Open AccessRabson-Mendenhall syndrome in a 13 y.o. child (clinical case)
Author(s) -
Roza Atanesyan,
Атанесян Роза Артуровна,
Leonid Yakovlevich Klimov,
Климов Леонид Яковлевич,
Т. М. Вдовина,
Вдовина Татьяна Михайловна,
Tatiana Alexeevna Uglova,
Углова Татьяна Алексеевна,
Victoria Kuryaninova,
Курьянинова Виктория Александровна,
Lilit Samvelovna Alaverdyan,
Алавердян Лилит Самвеловна,
Elena Ivanovna Andreeva,
Андреева Елена Ивановна,
Г. А. Санеева,
Санеева Галина Александровна
Publication year - 2015
Publication title -
saharnyj diabet
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.155
H-Index - 12
eISSN - 2072-0378
pISSN - 2072-0351
DOI - 10.14341/dm20151110-114
Subject(s) - medicine , pediatrics , dermatology , disease , skin hyperpigmentation , ketoacidosis , diabetes mellitus , hyperpigmentation , type 1 diabetes , endocrinology
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.