rabson-mendenhall syndrome: a case report

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

INTRODUCTION Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. CASE PRESENTATION We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephrome...

Rabson Mendenhall Syndrome caused by a novel missense mutation

BACKGROUND Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary appro...

Sheehan Syndrome: A Case Report

'rwo cases of post-partum amenorrhea with other clinical signs of She1ehan syndrom was studied at the Loghmandoleh Medical Center, National University of Iran.  Clinical diagnosis was confirmed by appro­priate laboratory work -up in the f.irSlt case and the patient was placed on the conventional end orga.n hormon substitutional therapy (Thy­roid -Gonad -Adrenal) and was discharged in good cond...

Pendred Syndrome: A Case Report

In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving  a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule.  A case of pendred's syndrome is presented  in a 16-year-old girl. This girl has never been able to...

Apert Syndrome: A Case Report

Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.

Cogan’s Syndrome: A Case Report