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: Roza Arturovna Atanesyan, Leonid Yakovlevich Klimov, Tatiana Michailovna Vdovina, Tatiana Alexeevna Uglova, Victoria Alexandrovna Kuryaninova, Lilit Samvelovna Alaverdyan, Elena Ivanovna Andreeva, Galina Alexandrovna Saneeva
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RU
Publicado: Endocrinology Research Centre 2015
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spelling oai:doaj.org-article:e37eac358e944d8abb73e831546de63f2021-11-14T09:00:19ZRabson-Mendenhall syndrome in a 13 y.o. child (clinical case)2072-03512072-037810.14341/DM20151110-114https://doaj.org/article/e37eac358e944d8abb73e831546de63f2015-03-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/6815https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378We 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.Roza Arturovna AtanesyanLeonid Yakovlevich KlimovTatiana Michailovna VdovinaTatiana Alexeevna UglovaVictoria Alexandrovna KuryaninovaLilit Samvelovna AlaverdyanElena Ivanovna AndreevaGalina Alexandrovna SaneevaEndocrinology Research Centrearticleinsulin resistancehyperglycaemiarabson-mendenhall syndromeNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 18, Iss 1, Pp 110-114 (2015)
institution DOAJ
collection DOAJ
language EN
RU
topic insulin resistance
hyperglycaemia
rabson-mendenhall syndrome
Nutritional diseases. Deficiency diseases
RC620-627
spellingShingle insulin resistance
hyperglycaemia
rabson-mendenhall syndrome
Nutritional diseases. Deficiency diseases
RC620-627
Roza Arturovna Atanesyan
Leonid Yakovlevich Klimov
Tatiana Michailovna Vdovina
Tatiana Alexeevna Uglova
Victoria Alexandrovna Kuryaninova
Lilit Samvelovna Alaverdyan
Elena Ivanovna Andreeva
Galina Alexandrovna Saneeva
Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
description 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.
format article
author Roza Arturovna Atanesyan
Leonid Yakovlevich Klimov
Tatiana Michailovna Vdovina
Tatiana Alexeevna Uglova
Victoria Alexandrovna Kuryaninova
Lilit Samvelovna Alaverdyan
Elena Ivanovna Andreeva
Galina Alexandrovna Saneeva
author_facet Roza Arturovna Atanesyan
Leonid Yakovlevich Klimov
Tatiana Michailovna Vdovina
Tatiana Alexeevna Uglova
Victoria Alexandrovna Kuryaninova
Lilit Samvelovna Alaverdyan
Elena Ivanovna Andreeva
Galina Alexandrovna Saneeva
author_sort Roza Arturovna Atanesyan
title Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
title_short Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
title_full Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
title_fullStr Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
title_full_unstemmed Rabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
title_sort rabson-mendenhall syndrome in a 13 y.o. child (clinical case)
publisher Endocrinology Research Centre
publishDate 2015
url https://doaj.org/article/e37eac358e944d8abb73e831546de63f
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AT tatianamichailovnavdovina rabsonmendenhallsyndromeina13yochildclinicalcase
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