English Journal
- [Tuberous sclerosis without mental impairment, diagnosed in adulthood].
- Timotin L, Sarrot-Reynauld F, Lantuejoul S, Pasquier B, Massot C, Ashraf A, Borgel F.SourceDépartement pluridisciplinaire de médecine, médecine interne, CHU de Grenoble, BP 217, 38043 Grenoble cedex 09, France.
- La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne.Rev Med Interne.2005 Jun;26(6):511-3. Epub 2005 Feb 12.
- INTRODUCTION: Tuberous sclerosis complex (TSC) is an autosomal dominant inherited phakomatosis, usually diagnosed in childhood and characterized by cutaneous and neurological tumors, the latter often leading to epilepsy and mental retardation.EXEGESIS: We report a case of TSC diagnosed in a 33-year-
- PMID 15936480
Japanese Journal
- A maintenance hemodialysis patient with tuberous sclerosis presenting as severe hypocalcemia.
- 岡田 一義,久野 勉,島田 明仁,佐藤 光重,井上 通泰,栃原 敏彦,奈倉 勇爾,高橋 進,波多野 道信
- 日本腎臓学会誌 28(11), 1545-1552, 1986
- … BUN 94.6 mg/ dl, Cr 7.6mg/dl, Ccr 3.8 ml/min, Ca 3.5 mg/dl, Pi 7.4 mg/dl, ALP 305 mIU, C-PTH 2.5 ng/dl, Hb 6.5g/dl and Ht 20% A diagnosis of tuberous sclerosis was reached based on the typicalskin lesions, mental deficiency, periventricular calcifications and phakomas in the retina, Angiomyolipomas and cystic lesions were found in both kidneys by ultrasound examination, computerized tomography scan and angiographyo The severe hypocalcemia may have been due to disturbance of 25-hydroxyvitamin D3-1..-hydroxylation and the influence of anticonvulsant drugs. …
- NAID 130004169163
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- phakoma [fah-ko´mah] 1. an occasional small, grayish white tumor seen microscopically in the retina in tuberous sclerosis. 2. a patch of myelinated nerve fibers seen very infrequently in the retina in neurofibromatosis. pha·co·ma (fa ...
- A retinal phakoma is a gray or yellow plaque, single or multiple, which may be found in the retina, or in or near the optic disc or at a distance from it. It may be caused by tuberous sclerosis.
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