• Journal of Korean Neurosurgical Society
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• v.61 no.3
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• pp.302-311
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• 2018

Atypical teratoid rhabdoid tumours (ATRTs) are the most common malignant central nervous system tumours in children ${\leq}1year$ of age and represent approximately 1-2% of all pediatric brain tumours. ATRT is a primarily monogenic disease characterized by the bi-allelic loss of the SMARCB1 gene, which encodes the hSNF5 subunit of the SWI/SNF chromatin remodeling complex. Though conventional dose chemotherapy is not effective in most ATRT patients, high dose chemotherapy with autologous stem cell transplant, radiotherapy and/or intrathecal chemotherapy all show significant potential to improve patient survival. Recent epigenetic and transcriptional studies highlight three subgroups of ATRT, each with distinct clinical and molecular characteristics with corresponding therapeutic sensitivities, including epigenetic targeting, and inhibition of tyrosine kinases or growth/lineage specific pathways.

• Korean Journal of Radiology
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• v.2 no.3
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• pp.171-174
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• 2001

Shaken baby syndrome (SBS) is a form of child abuse that can cause significant head injuries, of which subdural hematoma (SDH) is the most common manifestation. We report the MRI findings of chronic SDH in three cases of SBS, involving two-, three- and eight-month-old babies. The SDH signal was mostly low on T1-weighted images and high on T2-weighted images, suggesting chronic SDH. In chronic SDH, a focal high signal on T1-weighted images was also noted, suggesting rebleeding. Contrast-enhanced MRI revealed diffuse dural enhancement.

• Journal of Korean Neurosurgical Society
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• v.52 no.4
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• pp.417-419
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• 2012

Tumors of the central nervous system are common in the pediatric population and constitute the second most prevalent tumor type in children. Within this group, spinal cord tumors are relatively rare and account for 1 to 10% of all pediatric central nervous system tumors. We describe a very rare case of an intradural extramedullary spinal cord tumor with a subcutaneous mass and discuss its clinical presentation, pathogenesis, and treatment. A male infant was delivered normally, with uneventful development. At 16 days post-delivery, his family took him to a pediatrician because of a mass on his upper back. Magnetic resonance imaging of the thoracic spine revealed a well-demarcated soft-tissue mass with central cystic change or necrosis at the subcutaneous layer of the posterior back (T2-7 level). Another mass was found with a fat component at the spinal canal of the T1-3 level, which was intradural extramedullary space. After six weeks, the spinal cord tumor and subcutaneous mass were grossly total resected; pathologic findings indicated an atypical myxoid spindle cell neoplasm, possibly nerve sheath in type. The final diagnosis of the mass was an atypical myxoid spindle cell neoplasm. The postoperative course was uneventful, and the patient was discharged after nine days without any neurological deficit. We report a rare case of an intradural extramedullary spinal tumor with subcutaneous mass in a neonate. It is necessary to monitor the patient's status by examining consecutive radiologic images, and the symptoms and neurological changes should be observed strictly during long-term follow-up.

• Clinical and Experimental Pediatrics
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• v.62 no.3
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• pp.108-112
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• 2019

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal central nervous system disorder resulting from persistent measles virus infection. Long-term data are scarce, with a maximum follow-up period of 10 years. Interferon-alpha ($IFN-{\alpha}$) is a protein that exerts its antiviral activity via enhancement of cellular immune response and is reported to be an effective drug for the treatment of SSPE. However, there is currently no consensus regarding the optimal duration of $IFN-{\alpha}$ therapy. Here, we present a case report of a patient with SSPE treated with long-term intraventricular $IFN-{\alpha}$ therapy, which facilitated clinical improvement and neurological stabilization without causing serious adverse effects. To the best of our knowledge, this is one of the longest follow-up studies investigating a patient with SSPE receiving intraventricular $IFN-{\alpha}$ treatment. Further studies are necessary to validate the benefits and safety of long-term intraventricular $IFN-{\alpha}$ treatment in patients with SSPE.

• Journal of Audiology & Otology
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• v.24 no.3
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• pp.133-139
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• 2020

Background and Objectives: The Gaps-In-Noise (GIN) test is a clinically effective measure of the integrity of the central auditory nervous system. The GIN procedure can be applied to a pediatric population above 7 years of age. The present study conducted the GIN test to compare the abilities of auditory temporal resolution among typically developing children, children with speech sound disorder (SSD), and children with cognitive difficulty (CD). Subjects and Methods: Children aged 8 to 11 years-(total n=30) participated in this study. There were 10 children in each of the following three groups: typically developing children, children with SSD, and children with CD. The Urimal Test of Articulation and Phonology was conducted as a clinical assessment of the children's articulation and phonology. The Korean version of the Wechsler Intelligence Scale for Children-III (K-WISC-III) was administered as a screening test for general cognitive function. According to the procedure of Musiek, the pre-recorded stimuli of the GIN test were presented at 50 dB SL. The results were scored by the approximated threshold and the overall percent correct score (%). Results: All the typically developing children had normal auditory temporal resolution based on the clinical cutoff criteria of the GIN test. The children with SSD or CD had significantly reduced gap detection performance compared to age-matched typically developing children. The children's intelligence score measured by the K-WISC-III test explained 37% of the variance in the percent-correct score. Conclusions: Children with SSD or CD exhibited poorer ability to resolve rapid temporal acoustic cues over time compared to the age-matched typically developing children. The ability to detect a brief temporal gap embedded in a stimulus may be related to the general cognitive ability or phonological processing.

• Korean Journal of Audiology
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• v.24 no.3
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• pp.133-139
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• 2020

Background and Objectives: The Gaps-In-Noise (GIN) test is a clinically effective measure of the integrity of the central auditory nervous system. The GIN procedure can be applied to a pediatric population above 7 years of age. The present study conducted the GIN test to compare the abilities of auditory temporal resolution among typically developing children, children with speech sound disorder (SSD), and children with cognitive difficulty (CD). Subjects and Methods: Children aged 8 to 11 years-(total n=30) participated in this study. There were 10 children in each of the following three groups: typically developing children, children with SSD, and children with CD. The Urimal Test of Articulation and Phonology was conducted as a clinical assessment of the children's articulation and phonology. The Korean version of the Wechsler Intelligence Scale for Children-III (K-WISC-III) was administered as a screening test for general cognitive function. According to the procedure of Musiek, the pre-recorded stimuli of the GIN test were presented at 50 dB SL. The results were scored by the approximated threshold and the overall percent correct score (%). Results: All the typically developing children had normal auditory temporal resolution based on the clinical cutoff criteria of the GIN test. The children with SSD or CD had significantly reduced gap detection performance compared to age-matched typically developing children. The children's intelligence score measured by the K-WISC-III test explained 37% of the variance in the percent-correct score. Conclusions: Children with SSD or CD exhibited poorer ability to resolve rapid temporal acoustic cues over time compared to the age-matched typically developing children. The ability to detect a brief temporal gap embedded in a stimulus may be related to the general cognitive ability or phonological processing.

• Pediatric Infection and Vaccine
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• v.23 no.3
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• pp.165-171
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• 2016

Purpose: Human parechovirus (HPeV) is an increasingly recognized pathogenic cause of central nervous system (CNS) infection in neonates. However, HPeV infections have not been studied in older children. This study determined the prevalence and clinical features of HPeV CNS infection in children in Korea. Methods: Reverse transcription polymerase chain reaction assays were performed using HPeV-specific, 5' untranslated, region-targeted primers to detect HPeV in cerebrospinal fluid (CSF) samples from children presenting with fever or neurologic symptoms from January 1, 2013, to July 31, 2014. HPeV genotyping was performed by sequencing the viral protein 3/1 region. Clinical and laboratory data were retrospectively abstracted from medical records and compared with those of enterovirus (EV)-positive patients from the same period. Results: Of 102 CSF samples, six (5.9%) were positive for HPeV; two of 21 EV-positive samples were co-infected with HPeV. All samples were genotype HPeV3. Two HPeV-positive patients were <3 months of age and four others were over 1 year old. While HPeV-positive infants under 1 year of age presented with sepsis-like illness without definite neurologic abnormalities, HPeV-positive children over 1 year of age presented with fever and neurologic symptoms such as seizures, loss of consciousness, and gait disturbance. The CSF findings of HPeV-positive patients were mostly within the normal range, whereas most (73.7%) EV-positive patients had pleocytosis. Conclusions: Although HPeV is typically associated with disease in young infants, the results of this study suggest that HPeV is an emerging pathogen of CNS infection with neurologic symptoms in older childhood.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.358-361
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• 2015

Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, splenomegaly, jaundice, and pathologic findings of hemophagocytosis in bone marrow or other tissues such as the lymph nodes and liver. Pleocytosis, or the presence of elevated protein levels in cerebrospinal fluid, could be helpful in diagnosing HLH. However, the pathologic diagnosis of the brain is not included in the diagnostic criteria for this condition. In the present report, we describe the case of a patient diagnosed with HLH, in whom the brain pathology, but not the bone marrow pathology, showed hemophagocytosis. As the diagnosis of HLH is difficult in many cases, a high level of suspicion is required. Moreover, the pathologic diagnosis of organs other than the bone marrow, liver, and lymph nodes may be a useful alternative.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.22 no.4
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• pp.302-306
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• 2011

Objectives : To investigate the cognitive functions of pediatric cancer patients and to test the hypotheses that the impairment of processing speed and working memory are more prevalent in children with medulloblastoma (MBL) compared to children with neuroblastoma (NBL). Methods : We gave the Korean version of the Wechsler Intelligent Scale for Children-III to 21 children with MBL and 24 children with NBL during outpatient follow-up after the treatment was completed. Results : Children with MBL showed below average performance across most of the sub-tests. The full scale IQ, verbal IQ, and performance IQ of children with MBL were significantly lower than those of children with NBL. There were significant differences between two groups in coding and Digit Span subtest scores. Children with MBL performed especially poorly in the coding subtest. Conclusion : These findings support previous reports of generally low IQ and the dysfunction of processing speed and working memory among children with MBL, a kind of central nervous system tumor. Further investigation is needed to determine how the deficit of processing speed and working memory affect neurocognitive development and general intelligent functions.