• The Journal of the Korean bone and joint tumor society
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• v.15 no.1
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• pp.34-43
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• 2009

Purpose: Glomus tumors are rare benign vascular tumors, usually located in the skin or soft tissue of extremities. Approximately 30-50% of glomus tumors occur in subungal area, but glomus tumors have been described in every location even where glomus bodies are not or rarely present. The purpose of this study was to identify clinical, histologic and MRI characteristics of soft tissue glomus tumor. Materials and Methods: Between 1993 and 2008, eight patients underwent surgery of soft tissue Glomus tumor at our institution. Exclusion criteria were patients with Glomus tumors in digits, stomach, trachea and glomus tympanicum. We analyzed medical records, interviews, physical examinations, MR findings and histolocial types retrospectively. Results: There were four men and four women. The mean age was fourty-seven years. The mean prevalence time was eight-point-nine years. In the classic triad of symptoms, all eight patients had pain and tenderness. Two patients complained of cold sensitivity. Two showed skin color changes. After surgery, two showed symptom improvement (VAS $9^{\circ}{\rightarrow}8$, $8^{\circ}{\rightarrow}5$) and?six showed complete disappearance of symptoms. Slightly symptom improvemented (VAS $9^{\circ}{\rightarrow}8$) one had additional surgery two times after first surgery due to relapse/remaining Glomus tumor. The mean size was 13.9 mm. In histology, six were 'solid glomus tumor', one was a mixture of 'solid glomus tumor' and 'lomangioma' and one was 'malignant glomus tumor'. MR findings showed isointense signal on T1 image, high signal on T2 image and strong enhancement on the Gadolinium enhanced image. Conclusion: Glomus tumor has low recurrence rate and malignant change, rapid diagnosis and surgical excision is critical in treatment to prevent unnecessary pain of patient.

• The Korean Journal of Nuclear Medicine
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• v.33 no.2
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• pp.111-119
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• 1999

Purpose: As mesial temporal lobe epilepsy (TLE) shows hypometabolism of medial and lateral temporal lobe, we investigated whether symmetric uptake of F-18-FDG in medial temporal lobes can differentiate mesial from lateral TLE. Materials and Methods: In 113 patients (83 mesial TLE, 30 lateral TLE) who underwent anterior temporal lobectomy and/or corticectomy with good surgical outcome, we performed F-18-FDG PET and compared F-18-FDG uptake of medial and lateral temporal lobes. All the patients with mesial TLE had hippocampal sclerosis except one congenital abnormal hippocampus. Patients with lateral TLE revealed cerebromalacia, microdysgenesis, arteriovenous malformation, old contusion, and cortical dysplasia. Results: Sensitivity of F-18-FDG PET and MR for mesial TLE was 84% (70/83) and 73% (61/83), respectively. Sensitivity of F-18-FDG PET and MR for lateral TLE was 90% (27/30) and 66% (20/30), respectively. Twelve patients were normal on F-18-FDG PET. 101 patients had hypometabotism of lateral temporal lobe. Among 88 patients who showed hypometabolism of medial temporal lobe as well as lateral temporal lobe, 70 were mesial TLE patients and 18 were lateral TLE on pathologic examination. Positive predictive value of medial temporal hypometabolism for mesial TLE was 80%. Among 13 patients who showed hypometabolism of only lateral temporal lobe, 4 were mesial TLE and 9 were lateral TLE. Positive predictive value of hypometabolism of lateral temporal lobe for the diagnosis of lateral TLE was 69% (9/13). Normal MR findings stood against medial TLE, whose negative predictive value was 66%. Conclusion: Lateral temporal lobe epilepsy should be suspected when there is decreased F-18-FDG uptake in lateral temporal lobe with normal uptake in medial temporal lobe.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.