• Journal of Biomedical Engineering Research
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• v.42 no.6
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• pp.295-303
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• 2021

Idiopathic normal-pressure hydrocephalus (INPH) is considered a potentially treatable neurological disorder by shunt surgery and characterized by a triad of symptoms including gait disturbance, cognitive impairment and urinary dysfunction. Although disorders of white matter are generally viewed as the principal pathological features of INPH, analysis of cortical features are important since the destruction of neural tracts could be associated with cortical structural changing. The aim of the study was to determine whether there was any relationship between gait parameter and structural features of cerebral cortex in INPH patients. Gait parameters were measured as follows: step width, toe in/out angle, coefficient of variation (CV) value of stride length, CV value of stride time. After obtaining individual brain MRI of patients with INPH and hemispheric cortical surfaces were automatically extracted from each MR volume, which reconstructed the inner and outer cortical surface. Then, cortical thickness, surface area, and volume were calculated from the cortical surface. As a result, step width was positively correlated with bilateral postcentral gyrus and left precentral gyrus, and toe in/out was positively correlated with left posterior parietal cortex and left insula. Also, the CV value of stride length showed positive correlation in the right superior frontal sulcus, left insula, and the CV value of stride time showed positive correlation in the right superior frontal sulcus. Unique parameter of cerebral cortical changes, as measured using MRI, might underline impairments in distinct gait parameters in patients with INPH.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Pediatric Infection and Vaccine
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• v.29 no.1
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• pp.54-60
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• 2022

Salmonella meningitis is rare yet poses causes significant neurological morbidity in children. Infants, especially those under 3 months of age, and those with immunocompromised states, such as malignancy, malaria, and human immunodeficiency virus infection, are at increased risk for developing Salmonella meningitis. Herein, we describe a case of Salmonella meningitis in a previous healthy 8-year-old girl who presented with high fever, vomiting, and altered mental status. Group D Salmonella species were isolated in cerebrospinal fluid culture, and no abnormal findings were noted in brain magnetic resonance imaging. Immunoglobulin levels and lymphocyte subset counts were within the normal ranges, and no genetic mutation responsible for primary immunodeficiency disease was detected by next-generation sequencing. The patient's condition improved rapidly with third-generation cephalosporin, and no complications or sequalae developed. Nontyphoidal Salmonella can cause meningitis in immunocompetent children and can be successfully treated with early administration of antibiotics.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.33 no.3
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• pp.73-81
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• 2022

Since dissociative identity disorder (DID) has symptoms similar to schizophrenia, such as auditory hallucinations and delusional thoughts of being controlled, there are difficulties in its differential diagnosis. A 16-year-old adolescent male patient who was previously diagnosed with schizophrenia from a different hospital was admitted to our inpatient psychiatric unit for the evaluation of auditory hallucinations and suicide attempts. Through psychiatric evaluations, it was determined that the patient suffered from identity alternation, dissociation, and amnesia. As for the diagnostic evaluations, the following measures were implemented: a psychiatric interview regarding the diagnostic criteria, mental status examination, laboratory tests, brain imaging studies, electroencephalography, and full psychological test for adolescents, and the self-reported measure of the Adolescent Dissociative Experiences Scale. The patient was diagnosed with DID, and the following treatments were administered: pharmacotherapy, ego state therapy, psychoeducation regarding emotions, trauma-focused psychotherapy including stabilization, and family therapy. Following treatment, in the internal dimensions, the patient was able to recognize the nine alternate identities in charge of his emotions, which established a basis for the potential integration of identities. In the external dimensions, he showed improvements in the aspects of family conflicts and issue of school refusal. This is the first reported case of DID in an adolescent in Korea; it emphasizes the consideration of DID in the differential diagnosis of other mental illnesses such as schizophrenia, bipolar disorder, and posttraumatic stress disorder and expands the treatment opportunities for DID by sharing the procedures of ego state therapy.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• Journal of Chest Surgery
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• v.56 no.1
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• pp.42-48
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• 2023

Background: With recent advances in cardiac surgery through minimal access, mini-thoracotomy has emerged as an excellent alternative for cardiac myxoma resection. This study analyzed the surgical results of this approach, focusing on postoperative cerebral embolism and tumor recurrence. Methods: We retrospectively reviewed 64 patients (mean age, 56.0±12.1 years; 40 women) who underwent myxoma resection through mini-thoracotomy from October 2008 to July 2020. We conducted femoral cannulation and antegrade cardioplegic arrest in all patients. Patient characteristics and perioperative data, including brain diffusion-weighted magnetic resonance imaging (DWI) findings, were collected. Medium-term echocardiographic follow-up was performed. Results: Thirteen patients (20.3%) had a history of preoperative stroke, and 7 (11.7%) had dyspnea with New York Heart Association functional class III or IV. Sixty-one cases (95.3%) had myxomas in the left atrium. The mean cardiopulmonary bypass and cardiac ischemic times were 69.0±28.6 and 34.1±15.0 minutes, respectively. Sternotomy conversion was not performed in any case, and 50 patients (78.1%) were extubated in the operating room. No early mortality or postoperative clinical stroke occurred. Postoperative DWI was performed in 32 (53%) patients, and 7 (22%) showed silent cerebral embolisms. One patient underwent reoperation for tumor recurrence during the study period; in that patient, a genetic study confirmed the Carney complex. Conclusion: Mini-thoracotomy for cardiac myxoma resection showed acceptable clinical and neurological outcomes. In the medium-term echocardiographic follow-up, reliable resection was proven, with few recurrences. This approach is a promising alternative for cardiac myxoma resection.

• Journal of Radiopharmaceuticals and Molecular Probes
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• v.6 no.2
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• pp.75-91
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• 2020

[^99mTc]Tc-Hexamethylpropylene amine oxime (HMPAO) is currently used as a regional cerebral blood flow imaging agent for single photon emission computed tomography (SPECT). The HMPAO ligand exists in two isomeric forms: d,l and meso showing different properties in vivo. Later studies indicated that brain uptake patterns of ^99mTc-complexes formed from separated enantiomers differed. Separation of enantiomers is difficult by fractional crystallizations method. Usually, the substance is obtained in low chemical yield in a time-consuming procedure. Furthermore, the final product still contains some impurity. So we have developed new efficient route for synthesis of R,R- and S,S-HMPAO enantiomeric compounds in 6-steps. Nucleophilic substitution (S_N2) reactions of 2,2-dimethylpropane-1,3-diamine either with S- (1a) or R-methyl2-chloropropanoate (1b) were performed to produce compounds R,R- (2a) or S,S-isomer (2b) derivatives protected with benzylchloroformate (Cbz), respectively. And then Weinreb amide and methylation reaction using Grignard reagent, oxime formation with ketone group and deprotectiion of Cbz group by hydrogenolysis gave S,S- (7a) or R,R-HMPAO (7b), respectively. Entaniomeric compounds were synthesied with high yield and purity without any undesired product. The 7a or 7b kits containing 10 ㎍ SnCl₂-2H₂O were labeled with ^99mTc with high radiolabeling yield (90%).

• Pediatric Infection and Vaccine
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• v.30 no.2
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• pp.91-96
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• 2023

Infection with enterovirus (EV) 71 is usually associated with hand-foot-and-mouth disease and herpangina. The most frequent neurologic complication is brainstem encephalitis. A 30-month-old boy visited the pediatric emergency department with fever, lethargy, and abnormal eye contact. His mental status was slightly drowsy. On hospitalization day 2, the patient experienced respiratory arrest with apnea. Brain magnetic resonance imaging revealed bilateral symmetric T2-high signal lesions without enhancement in the posterior aspect of the brainstem and left medial temporal lobe. Electroencephalography was indicative of diffuse cerebral dysfunction with diffuse high amplitude and irregular delta activities. He underwent a gene study and was diagnosed with myoclonic epilepsy with ragged red fibers syndrome. We report a case of EV 71 brainstem encephalitis by polymerase chain reaction for nasopharyngeal aspirates and feces with rapid progression within one day of fever without the manifestation of throat and skin lesions because of his underlying mitochondrial disease.

• Journal of Korean Neurosurgical Society
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• v.66 no.5
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• pp.562-572
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• 2023

Objective : Bevacizumab is a feasible option for treating cerebral radiation necrosis (RN). We investigated the clinical outcome of RN after treatment with bevacizumab and factors related to the initial response and the sustained effect. Methods : Clinical data of 45 patients treated for symptomatic RN between September 2019 and February 2021 were retrospectively collected. Bevacizumab (7.5 mg/kg) was administered at 3-week intervals with a maximum four-cycle schedule. Changes in the lesions magnetic resonance image (MRI) scans were examined for the response evaluation. The subgroup analysis was performed based on the initial response and the long-term maintenance of the effect. Results : Of the 45 patients, 36 patients (80.0%) showed an initial response, and eight patients (17.8%) showed delayed worsening of the corresponding lesion. The non-responders showed a significantly higher incidence of diffusion restriction on MRI than the responders (100.0% vs. 25.0%, p<0.001). The delayed worsening group showed a significantly higher proportion of glioma pathology than the maintenance group (87.5% vs. 28.6%, p=0.005). Cumulative survival rates with sustained effect were significantly higher in the groups with non-glioma pathology (p=0.019) and the absence of diffusion restriction (p<0.001). Pathology of glioma and diffusion restriction in MRI were the independent risk factors for non-response or delayed worsening after initial response. Conclusion : The initial response of RN to bevacizumab was favorable, with improvement in four-fifths of the patients. However, a certain proportion of patients showed non-responsiveness or delayed exacerbations. Bevacizumab may be more effective in treating RN in patients with non-glioma pathology and without diffusion restriction in the MRI.

• The Journal of Internal Korean Medicine
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• v.43 no.6
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• pp.1289-1300
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• 2022

Background: The purpose of this study was to report the improvement of a patient with one-and-a-half syndrome, vertigo, and paresthesia caused by acute primary pontine hemorrhage (PPH) after a combination treatment of traditional Korean and Western medicine. Case report: A 51-year-old female with one-and-a-half syndrome, vertigo, and paresthesia after PPH was treated with Korean medicine, including herbal medication, acupuncture, and moxibustion, and Western medicine, including medication and rehabilitation therapy during hospitalization. Her progress was evaluated by checking for changes in symptoms with the extraocular muscle (EOM) function test, numeral rating scale (NRS), and follow-up brain computed tomography scans and magnetic resonance imaging (MRI). After 41 days of treatment, the EOM movement was improved, leaving limited abduction of the left eye. The NRS scores for vertigo and paresthesia decreased from 10 to 5 and from 10 to 3, respectively. Improvement was noted in hematoma in MRI, but a new ischemic lesion was also discovered. Conclusion: This case reports the clinical course of one-and-a-half syndrome and suggests that a combined therapy of traditional Korean and Western medicine can be useful for PPH patients with one-and-a-half syndrome, vertigo, and paresthesia. However, studies of larger populations are required.