• The Journal of Internal Korean Medicine
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• v.25 no.4
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• pp.457-463
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• 2004

Schizencephaly is a form of the porencephaly in which there is a cystic cavity in the cerebral hemispheres. Schizencephaly is a congenital disease which consist of clefts that extend through the entire hemisphere from the ependymal lining of the lateral ventricles to the pial covering of the cortex. The etiology and the pathogenesis of this malady are not clearly estalilished. Typical symtoms is seizures, mental retardation, spastic tetraplegia and blindness. A case of schizencephaly which was treated through methods of the Oriental Medicine, and that met with good results, is reported.

• Neonatal Medicine
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• v.16 no.1
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• pp.81-84
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• 2009

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.458-463
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• 2009

Purpose : Schizencephaly is a uncommon congenital brain anomaly characterized by congenital clefts spanning the cerebral hemispheres from pial surface to lateral ventricles and lined by gray matter. In this study, we investigated the clinical manifestation and radiologic findings of pediatric schizencephaly. Methods : The data of 13 patients who were diagnosed with schizencephaly in Severance Childrens Hospital and Yongdong Severance Hospital from January 2005 to December 2007 were analyzed retrospectively. Results : The mean age at diagnosis was $9.08{\pm}2.67$ months old and ranged from 1 to 30 months. The ratio of male to female patients was 3.33:1. Five (38.5%) patients had bilateral clefts, while 8 (61.5%) had unilateral clefts. Five (38.5%) patients had closed lip clefts, and 4 (30.8%) had opened lip clefts. Four (30.8%) patients had multiple clefts. Associated anomalies showed in all cases. The clinical features consisted of mild unilateral weakness in 7 (53.8%) cases and a hemiparesis was present in 3 (23.1%) patients. A tetraparesis was in 3 (23.1%) patients. There was no difference in motor deficit between unilateral and bilateral clefts. Delayed development was observed in all cases. Epilepsy was present in 7 (53.8%) patients, 5 patients with unilateral clefts and 2 patients with bilateral clefts. Three (42.8%) patients showed intractable seizures. Conclusion : Schizencephaly showed variable clinical manifestations and radiologic findings in association with the types and locations of the clefts. It is necessary to diagnose schizencephaly early and to detect the development of epilepsy. Intensive and large studies of the correlation of clinical outcomes and radiologic findings should be continued for more effective treatment.

• Investigative Magnetic Resonance Imaging
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• v.4 no.1
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• pp.14-19
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• 2000

Purpose : This study was to present the functional brain mapping of both functional magnetic resonance imaging(MRI) and transcranial magnetic stimulation(TMS) in a case of schizencephaly. Materials and methods : A 28-year-old man, who had left hemiplegia and schizencephaly in right cerebral hemisphere, was exacted with both functional MRI and TMS. Motor function of left hand was decreased whereas right hand was within normal limit. For functional MRI, gradient-echo echo planar imaging($TR/TE/{\alpha}$=1.2 sec/90 msec/90) was employed. The paradigm of motor task consisted of repetitive self-paseo hand flexion-extension exercises with 1-2 Hz periods. An image set of 10 slices was repetitively acquired with 15 seconds alternating periods of task performance and rest and total 6 cycles (three ON periods and three OFF periods) were performed. In brain mapping, TMS was performed with the round magnetic stimulator (mean diameter; 90mm). The magnetic stimulation was done with 80% of maximal output. The latency and amplitude of motor evoked potential(MEP)s were obtained from both abductor pollicis brevis(APB) muscles. Results : Functional MRI revealed activation of the left primary motor cortex with flexion-extension exercises of healthy right hand. On the other hand, the left primary motor cortex, left supplementary motor cortex, and left promoter areas were activated with flexion-extension exercises of left hand. In TMS, magnetic evoked potentials were induced in no areas of right cerebral hemisphere, but in 5 areas of left corebral hemisphere from both abductor pollicis brevis. Latency, amplitude, and contour of response of the magnetic evoked potentials in both hands were similar. Conclusion : Functional MRI and TMS in a patient with schizencephaly were successfully used to localize cortical motor function. Ipsilateral motor pathway is thought to be secondary to reinforcement of the corticospinal tract of the ipsilateral motor cortex.

• Physical Therapy Korea
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• v.17 no.4
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• pp.77-87
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• 2010

The present case study highlights the effects of a novel Comprehensive Hand Repetitive Intensive Strengthening Training (CHRIST) on morphological changes and associated upper extremity (UE) muscle strength and motor performance in a child with spastic quadriplegic cerebral palsy (CP). The Child, a 10-year-old girl with spastic quadriplegic CP, was treated with CHRIST for 60 minutes a day, five times a week, for 5 weeks. The CHRIST was designed to improve motor function and strength. Clinical tests including the modified Wolf Test, Jebsen-Taylor Hand Function Test, and Pediatric Motor Activity Log questionnaire were used to determine motor function. Ultrasound imaging was performed to determine the changes in the cross-section area (CSA) of the extensor carpi radialis (ECR) and triceps brachii (TRI). Muscle strength was measured with a dynamometer at pretest, and post-test, and 3-month follow-up. Ultrasound imaging data showed that the CSAs of both ECR and TRI muscles were enhanced as a function of the intervention. These changes were associated with muscle strength and motor performance and their effects remained even at a 3-month follow-up test. Our results suggest that the CHRIST was effective at treating muscle atrophy, weakness and motor dysfunction in a child with spastic quadriplegic CP.

• Proceedings of the KSMRM Conference
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• 2002.11a
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• pp.86-86
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• 2002

Purpose： To evaluate the white matter fiber configuration in various developmental CNS anomaly 대상 및 방법： Jubert Syndrome, congenital schizencephaly, callosal agenesis and hemiplegic cerebral palsy patients were evaluated by diffusion tensor MRI. All studies were performed using a 1.5T Philips Gyroscan Intern system. Diffusion weighted imaging was performed using single-shot echo planar imaging, with navigator echo phase correction and SENSE. Diffusion weighting was performed along six independent axes, using diffusion weighting of b=600s/$\textrm{mm}^2$. 128 matrix/zero filled to 256, 23cm FOV, 3mm slice thickness were used for imaging parameters. Data were processed on a Window-2000 PC equipped with IDL and PRIDE (Philips Medical System).

• Clinical and Experimental Pediatrics
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• v.60 no.9
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• pp.282-289
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• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

• Korean Journal of Clinical Laboratory Science
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• v.38 no.2
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• pp.141-146
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• 2006

Vagal nerve stimulation (VNS) has been proposed as a possible way to improve the control of refractory epilepsy. We report the effects following VNS treatment in patients with refractory epilepsy. Seventeen patients with a mean age of 12.8 years, ranging from 5 to 29 years, underwent the implantation of vagal nerve stimulation (Cyberonics, Houston, TX). We reviewed the clinical findings before and after VNS in seizure frequency, number of antiepileptic drugs (AED), and quality of life (QOL). All of the patients had intractable seizures, eleven of the patients had additional medical complications, three had hippocampus atrophy, one had encephalomalacia, five had encephalitis, one had pachygyria, and one had schizencephaly. Thirteen patients had symptomatic partial epilepsies, three patients had Lennox-Gastaut syndrome and one had cryptogenic partial epilepsy. The mean follow up duration was 35 months. The mean reduction of seizure frequency compared with baseline before VNS was 26.1% after 3 months (p<0.005), 41.9% after 6 months (p<0.001), 46.9% after 1 year (p<0.001), and 53% at the latest follow-up (p<0.001). Twelve patients showed an improvement of QOL such as mood, language, alertness, expression, and motor function. The most common side effects were transient hoarseness or voice change or cough, which was detected in six patients (35%) and wound infection in one patient (5%). This study has shown a good anti-seizure effect of VNS, decrease in seizure frequency and improvements in QOL. We concluded that VNS is a beneficial therapy in refractory epilepsy with a non-resectable epileptic focus. Further studies should be focused on the prediction of unresponsiveness and the adjustment of VNS parameters for maximum efficacy in patients with various medical histories.

• Investigative Magnetic Resonance Imaging
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• v.14 no.2
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• pp.126-133
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• 2010

Purpose : The study was to evaluate the localization of the abnormal gyral and sulcal patterns obtained by means of brain surface rendering imaging. Materials and Methods : Nineteen patients with cortical dysplasia who underwent brain surface rendering MR imaging were included in this study. We acquired MP-RAGE sequence and created the 3-D surface rendering MR images by using $VoxelPlus^{(R)}$. Anatomical locations and configurations of abnormal gyri and sulci were reviewed. Results : Abnormal gyral and sulcal patterns were seen 18 in 19 patients. The configuration and orientation of affected gyri and sulci were clearly evaluated in the brain surface rendering images. In a lissencephaly, the a cortex was not delineated and showed markedly thick and smooth gyral pattern. In a schizencephaly, there were wheel shaped broad gyral pattern around the cleft. In a hemimegalencephaly, an affected hemisphere were enlarged and displayed thick and wide gyral pattern. In CBPS, the insular cortex was exposed and the gyri of the lesion were thickened. In focal cortical dysplasia, there were irregular serrated or thick and enlarged gyri. Conclusion : Brain surface rendering MR imaging is useful for the evaluation of a detailed gyral pattern and accurate involvement site of abnormal gyri.