| A case of atypical neurofibromatosis type 1. |
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Eun Joo Choi, Young Hyuk Lee, Min Hee Kim, Kyo Sun Kim |
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Department of Pediatrics, Konkuk University, College of Medicine, Seoul, Korea |
| 비전형적 제 1 형 신경섬유종증 1례 |
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최은주, 이영혁, 김민희, 김교순 |
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건국대학교 의과대학 소아과학교실 |
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Received: 23 January 1991 • Accepted: 23 March 1991 |
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| Abstract |
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Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin.
These macules are thought to be early sign of neurofibromatosis in childhood.
We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have
caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity
and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly.
We confirmed the case by the histopathology of subcutaneous neurofibroma.
A brief review of the related literature is also presented. |
| Key Words:
Atypical Neurofibromatosis Type I, Progressive Psychomotor Retardation |
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