• Journal of Korean Neurosurgical Society
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• v.54 no.5
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• pp.415-419
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• 2013

Hemangioblastomas are sporadic tumors found in the cerebellum or spinal cord. Supratentorial hemangioblastomas are rare, and those with meningeal involvement are extremely rare and have been reported in only approximately 130 patients. Here, we report the case of a 51-year-old female patient with supratentorial meningeal hemangioblastoma detected 5 years after surgical resection of an infratentorial hemangioblastoma associated with von Hippel-Lindau disease. Patients with von Hippel-Lindau syndrome are at risk for developing multiple hemangioblastomas, with new tumor formation and growth and possible meningeal infiltration. Regular lifelong follow-up in at-risk patients is recommended and should include the differential diagnosis of dural-based tumors such as angioblastic meningioma and metastatic renal cell carcinoma.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.43 no.4
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• pp.282-285
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• 2017

Actinomycosis is an infrequent chronic infection regarded as the most misdiagnosed disease by experienced clinicians. The Office of Rare Diseases at the National Institute of Health has also listed this disease as a "rare disease." This article presents a case report of actinomycosis of the alveolus with unusual clinical features but a successful resolution. It also states the importance of biopsy of deceptive inflammatory lesions that do not respond or recur after conventional treatment modalities.

• Journal of Physiology & Pathology in Korean Medicine
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• v.24 no.2
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• pp.197-205
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• 2010

The association between five limpness(五軟), five stiffness(五硬), five retardation and disease have been repeatedly shown in patient. However, comparative study has been rare. This study arrange disease, which answer to five limpness, five stiffness, five retardation and classify by epiologic diagnosis. We search for scientific journals, medical college texts, theses of a degree and collect case reports. In this study we found that the five retardation(N=56) is showing numerous more than the others. The five stiffness(N=14) is showing rare than the five limpness(N=29). The five limpness is overlapping more than 90% with five retardation. and the five stiffness is overlapping 80% with five retardation. Symptom of five limpness, five stiffness, five retardation is coming out independent and overlapping each others. And generally it accompanies with abnormality in central nervous system.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.1-5
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• 2015

De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.

• Journal of Yeungnam Medical Science
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• v.35 no.2
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• pp.232-235
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• 2018

Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with de novo FD. Comprehensive ophthalmological evaluation was performed using slit lamp, color fundus photography, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. On slit lamp examination, cornea verticillata and slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels were observed. Other imaging modalities showed unremarkable findings. Cornea verticillata and inferior bulbar conjunctival vascular abnormalities may be detected earlier than other ocular abnormalities in de novo FDs like hereditary FDs.

• Archives of Plastic Surgery
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• v.49 no.3
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• pp.418-422
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• 2022

Acquired cutis laxa is a rare disease. Owing to few reports on the condition, no statistical data have been produced. Cutis laxa is characterized by drooping skin, caused by decreased levels of dermal elastin, leading to reduced skin elasticity. The disease usually emerges on the neck or trunk and spreads throughout the body; however, it rarely involves the extremities. Moreover, cases localized to the face are rare. The objective of this clinical case report was to highlight this unusual disease in a 24-year-old female, with localization on the face and neck. The patient underwent surgery for treatment of bilateral ear lobe and eyelid skin laxity.

• Hip & pelvis
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• v.34 no.2
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• pp.122-126
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• 2022

Tumoral calcinosis is a rare disease characterized by massive subcutaneous soft tissue deposits of calcium phosphate around large joints in patients with chronic kidney disease. Invasion of bone by tumoral calcinosis is rare. We experienced a case involving a femoral neck pathologic fracture due to bony invasion of tumoral calcinosis in a 46-year-old female with chronic kidney disease who had been on dialysis for 15 years. Successful outcomes were obtained by performance of total hip arthroplasty for treatment of the pathologic fracture of the femoral neck. Careful precaution is necessary to prevent pathologic fractures in patients with tumoral calcinosis around the hip joint.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.1
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• pp.80-83
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• 2008

Behcet's disease (BD) is a multisystem inflammatory disorder dominated clinically by recurrent oral and genital ulceration, uveitis and erythema nodosum. BD is very rare in children, especially those less than 10 years of age, who account for only an estimated 5% of all cases. Gastrointestinal ulcers, in patients with Behcet's disease with intestinal involvement are rare and have been reported in only 1-2% of all cases. The intestinal ulcers of Behcet's disease are usually multiple and scattered and tend to cause perforations associated with significant morbidity. Patients with BD and abdominal symptoms must be evaluated thoroughly for potential perforation of the gastrointestinal tract. Here we report the case of a 4 year 9 month old child with multiple perforations of the gastrointestinal tract associated with BD.

• Journal of Yeungnam Medical Science
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• v.29 no.1
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• pp.38-41
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• 2012

Behcet's disease is a rare multisystemic disorder whose main pathological defectis vasculitis, and superior vena cava (SVC) syndrome without thrombosis is a very rare manifestation of the disease. These authors encountered a case of SVC syndrome without thrombosis caused by Behcet's disease. A 33-year-old man visited the hospital for aggravated dyspnea without any related medical and familial history. He had a threeday history of abrupt swelling of the face, neck, and right arm. He suffered from recurrent oral ulcer, and there were acneiform nodules on his face as well as redness and swelling at the site of the intravenous injection. On the multi-detected computed tomography (CT) chest angiograms (chest angio MDCT), the SVC narrowed without thrombosis. Venogram was carried out, and percutaneous transluminal balloon angioplasty of the SVC stenotic site was performed. The following day, the swelling was found to have subsided. The details of the case are reported herein.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.9-14
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• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.