• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.33-43
• /
• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.

• Journal of Korean Neurosurgical Society
• /
• v.64 no.6
• /
• pp.944-949
• /
• 2021

Objective : The stability is an important factor to decide the treatment plan in thoracolumbar burst fracture patients. Patients with an unstable burst fracture generally need operative management. Decrease in vertebral body height, local kyphosis, involvement of posterior column, and/or canal compromise are considered important factors to determine the treatment plan. On the other hand, in thoracolumbar injury classification system (TLICS), surgery is recommended in patients with TLICS of more than 5 points. The purpose of this study was to apply the TLICS score in patients with thoracolumbar burst fractures and to distinguish the differences of treatment plan on burst fracture. Methods : All patients, diagnosed as a thoracolumbar burst fracture between January 2006 and February 2019 were included in this study. Unstable thoracolumbar burst fracture was defined as burst fracture with neurologic deficit, three-column injury, kyphosis over 30 degrees, decrease of anterior body height over 40 percent and canal comprise more than 50%. TLICS score was measured with morphology, neurological involvement and posterior ligamentous complex integrity. The existence of instability was compared with TLICS score. Results : Total 233 patients (131 men, 102 women) were included in this study. In Denis classification, 51 patients (21.9%) diagnosed as stable burst fracture while 182 patients (78.1%) had unstable burst fracture. According to TLICS, 72 patients (30.9%) scored less than 4, while 161 patients (69.1%) scored 4 or more. All the patients with stable burst fracture scored 2 in TLICS. Twenty-one patients (9.0) scored 2 in TLICS but diagnosed as unstable burst fracture. Thirteen patients had over 40% of vertebra body compression, four patients had more than 50% of canal compromise, three patients had both body compression over 40% and kyphosis over 30 degrees, one patients had both body compression and canal compromise. Fifteen patients presented kyphosis over 30 degrees, and three (20%) of them scored 2 in TLICS. Seventy-three patients presented vertebral body compression over 40% and 17 (23.3%) of them scored 2 in TLICS. Fifty-three patients presented spinal canal compromise more than 50%, and five (9.4%) of them scored 2 in TLICS. Conclusion : Although the instability of thoracolumbar burst fracture was regarded as a critical factor for operability, therapeutic strategies by TLICS do not exactly match with the concept of instability. According to the concept of TLICS, it should be reconsidered whether the unstable burst fracture truly unstable to do operation.

• Annals of Clinical Neurophysiology
• /
• v.14 no.1
• /
• pp.45-48
• /
• 2012

Neurolymphomatosis is a complication of lymphoma and initial presentation of cranial nerve involvement has been rarely reported. We describe a patient with neurolymphomatosis who presented as facial palsy mimicking steroid responsive Bell's palsy, a common and benign condition. This case shows that even minor neurologic deficit of lymphoma patient should not be absolutely regarded as a benign condition.

• Journal of Korean Neurosurgical Society
• /
• v.29 no.2
• /
• pp.188-195
• /
• 2000

Objective : Essential tremor(ET) is the most common movement disorder, however, there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that ET susceptibility was inherited in an autosomal dominant inheritance. As previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing on molecular genetic detection of movement disorders, such as essential tremor and restless legs syndrome. Moreover, authors have analysed mitochondrial DNA(mtDNA) from the blood cell of positive control(PC) and ET patients via long and accurate polymerase chain reaction(LA PCR). Materials & Methods : Blood samples were collected from PC and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers. Results : With this technique, deletions of large quantities were detected within several regions of mtDNA in ET patients except for D-loop and CO I regions. Conclusion : The authors believe that ET is a genentic disorder with deficiency of mitochondrial DNA multicomplexes and mitochondiral dysfunction could be one of major causative factors of ET. Mitochondrial dysfunction may play an important role in the pathogenesis and possibility of disease progression among familial group with ET patients.

• Radiation Oncology Journal
• /
• v.7 no.2
• /
• pp.189-196
• /
• 1989

Twenty five patients with tumors of the brain stem were treated with radiotherapy between 1979 and 1987. Histological diagnosis could be obtained in 6 cases, and other 19 patients were diagnosed by neurologic findings and CT or MRI. Eighteen patients were treated by radical radiotherapy and 6 patients received both operation and radiotherapy, while 1 patient received chemotherapy after radiotherapy. Total dose ranged from 50 Gy to 55 Gy. By an clinical scoring scale at 2 months after radiotherapy, no complete response was obtained, but 16 cases achieved partial response, 2 cases were stable, and 4 cases were deteriorated. The overall survival rate at 3 years was $36\%$ Age, performance status at diagnosis, degree of cranial nerve involvement, CT pattern of post-contrast enhancement, and clinical responese by scoring scale were correlated with survival.

• Clinical and Experimental Pediatrics
• /
• v.50 no.9
• /
• pp.891-895
• /
• 2007

Purpose : Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system and mostly develops after viral illness or vaccinations. We investigated the clinical differences and neurologic outcomes according to the distribution of the lesions on brain MRI. Methods : The study group was composed of 21 patients from January 1995 to August 2003 in Kyunghee University hospital. We grouped the patients according to the MRI findings as follows. Group I (14 cases): Multi- or unifocal lesions only in the cerebral white matter. Group II (7 cases): lesions in the gray matter with or without white matter involvement. Results : 1. Preceding events were as follows: no defined prodrome (38.1%), upper respiratory tract infection (28.6%), nonspecific febrile illness (19.0%), gastointestinal disturbance and vaccination. 2. Presenting symptoms were as follows: seizures (76.2%), headache/vomiting (47.6%), altered consciousness (38.1%), hemiparesis, cerebellar ataxia, visual disturbance and facial nerve palsy. 3. Laboratory findings were as follows: CSF pleocytosis (76.2%), leucocytosis (38.1%) and elevated CSF protein (28.6%). 4. Fifteen patients were recovered completely without neurological sequelae. Three patients in group I and 1 patient in group II had intractable seizures. Two patients in group I and 2 patients in group II had motor disturbance. Conclusion : There were no statistically significant differences in preceding events, presenting symptoms, and neurological outcomes according to the distribution of the lesions on brain MRI. However, the ADEM have quite diverse clinical manifestations and neuroimage findings. MRI plays an important role in making diagnosis of the patients who are suspected of ADEM.

• Journal of Korean Neurosurgical Society
• /
• v.29 no.12
• /
• pp.1563-1569
• /
• 2000

Objective : Delayed ischemic neurologic deficit(DIND) is one of the major complications following aneurysmal subarachnoid hemorrhage(SAH). However, the correlation between angiographic vasospasm(AV) and DIND after SAH is not precisely known. The authors investigated the timing, incidence, characteristics of DIND, and analyzed correlation between AV and DIND. Patients and Methods : A series of 126 patients with SAH and performed cerebral angiography which, confirmed anterior circulation aneurysm, admitted to between January 1996 to December 1998, were studied retrospectively. A comparative analysis between group 1(G1) in which AV patients presented with DIND, and group 2(G2) patients did not DIND, were done. AV was graded according to location, distribution and degree. Location of vasospasm was classified as basal type(BT), distal type(DT). BT was involved horizontally and include the bilateral carotid systems, proximal middle cerebral artery(MCA) and proximal anterior cerebral artery(ACA). DT was involved vertically and include the MCA branches as they become vertically or posteriorly oriented and the ACA distal to the anterior communicating artery. BT and DT all defined ether as localized type(LT) or combined type(CT). Distribution of vasospasm was classified as type I, type II and type III. Type I represents the involvement of bilateral carotid systems and bilateral anterior cerebral artery, type II was designed as one carotid system without involving anterior cerebral artery, and type III when only some portions of the anterior cerebral artery were involved, bilaterally. Degree of vasospasm was classified as mild(less than 25%), moderate(between 25-50%), severe(greater than 50%), and those were determined by comparing the caliber of the artery in vasospasm to that of the nearest area of apparently normal vessel. Results : The incidence of AV & DIND was 57/126(45.2%), 29/126(23.0%), and timing of DIND was 9 days(${\pm}4.1$) after initial hemorrhage. As for the location, BT was seen in 12 cases(40.0%), DT 11 cases(36.7%) and CT 7 cases (23.3%), respectively. Where as G1, BT was seen 5 cases(18.5%), DT 5 cases(18.5%) and CT 17 cases(63.0%), respectively in G2. CT AV was more correlated with DIND than LT AV(p<0.05). For distribution, type I was seen in 16 cases(59.2%), type II 4 cases(14.8%), type III 7 cases(25.9%) in G1 where as type I was seen in 7 cases(23.3%), type II 10 cases(33.3%), type III 13(43.3%) in G2. Type I AV was well correlated with DIND unlike to type II or type III(p<0.05). As for the degree, mild was seen in 4 cases(14.8%), moderate 14 cases(51.9%), severe 9 cases (33.3%) in G1, and mild 16 cases(18.5%), moderate 11 cases(36.7%) and severe 3 cases(10.0%) in G2. Moderate to severe type AV was well correlated with DIND(p<0.05). Conclusion : These results indicate that it may be possible to predict DIND according to careful analysis of location, distribution, degree of AV in patients with aneurysmal SAH.

• Korean Journal of Head & Neck Oncology
• /
• v.14 no.2
• /
• pp.156-163
• /
• 1998

Background & Objectives: Frameless fractionated stereotactic radiotherapy(FFSRT) is a modification of stereotactic radiosurgery(SRS) with radiobiologic advantage of fractionation without losing mechanical accuracy of SRS. Local recurrence of head and neck cancer at or near skull base benefit from reirradiation. Main barrier to successful palliation is dose limitation secondary to normal tissue tolerance. We try to evaluate the efficacy and safety of FFSRT as a new modality of reirradaton in these challenging patients. Materials & Methods: Seven patients with recurrent head & neck cancer involving at or near skull base received FFSRT from September 1995 to November 1997. Six patients with nasopharyngeal cancer had received induction chemotherapy and curative radiation therapy. One patient with maxillary sinus cancer had received total maxillectomy and postoperative radiation therapy as a initial treatment. Follow-up ranged from 11 to 32 months with median of 24 months. Three of 7 patients received hyperfractionated radiation therapy(1.1-1.2Gy/fraction, bid, total 19.8-24Gy) just before FFSRT. All patients received FFSRT(3-5Gy/fraction, total 15-30Gy/5-10fractions). Chemotherapy(cis-platin $100mg/m^2$) were given concurrently with FFSRT in four patients. Second course of FFSRT were given in 4 patients with progression or recurrence after initial FFSRT. Because IF(irregularity factor; ratio of surface area of target to the surface area of sphere with same volume as a target) is too big to use conventional stereotactic RT using multiple arc method for protection of radiation damage to critical normal tissue, all patients received FFSRT with conformal method using irregular static ports. Results: Five of 7 patients showed complete remission in follow-up CT &/or MRI. Three of these five patients who developed marginal, in-field, and out-field recurrences, respectively. Another one of complete responders has been dead of G-I bleeding without evidence of local recurrence. One partial responder who showed progressive disease 15 months after initial FFSRT has received additional FFSRT, and then he is well-being with symptomatic improvement. One minmal responder who showed progression of locoregional disease 9 months after $1^{st}$ FFSRT has received 2nd FFSRT, and then he is alive with stable disease. Five of 7 case had showed direct invasion to skull base and had complaint headache and various symptoms of cranial nerve involvement. Four of these five case showed improvement of neurologic symptoms after FFSRT. No significant neurologic complicaltion related to FFSRT was observed during follow-up periods. Tumor volumes were ranged from 3.9 to 50.7 cc and surface area ranged from 16.1 to $114.9cm^2$. IF ranged from 1.21 to 1.74. The average ratio of volume of prescription isodose shell to target volume was 1.02 that indicated the improvement of target coverage and dose distribution with FFSRT with conformal method compared to target coverage with FFSRT with multiple arc method. Conclusion: Our initial experience suggests that FFSRT with conformal method was relatively effective and safe modality in the treatment of recurrent head and neck cancer involving at or near skull base. Treatment benefit included good palliation of symptoms and reasonable radiographic response. However, more experience and additional follow-up are needed to better assess its ultimate role in treating these challenging patients.

• Journal of Korean Neurosurgical Society
• /
• v.29 no.11
• /
• pp.1415-1420
• /
• 2000

Essential tremor(ET) is the most common movement disorder however there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that ET susceptibility was inherited in an autosomal dominant inheritance. As with previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing molecular genetic detection of movement disorders, such as essential tremor and restless legs syndrome. Parkinson's disease(PD) is a neurodegenerative disease involving mainly the loss of dopaminergic neurons in substantia nigra by several factors. The cause of dopaminergic cell death is unknown. Recently, it has been suggested that Parkinson's disease many result from mitochondrial dysfunction. The authors have analysed mitochondrial DNA(mtDNA) from the blood cell of PD and ET patients via long and accurate polymerase chain reaction(LA PCR). Blood samples were collected from 9 PD and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers. With LA PCR, 1/3 16s rRNA~1/3 ATPase 6/8 and COI~3/4 ND5 regions were observed in different patterns. But, in the COI~1/3 ATPase 6/8 region, the data of PCR were observed in same pattern. This study supports the data that ET and PD are genentic disorders with deficiency of mitochondrial DNA multicomplexes.

• Pediatric Infection and Vaccine
• /
• v.25 no.3
• /
• pp.113-122
• /
• 2018

Purpose: The aim of this study was to evaluate the clinical characteristics of children diagnosed as cryopyrin-associated periodic syndrome (CAPS) in Korea. Methods: Diagnosis was made based on clinical features and confirmed by a mutation in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene. Especially, osteocartilaginous overgrowth in the patella or distal femur was so characteristic that its presence warranted a diagnosis of chronic infantile neurologic cutaneous and articular/NOMID. Results: We observed the clinical features of 9 Korean CAPS patients. All the patients suffered from an urticarial rash with recurrent fever. Among the 9 patients, 6 presented with rash and 4 with fever on the 1st or 2nd days of birth. Eight patients showed myalgia, and 7 patients showed arthralgia in the joints, and 6 patients showed radiologic findings of arthropathy including cupping of the metaphysis, excessive growth of the epiphysis, osteopenia or overgrowth of the cartilage. Four patients showed brain atrophy, enlarged ventricles or leptomeningeal enhancement on magnetic resonance imaging. Intellectual disability was observed in 1 patient. Five patients had eye involvement as conjunctivitis, uveitis, chorioretinitis, avascular area or papillary edema, and 3 patients showed progressive hearing loss. All 9 patients showed increased C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Conclusions: All the patients carried a mutation on exon 3 of the CIAS1 gene. After the anakinra (interleukin-1 receptor antagonist) therapy, the fever and rash immediately disappeared, and CRP and ESR were improved.