• Journal of the Korean Child Neurology Society
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• v.25 no.3
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• pp.200-203
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• 2017

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the ${\beta}-III$ spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.

• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1071-1076
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• 2018

Purpose: To report a case of immunoglobulin G4 (IgG4)-related ophthalmic disease associated with adult xanthogranulomatous disease. Case summary: A 38-year-old male with a history of cholecystectomy visited our clinic for bilateral periorbital swelling. Histopathology of the orbital biopsy showed diffuse infiltration of foamy histiocytes with Touton giant cells and lymphoid follicles, with a diagnosis of adult-onset xanthogranuloma. After excisional biopsy, he was treated with azathioprine and prednisolone. Four years after treatment, he again visited the clinic due to bilateral, yellowish eyelid masses. Serological examinations were all nonspecific findings, except for elevation of IgG and IgG4 levels. Magnetic resonance imaging showed bilateral symmetric soft tissue enlargement with slightly heterogeneous T1/T2 isosignal intensity, with contrast enhancement at the superolateral aspect of extraconal spaces. Excisional biopsy and blepharoplasty were performed. Immunohistochemical sections showed that the IgG4+/IgG plasma cell ratio was 10-20% and the IgG4 plasma cell count was 22/high power field (HPF). His past sections of 2013 from the pathology department were again stained and showed that the IgG4+/IgG plasma cell ratio was 40-50% and the IgG4 plasma cell count was 59/HPF. Thus, he was definitely diagnosed with IgG4-related ophthalmic disease. Conclusions: If there is recurrent eyelid swelling, IgG4-related ophthalmic disease should be considered as a differential diagnosis. And the patient with adult xanthogranulomatous disease can be diagnosed with IgG4-related ophthalmic disease.

• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1097-1102
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• 2018

Purpose: To report a case of toxic optic neuropathy caused by chlorfenapyr ingestion accompanied by central nervous system involvement. Case summary: A 44-year-old female visited our clinic complaining of reduced visual acuity in both eyes for 7 days. She had ingested a mouthful of chlorfenapyr for a suicide attempt 2 weeks prior to the visit. Gastric lavage was performed immediately after ingestion at the other hospital. Her best-corrected visual acuity was finger count 30 cm in the right eye and hand motion in the left eye. Both pupils were dilated by 5.0 mm and the response to light was sluggish in both eyes. A relative afferent pupillary defect was detected in her left eye. Funduscopy revealed optic disc swelling in both eyes. Magnetic resonance imaging of the brain showed a symmetric hyper-intense signal in the white matter tract including the internal capsule, corpus callosum, middle cerebellar peduncle, and brainstem. The patient was diagnosed with toxic optic neuropathy induced by chlorfenapyr ingestion, and underwent high-dose intravenous corticosteroid pulse therapy. Three days later, the best-corrected visual acuity was no light perception in both eyes. Three months later, optic atrophy was observed in both eyes. Optical coherence tomography revealed a reduction in the thicknesses of the retinal nerve fiber layer and ganglion cell and inner plexiform layer in the macular area. Conclusions: Ingestion of even a small amount of chlorfenapyr can cause severe optic nerve damage through the latent period, despite prompt lavage and high-dose steroid treatment.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.284-287
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• 2018

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutation of one of two genes, TSC1 (encoding hamartin, 9q34) and TSC2 (encoding tuberin, 16p13). It invades the central nervous system and various parts of the body, causing various symptoms. Crohn's disease (CD) is a chronic immune-mediated disease that has not been clearly elucidated. It is thought to be caused by an excessive immune response of the body to bacteria that normally exist in the digestive tract with genetic factors. No cases have been reported in which both of the above-mentioned diseases occurred simultaneously. We report a case of CD in a patient with TSC. A 12-year-old boy was brought to our hospital because of abdominal pain. Skin lesions were observed in the TSC. Fundus examination revealed a hamartoma in the right retina. Brain magnetic resonance imaging revealed a subendothelial giant cell astrocytoma (SEGA). On the basis of these findings, he was diagnosed as having TSC. Blood test results showed increased levels of inflammatory markers. On abdominal ultrasonography, his colon walls were observed to be thickened with increased vascularity of the proximal ascending colon, ileocecal valve, and terminal ileum. Colonoscopy revealed discontinuous ulcerations and inflammations of the ileum, IC valve, and cecum, similar to those found in CD. Everolimus was administered orally for the SEGA but was discontinued frequently owing to the exacerbation of CD. The possibility of CD should be kept in mind in patients with TSC considering to undergo treatment for SEGA.

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

• Korean Journal of Radiology
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• v.19 no.6
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• pp.1179-1186
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• 2018

Objective: The purposes of this study were to evaluate size-specific dose estimate (SSDE) of low-dose CT (LDCT) in the Korean Lung Cancer Screening (K-LUCAS) project and to determine whether CT protocols from Western countries are appropriate for lung cancer screening in Korea. Materials and Methods: For participants (n = 256, four institutions) of K-LUCAS pilot study, volume CT dose index ($CTDI_{vol}$) using a 32-cm diameter reference phantom was compared with SSDE, which was recalculated from $CTDI_{vol}$ using size-dependent conversion factor (f-size) based on the body size, as described in the American Association of Physicists in Medicine Report 204. This comparison was subsequently assessed by body mass index (BMI) levels (underweight/normal vs. overweight/obese), and automatic exposure control (AEC) adaptation (yes/no). Results: Size-specific dose estimate was higher than $CTDI_{vol}$ ($2.22{\pm}0.75mGy$ vs. $1.67{\pm}0.60mGy$, p < 0.001), since the f-size was larger than 1.0 for all participants. The ratio of SSDE to $CTDI_{vol}$ was higher in lower BMI groups; 1.26, 1.37, 1.43, and 1.53 in the obese (n = 103), overweight (n = 70), normal (n = 75), and underweight (n = 4), respectively. The ratio of SSDE to $CTDI_{vol}$ was greater in standard-sized participants than in large-sized participants independent of AEC adaptation; with AEC, SSDE/$CTDI_{vol}$ in large- vs. standard-sized participants: $1.30{\pm}0.08$ vs. $1.44{\pm}0.08$ (p < 0.001) and without AEC, $1.32{\pm}0.08$ vs. $1.42{\pm}0.06$ (p < 0.001). Conclusion: Volume CT dose index based on a reference phantom underestimates radiation exposure of LDCT in standard-sized Korean participants. The optimal radiation dose limit needs to be verified for standard-sized Korean participants.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.74-78
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• 2019

Atypical teratoid rhabdoidal tumor(AT/RT) is a rare and fast-growing tumor usually diagnosed in childhood. Routine magnetic resonance imaging(MRI) assessment of AT/RT patients is done to detect metastatic tumors and recurrent lesions. The purpose of this case report is to present a case about caries treatment of a 3-year-8-month old female patient with AT/RT under general anesthesia. A 3-year-8-month old patient with AT/RT visited Seoul National University Dental Hospital for caries treatment. At the first dental visit, she was receiving chemotherapy. Multiple caries were observed from clinical and radiographic examination. The dental procedure was successfully performed under general anesthesia. Patients with brain tumor may take routine MRI to detect metastatic tumors and recurrent lesions. Dentists should take into consideration of possible dislodgement of restoration by ferromagnetic properties and artifact formation on MRI image. Ready-made zirconia crowns can be a good restoration option for such patients.

• Pediatric Infection and Vaccine
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• v.28 no.2
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• pp.110-117
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• 2021

Toxic megacolon is a fatal complication of inflammatory or infectious bowel disease. Prognosis depends on the severity of the disease. In cases of poor prognosis, clinical outcomes range from intestinal resection to death, so early diagnosis and appropriate treatment are very important. However, the prevalence of toxic megacolon in children is very low, and in those without underlying diseases such as inflammatory bowel disease, early diagnosis may be delayed. A previously healthy 12-year-old boy presented to our hospital with lower abdomen pain, fever, and hematochezia. Despite antibiotic therapy, the symptoms worsened. On the third day, abdominal computed tomography revealed severe dilatation of the transverse colon, which indicated toxic megacolon. Stool culture was positive for Salmonella enteritidis group D, and rectal endoscopy showed no signs of inflammatory bowel disease. Ceftriaxone and intravenous methylprednisolone were administered, and the patient's condition improved without any complications. We report a case of toxic megacolon as a complication of infectious colitis caused by S. enteritidis group D, which was diagnosed using early imaging and successfully treated without surgical intervention.

• Journal of Korean Foot and Ankle Society
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• v.26 no.2
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• pp.95-102
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• 2022

Purpose: This study was based on the Korean Foot and Ankle Society (KFAS) member survey and aimed to report the current trends in the management of syndesmotic injuries over the last few decades. Materials and Methods: A web-based questionnaire containing 36 questions was sent to all KFAS members in September 2021. The questions were mainly related to the preferred techniques and clinical experiences in the treatment of patients with syndesmotic injuries. Answers with a prevalence ≥50% of respondents were considered a tendency. Results: Seventy-six (13.8%) of the 550 members responded to the survey. The results showed that the most preferred method to diagnose a syndesmotic injury was magnetic resonance imaging (MRI). Intraoperatively, the external rotation stress test and the Cotton test were most frequently used to confirm syndesmotic diastasis. The reduction was usually done by a reduction clamp. One 3.5-mm screw was used most frequently over three cortices at 2~4 cm above the ankle joint. The preferred ankle position during fixation was 0° dorsiflexion. Removal of the syndesmotic screw was routinely done by most surgeons, mainly because of the limitation of movement and risk of screw breakage. Factors that affect suture button selection included non-rigid fixation which enables adequate fixation, early weight-bearing, and an infrequent need to remove the hardware. Inadequate reduction was considered the main factor that affects poor prognosis. Conclusion: This study proposes updated information about the current trends in the management of syndesmotic injuries in Korea. Consensuses in both the diagnostic and therapeutic approach to patients with syndesmotic injury were identified in this survey study. This study may raise the awareness of the various possible approaches toward the injury and should be used to further establish a standard protocol for the management of syndesmotic injuries.

• The Journal of Churna Manual Medicine for Spine and Nerves
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• v.16 no.2
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• pp.79-86
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• 2021

Objectives This study aimed to assess the role of complex Korean medicinal treatment with Chuna manual therapy in two patients with chronic pain after posterior lumbar fusion surgery. Methods A retrospective analysis was performed on 2 patients postoperatively based on their medical records. The surgery regions were verified using T2-weighted axial magnetic resonance imaging. Patients with chronic pain after spondylolisthesis posterior lumbar fusion surgery received complex Korean medicinal treatment with Chuna manual therapy during hospitalization. Numeric rating scale (NRS) in the degree of 0-10 and Oswestry disability index (ODI) were measured before and after treatment. Results Case 1 had an improved NRS score from 7 to 4, and Case 2 had an improved NRS score from 7 to 5. In addition, ODI score improved in both cases. Conclusions Complex Korean medicinal treatment with Chuna manual therapy is effective for relief from chronic pain after posterior lumbar fusion surgery.