• Neonatal Medicine
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• v.15 no.2
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• pp.200-206
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• 2008

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.1044-1046
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• 2003

Craniofrontonasal dysplasia(CFND), a rare congenital syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities. It was first reported by Cohen in 1979. The inheritance pattern is not straightforward. Although all modes of Mendelian inheritance have been suggested, the most plausible explanation is that this is an X-linked condition with the unusual situation of complete expression in females, and minimal to no expression in males. In our case, CFND was diagnosed in a female neonate who had unilateral coronal craniosynostosis, frontal bossing, orbital hypertelorism, broad nasal root, clefting nasal tip, corpus callosum agenesis and mild extremity abnormalities.

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.372-374
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• 2018

• Pediatric Infection and Vaccine
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• v.22 no.1
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• pp.40-44
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• 2015

Cases of incomplete Kawasaki disease (KD), wherein the patient does not fulfill the full diagnostic criteria for KD, are often detected in infants younger than 6 months of age. The clinical manifestations in infants with incomplete KD may resemble other infectious diseases, including meningitis. For this reason, clinicians may have difficulty differentiating incomplete KD from other infectious diseases in this population. Various neurological features are associated with KD, including aseptic meningitis, subdural effusion, facial nerve palsy, cerebral infarction, encephalopathy, and reversible corpus callosum splenial lesions on magnetic resonance imaging. We report a case of a 5-month-old girl with incomplete KD, associated with cerebrospinal fluid pleocytosis and an epidural fluid collection. Echocardiography indicated dilatation of the main coronary arteries. The girl made a complete recovery, with resolution of both the epidural fluid collection and coronary artery aneurysms. In this case, the child is well, and showed normal developmental milestones at the 7-month follow-up.

• Journal of Biomedical Engineering Research
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• v.23 no.1
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• pp.39-47
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• 2002

The objective of this study is to provide a Precise form of spatial normalization with affine transformation. The quantitative comparison of the brain architecture across different subjects requires a common coordinate system. For the common coordinate system, not only global brain but also a local region of interest should be spatially normalized. Registration using mutual information generally matches the whose brain well. However. a region of interest may not be normalized compared to the feature-based methods with the landmarks. The hybrid method of this Paper utilizes feature information of the local region as well as intensity similarity. Central gray nuclei of a brain including copus callosum, which is used for feature in Schizophrenia detection, is appropriately normalized by the hybrid method. In the results section. our method is compared with mutual information only method and Talairach mapping with schizophrenia Patients. and is shown how it accurately normalizes feature .

• The Journal of Internal Korean Medicine
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• v.27 no.3
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• pp.762-769
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• 2006

A callosal disconnection syndrome results in the functional independence of each hemisphere caused by ACA infarction, head injury or callosal operation for epilepsy. Clinical features are characterized by left unilateral tactile anomia, left unilateral agraphia, left unilateral apraxia, difficulty in copying drawings, dyscalculia and alien hand syndrome. Taeumchowe-tang(太陰調胃湯) is used to treat Taeumin(太陰人) Wewansuhanpyohanbyung(胃脘受寒表寒病). A 47 year-old man, following callosal infarction, was detected on MRI with left agraphia, dyscalculia and alien hand syndrome, but no left ideomotor apraxia or left apraxia. He was treated with Taeumchowe-tang. Significant improvement of clinical symptoms was seen, so it is here reported.

• Pediatric Infection and Vaccine
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• v.25 no.1
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• pp.45-49
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• 2018

Group B streptococcus (GBS) is the leading cause of neonatal morbidity and mortality. Late-onset GBS disease commonly manifests as occult bacteremia or meningitis. Approximately 50% of survivors of late-onset meningitis have long-term neurologic sequelae. Cerebrovascular complications are often associated with unfavorable clinical outcomes of GBS meningitis. There have been a few reports of cerebral infarction accompanied by GBS meningitis. We report a 29-day-old girl with severe, widespread cerebral infarction due to late-onset GBS meningitis. Isolated GBS strain from this patient was serotype III, ST-19. Currently, she has cortical blindness and significant developmental delay.

• Journal of Yeungnam Medical Science
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• v.22 no.2
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• pp.241-246
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• 2005

Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The proportion of abnormal cells is dramatically different between tissues and the severity of the phenotype is not directly related to the level of mosaicism. Therefore, it is very difficult to provide a definitive prognosis. We report here a case of constitutional trisomy 8 mosaicism with agenesis of the corpus callosum, congenital heart disease and micrognathia. The trisomy 8 cell line was not detected by prenatal cytogenetic study. This is the fourth reported case of constitutional trisomy 8 mosaicism in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.50-54
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• 2020

Vici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.

• Journal of the Korean Society of Radiology
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• v.81 no.4
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• pp.985-989
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• 2020

Chlorfenapyr is widely used as an insecticide, despite it being fatal to humans. However, chlorfenapyr-induced central nervous system toxicity has rarely been reported. We report the magnetic resonance imaging (MRI) findings in a rare case of chlorfenapyr-induced toxic leukoencephalopathy. A 71-year-old man who had ingested chlorfenapyr approximately two weeks prior visited our hospital and presented with bilateral lower motor weakness and voiding dysfunction that had developed two days before admission. Brain MRI revealed extensive bilateral white matter abnormalities involving the corpus callosum, internal capsule, brain stem, and bilateral middle cerebellar peduncle. Furthermore, spine MRI revealed diffuse swelling and hyperintensity on the T2-weighted images.