• Journal of Genetic Medicine
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• v.16 no.2
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• pp.71-75
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• 2019

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

• Journal of Korean Neurosurgical Society
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• v.29 no.7
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• pp.861-867
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• 2000

Purpose : Neuronal migration disorder(NMD) is a major underlying pathology of patients with intractable epilepsy. The role of NMD on seizure susceptibility or epileptogenecity, however, has not been documented. Methods : External irradiation of total amount of 250 cGY was performed to the fetal rats on days 16(E16) and 17(E17) of gestation. After delivery, the rats of 230-260g were decapitated for the histopathologic study. Epileptog-enecity of the NMD was studied by observing electroclinical events after intraperitoneal kainic acid(KA) injection in the control rats and NMD rats. Results : Histopathologic findings revealed focal and/or diffuse cortical dysplasia consisting of dyslamination of the cerebral cortex and appearance of the cytomegalic neurons, neuronal heterotopia in the periventricular white matter, dispersion of the pyramidal layer and the dentate gyrus of the hippocampus, and agenesis of the corpus callosum. Abnormal expression of neurofilaments protein(NF-M/H) was characteristically observed in the dysplastic neurons of the neocortex and hippocampus. Early ictal onset and prolonged ictal activity on EEG and clinical seizures were observed from the NMD rats unlike with the control rats. Conclusions : Exteranl irradiation on the fetal rats produced NMD. And the rats with NMD were highly susceptible to kainic acid provoked seizures. This animal model would be useful to study the pathophysiology of clinically relevant NMDs.

• Annals of Clinical Neurophysiology
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• v.20 no.2
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• pp.85-88
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• 2018

Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic seizures. It is characterized by optic atrophy, pituitary dysfunction and midline structure abnormalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations.

• The Journal of Internal Korean Medicine
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• v.25 no.3
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• pp.569-572
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• 2004

Marchiafava-Bignami Disease(MBD) is a rate disease caused by chronic alcohol abuse and involves the degeneration of corpus callosum pathological in character. Until recently there was no method to diagnose MBD except postmortem examination, but nowadays rodiology has advanced increasingly, so MBD can be diagnosed correftly and easily. A case of MBD with stroke symptoms is reported. A 56-year-old man who has been a heavy alcoholic for several years was admitted with stroke symptoms such as stuporous mental, hemi-extremities weakness, dysphasia and dysphagia. After treatment these symptoms were improved.

• Korean Journal of Veterinary Research
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• v.35 no.2
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• pp.369-374
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• 1995

Aujeszky's disease virus(ADV) was inoculated intranasally into the Korean native goats to investigate pathological findings and pathogenesis of ADV infection by using of histological and immunohistochemical methods and in situ hybridization(ISH). Clinical signs of salvation, pyrexia, pruritus and staggering were followed by death with five days after inoculation, Pathoanatomical findings were edema of the lung and the urinary bladder with hemorrhage and congestion, petechial hemorrhages on the endo-and epicardium, renal congestion, moderate splenomegaly and cystic edema. Main microsocpic lesions observed in all infected goats were confined to the CNS and charcterized by perivascular cuffing with lymphocytes and macrophages, focal gliosis, neuronal degeneration and necrosis, and intranuclear inclusion bodies in the neurons and glial cells. Positive reactions to ADV were detected more frequently in the nuclei than in the cytoplasms of infected nerve cells in the CNS by immunohistochemistry and ISH. Frequenctly localized sites of ADV in the CNS were olfactory bulb, prietal cortex, callosal sulcus and corpus callosum. Positive reactions were also detected in the tonsillar epithelium, and alveolar macrophage and sloughed epithelium of the lung.

• 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.

• Archives of Plastic Surgery
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• v.46 no.5
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• pp.470-474
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• 2019

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ${\leq}2mg/L$, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.

• 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

• The Journal of Korean Physical Therapy
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• v.26 no.3
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• pp.216-219
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• 2014

Purpose: We presented with a patient with traumatic brain injury who showed a transcallosal ipsilateral motor pathway from unaffected motor cortex to affected extremities, as evaluated by diffusion tensor tractography (DTT). Methods: One patient and six age-matched normal subjects were enrolled. A 42-year-old left hemiparetic male who suffered from brain injury by motor vehicle accident 9 years ago showed a leukomalactic lesion in the right corona radiata and parieto-temporal lobe. His left extremities were completely paralyzed initially, but recovered slowly over 2 years. At the time of the evaluation, he was able to grasp and release an object, and to walk with spastic gait pattern. DTT was performed using 1.5 T with a Synergy-L Sensitivity Encoding head coil. DTT was obtained with termination criteria of FA <0.2 and an angle change > $45^{\circ}c$. Results: The motor tracts of the unaffected (left) hemisphere of the patient and control subjects originated from the motor cortex and descended along the known corticospinal tract without any transcallosal tract. By contrast, the tract of the affected (right) hemisphere originated from the left premotor cortex, descended through the left corona radiata, and then crossed the mid-portion of the corpus callosum. The tract then descended through the known corticospinal tract pathway to the right medulla. Conclusion: We conclude that the transcallosal ipsilateral motor pathway from the unaffected hemisphere appeared to contribute to the motor recovery in this patient.

• Proceedings of the Korean Society for Cognitive Science Conference
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• 2005.05a
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• pp.212-215
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• 2005

연령의 증가에 따른 신경원의 활성화도 변화는 기억 및 집행기능 등의 인지기능에 영향을 미치는 것으로 알려져 왔다. 그러나 어떠한 뇌 영역의 기능적 저하가 연령증가에 따라 남자와 여자에서 차별적으로 인지기능의 변화를 가져오는지에 대해서는 거의 알려진 바가 없다. F-18 FDG PET을 이용하여 78명의 정상 성인 남녀를 대상으로 뇌 포도당 대사량을 조사하였다. 남녀가 공통적으로 연령증가에 따라 뇌 포도당 대사량의 저하를 보이는 영역은frontal lobe과 left insula, right anterior cingulate gyrus, bilateral caudate body, thalamus. right corpus callosum 이었다. 여성의 경우 남성과 달리 추가적으로 right caudate와 bilaterial thalamus에서 연령과 뇌 포도당대사량 간에 부적 상관을 보이고 있었다(P < 0.001 uncorrected). 남녀 모두에서 연령이 증가하면서 포도당 대사 저하를 보이는 right inferior frontal gyrus는 여자에게서만 포도당대사 감소비율이 유의하게 컸다. 남녀에서 보이는 이러한 노화 과정 동안의 뇌 포도당 대사의 저하율의 차이가 여성과 남성의 연령증가에 따른 인지적 기능의 차별적 저하에 대한 설명을 제시할 수 있을 것이라 생각한다.