• Clinical and Experimental Pediatrics
• /
• v.52 no.4
• /
• pp.471-475
• /
• 2009

Purpose : Mitochondrial disorders are a clinical entity characterized by diverse symptoms and signs of involvement of various systems. Furthermore, the disorders are known to show ophthalmologic manifestations as well as neurological findings. Visually evoked potential is a sensitive measure to check the integrity of the visual pathway. In this study, we have investigated the value of visually evoked potential in mitochondrial disorders with respiratory chain defects. Methods : Nineteen patients diagnosed with mitochondrial respiratory chain complex I defect as confirmed by spectrophotometric enzyme assay in muscle samples were enrolled for this study. The patients underwent a visually evoked potential study. We classified the results into four groups and compared these with clinical ophthalmologic findings. Results : Among the 19 patients, 14 showed abnormal visually evoked potential findings. Seven patients showed abnormal clinical ophthalmologic findings. All patients with abnormal ophthalmologic findings showed abnormal visually evoked potential findings. Among the 12 patients with normal ophthalmologic findings, seven showed abnormal results in visually evoked potential. Conclusion : Visually evoked potential study could be used as an effective screening tool for mitochondrial disorders to detect ophthalmologic and neurological abnormalities.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.2
• /
• pp.55-62
• /
• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Journal of Yeungnam Medical Science
• /
• v.1 no.1
• /
• pp.25-34
• /
• 1984

During last 10 years we experienced 25 cases of C.N.S. cysticercosis. Now clinical analysis and evaluation of our cases were made and the results are followings: 1. Prevalence in man and women are nearly same and about 70% of cases are distributed between 20-50 years old. 2. According to Nieto's classification, mostly are ventricular (44%) and parenchymal type (36%). 3. Clinical manifestations were IICP (92%), focal neurological deficits (68%), seizure (48%), altered mental status (36%) and others listed on table 7. 4. In ventricular type, IICP and cerebellar dysfuction signs were predominated but seizure and focal neurological deficits were commonly seen in parenchymal type. 5. Subcutaneous cysticercus nodules were palpated in 32 % of cases. 6. Positive stool ova was observed in 29% of cases. 7. Radiologic studies revealed as followings: 16 % of cases showed abnormal findings on plain film, 84% on angiography, 94% on ventriculography and 100% on computed tomography and myelography. Computed tomography looks like most helpful diagnostic method for C.N.S. cysticercosis, they ususally revealed lucent cystic lesion, hydrocephalic findings and contrast enhancement. 8. Suboccipital craniectomy, craniotomy with removal of parenchymal cyst or laminectomy were done according to location and types of lesion. 72 % of operated cases revealed good results and motarlity was 4 % of cases.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.14 no.2
• /
• pp.123-134
• /
• 2014

Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis of many of these diseases, if diagnosed early enough before irreversible damage occurs. Diseases of inborn errors of metabolism are so diverse over several hundred disease up to now and may be several thousand in near future, and these diversities of IEMs make clinicians embarassed. The signs of neurological dysfunctions of many IEMs manifesting in the neonatal period is very nonspecific, such as poor feeding, poor sucking, apnea or tachypnea, vomiting, hypertonia, hypotonia, seizure, letharginess, consciousness change and coma. But after neonatal period, the signs of neurological deficits become specific and localized. The results of routine basal laboratory tests such as metabolic acidosis, hyperammonemia, lactic acidemia, ketonemia or hyperuricemia can give very important clinical clues for the diagnosis of IEMs. Even no abnormal findings on routine laboratory test could be very important clue for NKH, sulfite oxidase deficiency and peroxisomal disorders. These various clinical manifestations of these diverse diseases can be categorized and summarized. This makes it essential that the practicing clinicians be familiar with the clinical presentations and symptomatic and systematic approaches of these disorders. Characteristic clinical presentations, methods of symptomatic and systematic approach and typing of various disorders is discussed in this review.

• Korean Journal of Psychosomatic Medicine
• /
• v.29 no.2
• /
• pp.207-212
• /
• 2021

Anti-N-methyl-D-aspartate receptor (Anti-NMDAR) encephalitis is a neuroinflammatory disease mediated by autoantibodies to NMDAR. In the initial clinical stages of anti-NMDAR encephalitis, psychiatric symptoms like delusions, perceptual disturbances, and disorganized speech or behaviors are pronounced even without obvious neurological symptoms. Early treatments like immunotherapy and/or tumor removal are central to good clinical outcomes. Hence, it is important to diagnose early anti-NMDAR encephalitis, distinguishing it from mental disorder. In the present case study, the authors described psychiatric symptoms assessed with Positive and Negative Syndrome Scale (PANSS) of Ms. A, a 26-year-old woman, in the early phase of anti-NMDAR encephalitis. We will discuss the characteristic psychopathology of anti-NMDAR encephalitis toward prompt diagnosis and treatment. Ms. A showed a higher negative subscale score than positive one on the PANSS. Compared with mental disorder, negative symptoms and cognitive impairment would be more prominent in the early stage of anti-NMDAR encephalitis. Rituximab and teratoma removal were effective, and quetiapine showed good tolerability. It is recommended to evaluate anti-NMDAR encephalitis when negative symptoms, cognitive impairment, catatonia, changes in consciousness level, and neurological symptoms are observed, especially in young women.

• Pediatric Infection and Vaccine
• /
• v.8 no.2
• /
• pp.247-252
• /
• 2001

Although the incidence of tuberculosis has been decreased, it is still an important community acquired infectious disease in the world. Miliary or disseminated tuberculosis occurs from the inadequacy of host defense in controling tuberculous infection. Generally, brain parenchyme has been considered to be a rare involving organ than other organs or meninges in miliary tuberculosis. However it has been proving that the brain parenchyme is commonly involved organ in miliary tuberculosis even without neurological manifestations. We report a case of 8 yr-old male patient, who was diagnosed as having an miliary tuberculosis with multiple tuberculoma throughout the brain. The tuberculous lesions of lung and brain were nearly cleared within 3 months with anti-tuberculous therapy. With a reveiw of related literatures, we suggest that the patients with miliary tuberculosis should be evaluateded about brain involvement.

• Clinical and Experimental Pediatrics
• /
• v.53 no.5
• /
• pp.616-622
• /
• 2010

Enterovirus 71 (EV71) has been recognized as a frequent cause of epidemics of hand-foot-and-mouth disease (HFMD) associated with severe neurological symptoms. In the spring of 2009, HFMD was epidemic in Korea. Severe cases with complication, including death, have been reported and it has become a public health issue. Most symptomatic EV71 infections commonly result in HFMD or herpangina. These clinical manifestations can be associated with neurologic syndromes frequently. Neurologic syndromes observed in EV71 include meningitis, meningoencephalomyelitis, poliomyelitis-like paralytic disease, Guillain-Barr$\acute{e}$ syndrome, transverse myelitis, cerebellar ataxia, opsoclonus-myoclonus syndrome, benign intracranial hypertension, and brainstem encephalitis. Examinations for EV 71 were performed from the stools, respiratory secretion or CSF of the children by realtime PCR. Gene analysis showed that most of them were caused by EV71 subgenotype C4a which was prevalent in China, 2008. Public health measures including personal and environmental hygiene, must to target daycare centers, kindergartens, and schools where highly susceptible children congregate. To prevent the spread of infection, preschools where transmission persists for more than 2 incubation periods, have been recommended for closure, and trigger criteria for voluntary closure was instituted. During closure, operators are to thoroughly clean the centers before they are allowed to reopen. In addition, parents are advised to ensure that their children adopt a high standard of personal hygiene and to keep the infected child at home until full recovery. Because the outbreaks occur in a cyclical pattern, surveillance system to predict next outbreaks and adequate public health measures to control need to be planned for future. Control of EV71 epidemics through surveillance and public health intervention needs to be maintained in Korea. Future research should focus on understanding of EV71 virulence, identification of the receptor(s) for EV71, development of antiviral agents and development of vaccine.

• The Korean Journal of Pain
• /
• v.18 no.2
• /
• pp.255-258
• /
• 2005

Many patients with intractable chest pain visit pain clinics, two of which, with rare cases of an intraspinal tumor and malignant mesothelioma were experiences at our clinic. A 37-year old female patient presented with exacerbating chest pain, but without neurological manifestations, of 15-months duration. Her laboratory findings, such as blood tests, chest X-ray, EKG, abdominal ultrasonography and chest CT, were normal. MRI revealed an intradural extramedullary schwannoma at the T 5 and 6 levels of the thoracic spine. She completely recovered following a laminectomy, with removal of the tumor. The other case was a 65-year old male patient, who presented with chest and back pain in the thoracic area of 6 months duration. He had no cough and dyspnea, and was initially misdiagnosed with intercostal neuralgia; therefore, pain control medication was administered, but all trials were ineffective. Finally, chest CT revealed a malignant mesothelioma, with multiple spine metastases. In conclusion, patients with intractable chest pain should be re-examined both clinically and radiographically.

• Journal of Microbiology and Biotechnology
• /
• v.30 no.1
• /
• pp.38-43
• /
• 2020

Hand, foot, and mouth disease (HFMD) is caused by enterovirus 71 (EV71) in infants and children under six years of age. HFMD is characterized by fever, mouth ulcers, and vesicular rashes on the palms and feet. EV71 also causes severe neurological manifestations, such as brainstem encephalitis and aseptic meningitis. Recently, frequent outbreaks of EV71 have occurred in the Asia-Pacific region, but currently, no effective antiviral drugs have been developed to treat the disease. In this study, we investigated the antiviral effect of salvianolic acid B (SalB) on EV71. SalB is a major component of the Salvia miltiorrhiza root and has been shown to be an effective treatment for subarachnoid hemorrhages and myocardial infarctions. HeLa cells were cultured in 12-well plates and treated with SalB (100 or 10 ㎍/ml) and 10⁶ PFU/ml of EV71. SalB treatment (100 ㎍/ml) significantly decreased the cleavage of the eukaryotic eIF4G1 protein and reduced the expression of the EV71 capsid protein VP1. In addition, SalB treatment showed a dramatic decrease in viral infection, measured by immunofluorescence staining. The Akt signaling pathway, a key component of cell survival and proliferation, was significantly increased in EV71-infected HeLa cells treated with 100 ㎍/ml SalB. RT-PCR results showed that the mRNA for anti-apoptotic protein Bcl-2 and the cell cycle regulator Cyclin-D1 were significantly increased by SalB treatment. These results indicate that SalB activates Akt/PKB signaling and inhibits apoptosis in infected HeLa cells. Taken together, these results suggest that SalB could be used to develop a new therapeutic drug for EV71-induced HFMD.

• Journal of Acupuncture Research
• /
• v.19 no.6
• /
• pp.61-66
• /
• 2002

Objective : Carpal tunnel syndrome has gained increasing attention and acceptance as a significant cause of peripheral neuropathy, since it was first reported in 1836. The purpose of this study is to inspect the effect of oriental medical treatment on Carpal tunnel syndrome patients who is not come under surgical decompession. Methods : 20 patients who visited Won-Kwang University Hospital during the period from January 1998 to May 2000 were analysed for clinical manifestations. Results : 1. Among 20 patients, 3 were male and 17 were female. 2. The syndrome occurred on the right side in 5 patients, on the left side in 0 patients, and on both 15 patients 3. The most of causes were overwork. 4. Numbness was the most common symptom followed by night pain, paresthesis, morning stiffness, puffiness and resting pain 5. Among 20 patients, 12 were Tinel's sign positive, 16 were Phalen's test positive Conclusions : When the symptom is mild and duration is short, conservative treatment is effetive, but when neurological deficit is prominent and conservative treatment is not effective, surgical decompession is indicated. We treated 19 among 20 cases of the patients which Carpal Tunnel syndrome. We achieved effective results.