• Journal of Genetic Medicine
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• v.19 no.2
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• pp.100-104
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• 2022

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• The Journal of the Society of Stroke on Korean Medicine
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• v.10 no.1
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• pp.62-67
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• 2009

Wallenberg's syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Wallenberg's syndrome is also called Lateral Medullary Syndrome. In this case report, we are going to describe the clinical menifestation and progress of one case of Wallenberg's syndrome and review previously published case reports about it and compare them to our case. In conclusion, significant improvements were observed in some symptoms but there were some symptoms not improved such as paresthesia. So further researches are needed for more effective treatment.

• Journal of the Korean Society of Radiology
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• v.83 no.6
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• pp.1354-1359
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• 2022

Glufosinate ammonium-containing herbicides are non-selective herbicides, used worldwide. With the increasing use of glufosinate ammonium-containing herbicides, cases of acute intoxication in suicide attempts have also increased. Herein, we report a case of a patient presenting cytotoxic edema in the posterior limbs of the bilateral internal capsules, bilateral middle cerebellar peduncles, and splenium of the corpus callosum on the brain diffusion-weighted MRI after glufosinate ammonium intoxication.

• The Korean Journal of Nuclear Medicine
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• v.39 no.6
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• pp.438-444
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• 2005

Purpose: Anhedonia has been proposed to be the result of a basic neurophysiologic dysfunction and a vulnerability marker that precede and contribute to the liability of developing schizophrenia. We hypothesized that anhedonia, as a construct reflecting the decreased capacity to experience pleasure, should be associated with decreased positive hedonic affect trait. This study examined the relationship between anhedonia and positive hedonic affect trait and searched for the brain legions which correlate with anhedonia in normal subjects. Materials and Methods: Using $^{18}F$-FDG PET scan, we investigated the brain activity of twenty one subjects during resting state. Questionnaires were administrated after the scan in order to assess the self-rated individual differences in physical/social anhedonia and positive/negative affect traits. Results: Negative correlation between physical anhedonia score and positive affect trait score was significant (Pearson coefficient =-0.440, p<0.05). The subjects physical and social anhedonia scores showed positive correlation with metabolic rates in the cerebellum and negative correlation with metabolic rates in the inferior temporal gyrus and middie frontal gyrus. In addition, the positive affect trait score positively correlated with various areas, most prominent with the inferior temporal gyrus. Conclusion: These results suggest that neural substrates, such as the inferior temporal gyrus and prefrontal-cerebellar circuit, which dysfunction has been proposed to be involved with the cognitive deficits of schizophrenia, may also play a significant role in the liability of affective deficits like anhedonia.

• The Korean Journal of Nuclear Medicine
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• v.35 no.1
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• pp.12-22
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• 2001

Purpose: The ictal perfusion patterns of cerebellum and basal ganglia have not been systematically investigated in patients with temporal lobe epilepsy (TLE). Their ictal perfusion patterns were analyzed in relation with temporal lobe and frontal lobe hyperperfusion during TLE seizures using SPECT subtraction. Materials and Methods: Thirty-three TLE patients had interictal and ictal SPECT, video-EEG monitoring, SPGR MRI, and SPECT subtraction with MRI co-registration. Results: The vermian cerebellar hyperperfusion (CH) was observed in 26 patients (78.8%) and hemispheric CH in 25 (75.8%). Compared to the side of epileptogenic temporal lobe, there were seven ipsilateral hemispheric CH (28.0%), fifteen contralateral hemispheric CH (60.0%) and three bilateral hemispheric CH (12.0%). CH was more frequently observed in patients with additional frontal hyperperfusion (14/15, 93.3%) than in patients without frontal hyperperfusion (11/18, 61.1%). The basal ganglia hyperperfusion (BGH) was seen in 11 of the 15 patients with frontotemporal hyperperfusion (73.3%) and 11 of the 18 with temporal hyperperfusion only (61.1%). In 17 patients with unilateral BGH, contralateral CH to the BGH was observed in 14 (82.5%) and ipsilateral CH to BGH in 2 (11.8%) and bilateral CH in 1 (5.9%). Conclusion: The cerebellar hyperperfusion and basal ganglia hyperperfusion during seizures of TLE can be contralateral, ipsilateral or bilateral to the seizure focus. The presence of additional frontal or basal ganglia hyperperfusion was more frequently associated with contralateral hemispheric CH to their sides. However, temporal lobe hyperperfusion appears to be related with both ipsilateral and contralateral hemispheric CH.

• The Korean Journal of Nuclear Medicine
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• v.32 no.5
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• pp.397-402
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• 1998

Purpose: The purpose of this study was to evaluate the phenomenon of diaschisis in the cerebellum and cerebral cortex in patients with pure basal ganglia hemorrhage using cerebral blood flow SPECT. Materials and Methods: Twelve patients with pure basal ganglia hemorrhage were studied with Tc-99m ECD brain SPECT. Asymmetric index (AI) was calculated in the cerebellum and cerebral cortical regions as |$C_R-C_L$/$(C_R-C_L){\times}200$, where $C_R$and $C_L$ are the mean reconstructed counts for the right and left ROIs, respectively. Hypoperfusion was considered to be present when AI was greater than mean +2 SD of 20 control subjects. Results: Mean AI of the cerebellum and cerebral cortical regions in patients with pure basal ganglia hemorrhage was significantly higher than normal controls (p<0.05): Cerebellum ($18.68{\pm}8.94$ vs $4.35{\pm}0.94$, $mean{\pm}SD$), thalamus ($31.91{\pm}10.61$ vs $2.57{\pm}1.45$), basal ganglia ($35.94{\pm}16.15$ vs $4.34{\pm}2.08$), parietal ($18.94{\pm}10.69$ vs $3.24{\pm}0.87$), frontal ($13.60{\pm}10.5$ vs $4.02{\pm}2.04$) and temporal cortex ($15.92{\pm}11.95$ vs $5.13{\pm}1.69$). Ten of the 12 patients had significant hypoperfusion in the contralateral cerebellum. Hypoperfusion was also shown in the ipsilateral thalamus (n=12), ipsilateral parietal (n=12), frontal (n=6) and temporal cortex (n=10). Conclusion: Crossed cerebellar diaschisis (CCD) and cortical diaschisis may frequently occur in patients with pure basal ganglia hemorrhage, suggesting that CCD can develop without the interruption of corticopontocerebellar pathway.

• The Korean Journal of Nuclear Medicine
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• v.31 no.3
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• pp.320-329
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• 1997

Neuroanatomic substrate of autism has been the subjects of continuing investigation. Because previous studies had not demonstrated consistent and specific neuroimaging findings in autism and most studies comprised adults and school-aged children, we performed a retrospective review in search of common functional and anatomical abnormalities with brain SPECT using Tc-99m ECD and correlative MRI The patient population was composed of 18 children aged 28 to 89 months(mean age : 55 months) who met the diagnostic criteria of autism as defined in the DSM-IV and CARS. Brain SPECT was performed after intravenous injection of 185-370MBq of Tc-99m ECD using brain dedicated annular crystal gamma camera. MRI was performed in all patients including T1, T2 axial and T1 sagittal sequences. SPECT data were visually assessed. Thirteen patients had abnormal SPECT scan revealing focal areas of decreased perfusion. Decreased perfusion of cerebellar vermis(12/18), cerebellar hemisphere(11/18), thalami(13/18), basal ganglia(4/18), posterior parietal(7/18), and temporal(4/18) area were noted on brain SPECT. Whereas, only 3 patients had abnormal MR findings which were subtle volume loss of parieto-occipital white matter in 3 and mild thinning of posterior body of corpus callosum in 2 and slightly decreased volume of cerebellar vermis in 1. Comparison of the numbers of abnormal findings revealed that regional cerebral blood flow (rCBF) abnormalities seen on SPECT were more numerous than anatomical abnormalities seen on MRI. In conclusion, extensive perfusion impairment involving cerebellum, thalami and parietal lobe were found in this study. SPECT may be more sensitive in reflecting pathophysiology of autism than MRI. However, further studies are mandatory to determine the significance of thalamic and parietal perfusion impairment in autism.

• Annals of Clinical Neurophysiology
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• v.10 no.2
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• pp.104-108
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• 2008

Background: The compression of 7th cranial nerve by arteries is one of the various causes of hemifacial spasm (HFS). A few previous studies were revealed the relation between the compression of 7th cranial nerve and common trunk anomaly. We evaluated the common trunk anomalies in patients with HFS using MRI and MRA. Methods: From January 2001 to December 2005, 41 consecutive patients (9 men, mean age $54.5{\pm}12.6$) with HFS underwent MRI and MRA. T2 axial images and time-of-flight angiographies were reviewed for identification of the compression at root exit zone by two neuroradiologists and one neurologist. Results: Thirty-seven patients showed neurovascular compression on the lesion side. Twenty patients of them were shown the compression of 7th cranial nerve by anterior inferior cerebellar artery (AICA), and seventeen patients of them were shown the compression by posterior inferior cerebellar artery (PICA). Twenty-four patients of the thirty-seven patients had common trunk anomaly. In control, twelve of twenty-one subjects had common trunk anomaly, that the frequencies of common trunk anomaly of two groups were 58.8% in HFS and 57.1% in controls. In the twenty-four patients with common trunk anomaly, eighteen patients had dominant-AICA, and six patients had dominant-PICA. The rate of nerve compression by common trunk anomaly in the HFS with unilateral common trunk, dominant-AICA was 76.5% and dominant-PICA was 100%. Conclusions: This study also revealed that AICA was most common compressive artery. There was no difference between the HFS groups and control groups in frequency of common trunk anomaly. Thus, we could not demonstrate the relationship between common trunk anomaly and HFS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.