- Review Article
- Neurology
- Myelin oligodendrocyte glycoprotein antibody-associated disorders: clinical spectrum, diagnostic evaluation, and treatment options
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Yun-Jin Lee, Sang Ook Nam, Ara Ko, JuHyun Kong, Shin Yun Byun
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Clin Exp Pediatr. 2021;64(3):103-110. Published online May 14, 2020
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MOG antibody-associated disorder exhibits different pathophysiological and phenotypic findings than both aquaporin-4 antibody-associated neuromyelitis optica spectrum disorder and typical MS. MOG-antibody is of particular interest in pediatric patients with clinical or radiological non-MS typical findings. MOG-antibody was included in a diagnostic algorithm for children recommending for the first time a standardized use in clinical practice except in cases of typical MS. |
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- Autoimmune encephalitis and epilepsy: evolving definition and clinical spectrum
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Joo Hee Seo, Yun-Jin Lee, Ki Hyeong Lee, Elakkat Gireesh, Holly Skinner, Michael Westerveld
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Clin Exp Pediatr. 2020;63(8):291-300. Published online August 16, 2019
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Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neuron-specific autoantibodies targeting intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis... |
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- Case Report
- Genetics and Metabolism
- The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
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Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
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Clin Exp Pediatr. 2017;60(12):408-412. Published online December 22, 2017
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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... |
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- Neurology
- A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
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Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
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Clin Exp Pediatr. 2016;59(Suppl 1):S32-S36. Published online November 30, 2016
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Joubert syndrome (JS) is characterized by the “molar tooth sign” (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral... |
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- Pulmonology
- Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
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Mi-Hye Bae, Yun-Jin Lee, Sang Ook Nam, Hye-Young Kim, Chang Won Kim, Young Mi Kim
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Clin Exp Pediatr. 2016;59(Suppl 1):S76-S79. Published online November 30, 2016
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Tracheoinnominate artery fistula is a rare, fatal complication of tracheostomy, and prompt diagnosis and management are imperative. We report the case of tracheoinnominate artery fistula after tracheostomy in a 14-year-old boy with a history of severe periventricular leukomalacia, hydrocephalus, cerebral palsy, and epilepsy. The tracheoinnominate artery fistula was successfully treated with a stent graft insertion via the right common femoral... |
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- Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia
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Yun-Jin Lee, Kee-Yang Chung, Hoon-Chul Kang, Heung Dong Kim, Joon Soo Lee
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Clin Exp Pediatr. 2015;58(9):354-357. Published online September 21, 2015
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Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the... |
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- Review Article
- Temporal lobe epilepsy surgery in children versus adults: from etiologies to outcomes
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Yun-Jin Lee, Joon Soo Lee
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Clin Exp Pediatr. 2013;56(7):275-281. Published online July 19, 2013
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Temporal lobe epilepsy (TLE) is the most common type of medically intractable epilepsy in adults and children, and mesial temporal sclerosis is the most common underlying cause of TLE. Unlike in the case of adults, TLE in infants and young children often has etiologies other than mesial temporal sclerosis, such as tumors, cortical dysplasia, trauma, and vascular malformations. Differences in... |
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- Case Report
- X-linked recessive myotubular myopathy with MTM1 mutations
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Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
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Clin Exp Pediatr. 2013;56(3):139-142. Published online March 18, 2013
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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... |
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- Moyamoya syndrome occurred in a girl with an inactive systemic lupus erythematosus
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Yun-Jin Lee, Gyu Min Yeon, Sang Ook Nam, Su Yung Kim
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Clin Exp Pediatr. 2013;56(12):545-549. Published online December 20, 2013
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We report the case of a 17-year-old Korean girl with systemic lupus erythematosus (SLE) who presented with sudden weakness of the right-sided extremities and dysarthria. Oral prednisolone was being taken to control SLE. Results of clinical and laboratory examinations did not show any evidence of antiphospholipid syndrome or thromboembolic disease nor SLE activity. Cerebral angiography showed stenosis of the left... |
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- Case Report
- A Case of Cytomegalovirus Colitis which Occurred During Treatment of Hemophagocytic Syndrome
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Sang-Nam Bae, Sung-Ryon Ahn, Yun-Jin Lee, Young-Tak Lim, Jae-Hong Park, Kyung-Un Choi, Chang-Hun Lee
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Clin Exp Pediatr. 2001;44(9):1075-1080. Published online September 15, 2001
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Cytomegalovirus(CMV) colitis is an important opportunistic infection in immunocompromised individuals.
The clinical symptoms are abdominal pain, diarrhea, colonic hemorrhage and perforation.
The endoscopic appearance shows three characteristic features with focal or diffuse inflammatory
changes, submucosal hemorrhagic spots, and well demarcated ulcers. We experienced a case of
CMV colitis in an 8-year-old girl presented with Stevens-Johnson syndrome, vanishing bile duct
syndrome and infection-associated hemophagocytic histiocytosis, which... |
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