Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2001
Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Eter N, Klingmüller D, Höppner W, Spitznas M
Аннотация
BACKGROUND: Multiple endocrine neoplasia (MEN) type 2b syndrome is accompanied by typical ocular findings; however, the disease is often only diagnosed at an advanced stage by symptoms of C-cell carcinoma or pheochromocytoma and is then fatal in most cases. Therefore, the importance of ophthalmic assessment in making the diagnosis has to be stressed.
METHODS: The history and ocular findings of a patient with MEN 2b syndrome are described, and a brief overview of the syndrome is given.
RESULTS: Slit-lamp examination showed extremely thickened corneal nerves as well as multiple small plexiform and nodular subconjunctival tumors. Both eyes also displayed thickened upper and lower eyelids. A molecular genetic study of the RET proto-oncogene showed a heterozygous ATG to ACG mutation in codon 918 of exon 16.
CONCLUSION: Greatly thickened corneal nerves and subconjunctival tumors may be the first hint of MEN 2b. Whenever greatly thickened corneal nerves are detected, MEN 2b must be ruled out.
METHODS: The history and ocular findings of a patient with MEN 2b syndrome are described, and a brief overview of the syndrome is given.
RESULTS: Slit-lamp examination showed extremely thickened corneal nerves as well as multiple small plexiform and nodular subconjunctival tumors. Both eyes also displayed thickened upper and lower eyelids. A molecular genetic study of the RET proto-oncogene showed a heterozygous ATG to ACG mutation in codon 918 of exon 16.
CONCLUSION: Greatly thickened corneal nerves and subconjunctival tumors may be the first hint of MEN 2b. Whenever greatly thickened corneal nerves are detected, MEN 2b must be ruled out.
Предметные рубрики MeSH
Adrenal Gland NeoplasmsAdrenalectomyAdultCarcinoma, MedullaryConjunctival NeoplasmsCorneaCorneal DiseasesCranial Nerve DiseasesDNA Mutational AnalysisDrosophila ProteinsHumansMaleMultiple Endocrine Neoplasia Type 2bOphthalmic NervePheochromocytomaPoint MutationProto-Oncogene MasProto-Oncogene ProteinsProto-Oncogene Proteins c-retReceptor Protein-Tyrosine KinasesSyndromeThyroid NeoplasmsThyroidectomy