr. 2020;63(8):329-334.   Published online August 15, 2020
Question: What is the value of ischemia modified albumin (IMA) as a diagnostic marker for neonatal hypoxic-ischemic encephalopathy (HIE)?
Finding: IMA levels were significantly higher (nearly double elevation) in hypoxic than healthy newborns in the first few hours after birth in the full-term neonates.
Meaning: IMA can be a reliable marker for the early diagnosis of neonatal HIE and can be a predictor of injury severity.
Hypoxia-inducible factor: role in cell survival in superoxide dismutase overexpressing mice after neonatal hypoxia-ischemia
Ga Won Jeon, R. Ann Sheldon, Donna M Ferriero
Clin Exp Pediatr. 2019;62(12):444-449.   Published online October 18, 2019
Background: Sixty percent of infants with severe neonatal hypoxic-ischemic encephalopathy die, while most survivors have permanent disabilities. Treatment for neonatal hypoxic-ischemic encephalopathy is limited to therapeutic hypothermia, but it does not offer complete protection. Here, we investigated whether hypoxia-inducible factor (HIF) promotes cell survival and suggested neuroprotective strategies.
Purpose: HIF-1α-deficient mice have increased brain injury after neonatal hypoxia-ischemia (HI), and the...
Case Report
Gastroenterology
Intestinal duplication revealed by posterior reversible encephalopathy syndrome
Yosra Kerkeni, Hela Louati, Mourad Hamzaoui
Clin Exp Pediatr. 2018;61(4):132-134.   Published online April 23, 2018

We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst,...

Neurology
Mild encephalopathy with a reversible splenial lesion in a girl with acute pyelonephritis
Jung Sook Yeom, Chung Mo Koo, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2018;61(2):64-67.   Published online February 28, 2018

We report the case of a 12-year-old girl who had mild encephalopathy with a reversible splenial lesion (MERS) associated with acutepyelonephritis caused by Escherichia coli. The patient was admitted with a high fever, and she was diagnosed with acute pyelonephritis based on pyuria and the results of urine culture, which detected cefotaxime-sensitive E. coli. Although intravenous cefotaxime and tobramycin were...

Genetics and Metabolism
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Clin Exp Pediatr. 2017;60(12):408-412.   Published online December 22, 2017

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on...

Original Article
Neurology
Clinical characteristics of hypertensive encephalopathy in pediatric patients
Chang Hoon Ahn, Seung-A Han, Young Hwa Kong, Sun Jun Kim
Clin Exp Pediatr. 2017;60(8):266-271.   Published online August 14, 2017
Purpose

The aim of this study was to assess the clinical characteristics of hypertensive encephalopathy according to the underlying etiologies in children.

Methods

We retrospectively evaluated 33 pediatric patients who were diagnosed as having hypertensive encephalopathy in Chonbuk National University Children's Hospital. Among the patients, 18 were excluded because of incomplete data or because brain magnetic resonance imaging (MRI) was not performed. Finally,...

Case Report
Nephrology (Genitourinary)
Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
Ki Wuk Lee, Sang Taek Lee, Heeyeon Cho
Clin Exp Pediatr. 2016;59(Suppl 1):S145-S148.   Published online November 30, 2016

Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging. Inflammatory condition and severe hypertension in...

Review Article
Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes
Su-Kyeong Hwang, Soonhak Kwon
Clin Exp Pediatr. 2015;58(11):407-414.   Published online November 22, 2015

Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and...

Case Report
Wernicke's encephalopathy in a child with high dose thiamine therapy
So Won Park, Yoon Young Yi, Jung Woo Han, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang
Clin Exp Pediatr. 2014;57(11):496-499.   Published online November 30, 2014

Wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. It has been reported in individuals with alcohol dependence, hyperemesis gravidarum, and prolonged parenteral nutrition without vitamin supplementation. Here we present the case of a 13-year-old male patient with neuroblastoma and a history of poor oral intake and nausea for 3 months. After admission, he...

Original Article
Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea
Cha Gon Lee, Ji Hye Kim, Munhyang Lee, Jeehun Lee
Clin Exp Pediatr. 2014;57(6):264-270.   Published online June 30, 2014
Purpose

Acute necrotizing encephalopathy (ANE) is a fulminant disease of the brain characterized by bilateral thalamic lesions, and is prevalent among children in East Asia. The prognosis of ANE is usually poor with a high mortality rate and neurological sequelae. This study aimed to delineate the clinical characteristics and prognostic factors of ANE.

Methods

We retrospectively analyzed clinical data of 399 pediatric patients...

Case Report
X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(3):139-142.   Published online March 18, 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

A case of acute necrotizing encephalopathy associated with parainfluenza virus infection
Yoo-Na Kim, Su Jeong You
Clin Exp Pediatr. 2012;55(4):147-150.   Published online April 30, 2012

Acute necrotizing encephalopathy (ANE) may be suspected when a young child presents with abrupt onset of altered mental status, seizures, or both. Definitive clinical diagnosis is based on magnetic resonance imaging (MRI) results. ANE is associated with influenza virus infections. Preliminary data suggests that up to 25% of ANE patients die, and up to 25% of ANE survivors develop substantial...

A case of Hashimoto's encephalopathy presenting with seizures and psychosis
Min-Joo Lee, Hae-Sang Lee, Jin-Soon Hwang, Da-Eun Jung
Clin Exp Pediatr. 2012;55(3):111-113.   Published online March 16, 2012

Hashimoto's encephalopathy (HE) is a rare, poorly understood, autoimmune disease characterized by symptoms of acute or subacute encephalopathy associated with increased anti-thyroid antibody levels. Here, we report a case of a 14-year-old girl with HE and briefly review the literature. The patient presented with acute mental changes and seizures, but no evidence of infectious encephalitis. In the acute stage, the...

A case of tacrolimus-induced encephalopathy after kidney transplantation
Myoung Uk Kim, Sae Yoon Kim, Su Min Son, Yong Hoon Park
Clin Exp Pediatr. 2011;54(1):40-44.   Published online January 31, 2011

We present a case of tacrolimus-induced encephalopathy after successful kidney transplantation. An 11-year-old girl presented with sudden onset of neurologic symptoms, hypertension, and psychiatric symptoms, with normal kidney function, after kidney transplantation. The symptoms improved after cessation of tacrolimus. Magnetic resonance imaging (MRI) showed acute infarction of the middle cerebral artery (MCA) territory in the right frontal lobe. Three days...

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