• 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.

• Tuberculosis and Respiratory Diseases
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• v.64 no.5
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• pp.369-373
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• 2008

Tuberous sclerosis (TS) is an autosomal dominant disorder that is characterized by cutaneous lesions, seizures, mental retardation and hamartomas in various organs including the skin, kidney and brain. Pulmonary involvement is extremely rare, and occurs in approximately 0.1 to 1% of TS cases. Recent reports have indicated multiple micronodular pneumocyte hyperplasia (MMPH) as another rare form of pulmonary involvement of tuberous sclerosis. We report a case of a 35 year-old-male patient who had no pulmonary symptoms but showed multinodular pulmonary shadows on his chest CT scan. The patient was finally diagnosed with TS with MMPH of the lung. MMPH does not appear to have any malignant potential but the clinical significance of MMPH in TS patients is unknown.

• Tuberculosis and Respiratory Diseases
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• v.39 no.6
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• pp.542-547
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• 1992

Tuberous sclerosis is an autosomal dominant disorder characterized by mental retardation, epilepsy, and adenoma sebaceum. Associated lesions include retinal phacomata, shagreen patches, subungal fibromata, and benign visceral tumors such as pulmonary lymphangioleiomyomatosis. Lymphangioleiomyomatosis occurs exclusively in women, usually during the child-bearing years, and is characterized by proliferation of smooth muscle along the lymphatic vessels of the lung, thorax, abdomen. Proliferation of smooth muscle results in interstitial and obstructive lung disease, recurrent pneumothorax, and chylous pleural effusions. We saw two cases of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in women of reproductive age. We report the cases with a brief review of the literatures.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.1 no.1
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• pp.33-36
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• 2005

Manifestations in tuberous sclerosis such as seizure, mental retardation, end-stage renal disease (ESRD), and heart problems present a number of challenges to the dentist and anesthesiologist. Lack of cooperation in addition to the severe medical condition makes dental treatment more difficult. General anesthesia is often required for mentally and physically handicapped patients undergoing extensive dental treatment. We experienced a case of dental treatment under general anesthesia in a 36-year-old male patient with tuberous sclerosis associated with ESRD and mental retardation. He was treated on an outpatient basis followed by hemodialysis without any complications.