• Journal of Chest Surgery
• /
• 제35권6호
• /
• pp.467-470
• /
• 2002

횡문근종은 영아에서 발생하는 일차 심종양중 가장 흔한 종양이며, 환자의 약 반수에서 결절성 뇌경화증을 동반한다. 이 종양이 대동맥하 협착을 유발할 경우 그 예후가 좋지 않으므로 수술의 적응증이 된다. 본 단국 대학교 흉부외과 교실에서는 결절성 뇌경화증을 동반한 좌심실내 횡문근종 1례를 수술 치험하였기에 보고하는 바이다.

• Tuberculosis and Respiratory Diseases
• /
• 제64권5호
• /
• pp.369-373
• /
• 2008

결절성경화증은 유전성 신경피부 증후군으로 피부, 뇌, 신장 등의 여러 장기에 과오종을 형성하는 질환이다. 결절성경화증의 폐 침범은 드물지만 다발성 미세결절의 소견을 보이는 경우, 정확한 진단을 위해서는 고해상 흉부 전산화 단층 촬영 및 조직 검사가 필요하겠으며, 다발성 미세결절폐세포증식증을 감별 진단으로 고려해야 할 것이다. 이 질환의 임상적 의의 등 아직 알려진 것이 많지 않으나 현재까지의 보고로는 특별한 치료는 없으며 예후는 좋은 것으로 알려져 있다.

• 대한한의학회지
• /
• 제36권2호
• /
• pp.50-55
• /
• 2015

Infants with tuberous sclerosis complex (TSC) have a higher chance of experiencing seizures before the age of 1 year; in particular, they commonly accompany infantile spasms. In cases where infantile spasms resulting from TSC are drug-resistant, more severe neuro-developmental and cognitive impairments occur. This particular case dealt with an infant with TSC who continued to experience partial seizures and infantile spasms despite using two different kinds of antiepileptic drugs (AEDs). His spasms ceased on the seventh day of taking modified Yukmijihwang-tang (YMJ), at which point he stopped the use of all AEDs. He became seizure-free after a month of the treatment and modified hypsarrythmia was found to have been resolved in the electroencephalogram test. Until now, the infant has been taking YMJ for 16 months and is maintaining the seizure-free state without side effects. Moreover, his developmental status is continually improving, with a significant progress in language and cognitive-adaptive abilities. Such results suggest that YMJ can serve as an alternative treatment option for refractory epilepsy.

• Journal of Chest Surgery
• /
• 제21권4호
• /
• pp.766-771
• /
• 1988

Von Recklinghausen`s neurofibromatosis, tuberous sclerosis and encephalotrigeminal angiomatosis[Sturge-Kalischer-Weber syndrome] are frequently classified under the heading of organic neurocutaneous syndromes. Both neurofibromatosis and tuberous sclerosis are believed to represent instances of simple autosomal dominant heredity. Multiple neurofibroma and cafe*-au-lait spots are the hallmarks of the van-Recklinghausen`s disease. The characteristic features of the fully developed syndrome are [1] pigmentation of the skin, including cafe*-au-lait spots, pigmented freckles and males, and occasionally a generalized darkening of the skin; [2] subcutaneous nodules and deep neurofibromatous tumors and diffuse plexiform growths of neural tissue; [3] skeletal anomalies, especially scoliosis; and [4] predilection to malignancy. In recent years cystic lung disease, usually of the so-called honeycomb lung variety, has been reported on several occasions in patients with tuberous sclerosis. This association has been shown to our sporadically as well as in members of a single family. Little attention has been paid to the presence of cystic lung disease in association with neurofibromatosis. Currently, most think of thoracic involvement in neurofibromatosis in terms of posterior mediastinal neuroma, pheochromocytoma, meningocele or, less commonly, parenchymal pulmonary neurofibromatosis. Author have experienced a case of von Recklinghausen`s disease. This case developed a huge neurofibroma in the both side thorax and invaded to the Lt. 7th rib.

• Tuberculosis and Respiratory Diseases
• /
• 제42권2호
• /
• pp.244-249
• /
• 1995

저자들은 단순흉부촬영상 속립성 결핵으로 진단받고 항결핵제를 투여받고 있던 26세 여자환자에서 폐생검상 폐의 임파관평활근종증을 확진한 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 대한두개안면성형외과학회지
• /
• 제18권3호
• /
• pp.202-206
• /
• 2017

Angiomyolipomas are hamartomatous lesions consisting of smooth muscle bundles, thick-walled blood vessels, and mature adipocytes. They are usually found in the kidneys of tuberous sclerosis patients and more rarely in other organs, such as the liver, the oral cavity, the sinonasal tract, the heart, the large intestines, the lungs, and the skin. Cutaneous angiomyolipoma has shown to be very rare and generally occurs at the ends of the digits, the elbows, the ears, and the nose. Herein, we report the first documented case of angiomyolipoma of the glabellar region.

• 대한두개안면성형외과학회지
• /
• 제24권2호
• /
• pp.83-86
• /
• 2023

Angiomyolipomas are usually found in the kidneys of patients with tuberous sclerosis. They occur less frequently in organs such as the liver, the oral cavity, the nasal cavity, the heart, the large intestines, and the lungs. Angiomyolipomas of the skin are extremely rare, and cutaneous angiomyolipomas generally occur on the elbow, the ends of digits, the ear, and the glabella. Herein we present a rare case of angiomyolipoma occurring on the face-specifically, the right upper eyelid. We propose that upper eyelid angiomyolipoma is a hamartomatous, rather than neoplastic, lesion. Although angiomyolipoma in the periocular area is rare, it should be considered in the differential diagnosis of clinically benign masses. and regular follow-up is warranted.

• Childhood Kidney Diseases
• /
• 제18권2호
• /
• pp.132-136
• /
• 2014

결절성 경화증은 과오종의 발생을 특징으로 하는 유전질환으로, 피부, 뇌, 심장, 눈, 폐, 구강, 신장 등의 다양한 장기들을 침범한다. 신장에서 관찰 가능한 다양한 병변들은 발생 빈도와 사망률이 높기 때문에 주의를 필요로 하며, 신장 증상의 이른 발생 시기를 고려하여 소아 연령에서부터 적절한 진단과 관리가 중요하다. 저자들은 소아 연령에서 발생한 거대 혈관근육지방종, 신세포암, 신경색, 신낭종, 그리고 신결석증 등이 동반된 결절성 경화증 4례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
• /
• 제13권1호
• /
• pp.36-40
• /
• 2016

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.

• Journal of Korean Neurosurgical Society
• /
• 제41권6호
• /
• pp.397-402
• /
• 2007

Objective : Balloon cells and dysplastic neurons are histopathological hallmarks of the cortical tubers of tuberous sclerosis complex [TSC] and focal cortical dysplasia [FCD] of the Taylor type. They are believed to be the epileptogenic substrate and cause therapeutic drug resistant epilepsy in man. P-glycoprotein [P-gp] is the product of multidrug resistance gene [MDR1], and it maintains intracellular drug concentration at a relatively low level. The authors investigated expression of P-gp in balloon cells and dysplastic neurons of cortical tubers in patients with TSC. Methods : An immunohistochemical study using the primary antibody for P-gp, as an indicative of drug resistance, was performed in the cortical tuber tissues in two patients of surgical resection for epilepsy and six autopsy cases. Results : Balloon cells of each lesion showed different intensity and number in P-gp immunopositivity. P-gp immunopositivity in balloon cells were 28.2%, and dysplastic neurons were 22.7%. These immunoreactivities were more prominent in balloon cells distributed in the subpial region than deeper region of the cortical tubers. Capillary endothelial cells within the cortical tubers also showed P-gp immunopositivity. Conclusion : In this study, the drug resistance protein P-glycoprotein in balloon cells and dysplastic neurons might explain medically refractory epilepsy in TSC.