Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
We present a case of a teenage boy with a Rabson-Mendenhall syndrome. There are only few recent publications on the topic of Rabson-Mendenhall syndrome in medical literature. This syndrome appears with a same frequency in both sexes. The disease prevalence is still unknown due to many undiagnosed ca...
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| Autores principales: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN RU |
| Publicado: |
Endocrinology Research Centre
2015
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/e37eac358e944d8abb73e831546de63f |
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| Sumario: | We present a case of a teenage boy with a Rabson-Mendenhall syndrome. There are only few recent publications on the topic of Rabson-Mendenhall syndrome in medical literature. This syndrome appears with a same frequency in both sexes. The disease prevalence is still unknown due to many undiagnosed cases linked with high mortality in early childhood. There are no prenatal screening for this disease till now, but it is clear, that in case of positive diagnostic tests, abortion should be recommended. The typical clinical symptoms of Rabson-Mendenhall syndrome are the following: physical development delay, loss of subcutaneous fat, teeth and nails abnormalities (premature teeth eruption, teeth number doubling, nails thickening). The earliest signs of the syndrome are skin hyperpigmentation and hyperkeratosis at neck, armpits and groin, which are typical for insulin resistance. Children with Rabson-Mendenhall syndrome usually have early manifestation of diabetes mellitus, characterized by labile disease course and frequent ketoacidosis state. The present clinical case might be interesting regarding a long follow-up of the child. |
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