Presentation
Rabson-Mendenhall syndrome (RMS) is a rare disorder that presents as severe insulin resistance as a result of mutations present in the insulin receptor (INSR). [ncbi.nlm.nih.gov]
Entire Body System
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Nail Abnormality
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). [endojournals.ru]
abnormalities, skin lesions Pineal hypertrophic syndrome - Dental and nail abnormalities, sexual precocity Alstrom syndrome - Childhood blindness, impaired hearing Ataxia-telangiectasia - Movement disorder and symptoms related to immune deficiency, such [emedicine.medscape.com]
Respiratoric
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Saddle Nose
Septal perforation, numb teeth, and a saddle nose are potential late complications but much less important than those of subfrontal retraction via a craniotomy. [jnnp.bmj.com]
Gastrointestinal
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Left Flank Pain
flank pain, associated microscopic haematuria, and albuminuria on dipstick examination. [jdmdonline.biomedcentral.com]
Jaw & Teeth
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Malocclusion
Facial dysmorphism characterized by small head, large ears, broad nose, prognathism, malocclusion of teeth were noted along with prominent nipples. [ijpeonline.biomedcentral.com]
Neurologic
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Vertigo
[…] levels are amenorrhoea/galactorrhea in females, hypogonadism, gynecomastia and erectile dysfunction in males, and loss of axillary/pubic hair; while, those that are caused by mass effect are bitemporal hemianopsia (due to pressure on optic chiasma), vertigo [ijem.in]
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Learning Difficulties
Formal assessment showed that this boy also has moderate learning difficulties. Investigations revealed significantly raised Random blood sugar (RBS), Fasting blood sugar (FBS)and Glycated Hemoglobin (HbA1c) (Table 1 ). [ijpeonline.biomedcentral.com]
Urogenital
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Polyuria
Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran. [journals.sbmu.ac.ir]
She was diagnosed as case of type i diabetes mellitus (DM) at the age of 4 years due to the complaints of polyuria, polydipsia and weight loss. She was being treated with insulin since then. [endocrine-abstracts.org]
Case presentation An 11 year old boy from a rural area in Sri Lanka presented to us with polyuria, polydipsia of one year duration and intermittent headache of one month duration. [ijpeonline.biomedcentral.com]
A 13-year-old girl presented with complaints of progressively increasing blackish discoloration of the folds of the body [Figure 1], polydipsia and polyuria. [e-ijd.org]
Infants with hereditary DI present with crying, polyuria, and hyperthermia due to dehydration. At later stages, these infants show growth retardation and weight loss. [lecturio.com]
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Nephrolithiasis
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 nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. [springermedizin.de]
Multiple pterygium syndrome, lethal type 253290 Myasthenic syndrome, congenital, 3B, fast-channel CHRNG 2q37.1 Escobar syndrome 265000 Multiple pterygium syndrome, lethal type 253290 CLCN5 Xp11.23-p11.22 Dent disease 300009 Hypophosphatemic rickets 300554 Nephrolithiasis [institutobernabeu.com]
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Nocturia
Clinical Presentation of Diabetes Insipidus Patients with DI present with polyuria, polydipsia, and nocturia. Nocturia, increased urination at night time, is an important manifestation of true DI, in contrast to psychogenic DI. [lecturio.com]
Workup
Diagnostic Workup of Diabetes Insipidus The first and most important step in the diagnostic workup of a patient suspected to have DI, is confirming a urinary output volume of more than 3 L per day. A 24-hour urine collection is indicated. [lecturio.com]
SK and Dr.MBKCD: Background workup, preparation and manuscript writing. Dr. NDW: Arranging the genetic study by collaborating with Fulgent Diagnostics, USA and writing the Genetic interpretation part of the manuscript. Dr. STK and Dr. [ijpeonline.biomedcentral.com]
History of biochemical abnormalities, such as dyslipidemia, detected during routine screening or workup for a cardiovascular disease. History of hypertension. Symptoms of coronary artery disease. [emedicine.medscape.com]
Other Treatment of hypothyroidism as per routine Rigorous workup and treatment of intercurrent infections Psychosocial support and guidance for the families Surveillance of DS and RMS The following are appropriate: Close supervision by a pediatrician [ncbi.nlm.nih.gov]
Serum
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Glucose Decreased
However, the slope of the regression and the predicted insulin level at zero glucose decreased with increasing age. [ncbi.nlm.nih.gov]
Treatment
Here we report the results of recombinant human GH (rhGH) and recombinant human insulin-like growth factor-I (rhIGF-I) treatment of a male patient, Atl-2, with Rabson-Mendenhall syndrome. [ncbi.nlm.nih.gov]
This is due to the lack of a long term treatment. Life expectancy is 1-2 years. [wattpad.com]
Transplantation 765 65 Treatment of Diabetes in the Hospitalized Patient 1103 66 The Diabetic Foot Strategies for Treatment 1111 BIOLOGY OF THE COMPLICATIONS OF DIABETES 793 67 Vascular Disease of the Lower Extremities 1123 Cameron M Akbari and Frank [books.google.es]
This is due to the lack of a long term treatment. Life expectancy is 1–2 years. [infogalactic.com]
Standard Therapies Treatment There is no specific treatment for individuals with Rabson-Mendenhall syndrome. [rarediseases.org]
Prognosis
Treatment and Prognosis There is no known cure for Rabson–Mendenhall syndrome. However, a series of steps can be directed towards treating the specific symptoms. For example, surgery may be performed to treat dental abnormalities. [infogalactic.com]
Also, direct actions against other symptoms may be taken (e.g. surgery for facial abnormalities) This syndrome usually affects children and has a prognosis of 1–2 years. [en.wikipedia.org]
Etiology
However, analysis revealed no mutations in the responsible genes and the etiology of the renal abnormalities therefore remains unknown. [ncbi.nlm.nih.gov]
Etiology As in leprechaunism (of which Rabson-Mendenhall syndrome may represent a less severe form); the condition is caused by anomalies in both alleles of the insulin-receptor gene ( INSR ;19p13.3-p13.2). [orpha.net]
Central DI and nephrogenic DI have different etiologies and are discussed separately. Etiology of central diabetes insipidus An antidiuretic hormone is produced by the hypothalamus and secreted by the posterior pituitary gland (neurohypophysis). [lecturio.com]
Etiologic diagnosis and behaviour when confronted with abnormal hair growth in a child. Ann Dermatol Venereol. 2002;129:817-20. Longo N, Wang Y et al. Genotype-phenotype correlation in inherited severe insulin resistance. [malattierare.regione.veneto.it]
Epidemiology
Our understanding of the epidemiology and economic impact of these disorders has expanded, emphasizing their critical importance. These are but a few highlights of how the terrain has changed in a relatively brief period of time. [books.google.com]
Summary Epidemiology It is an extremely rare disorder of unknown prevalence. [orpha.net]
Epidemiology It has been described in four generations of one family and in two additional sporadic cases. Omenn’ s syndrome is a genetically heterogeneous condition. [ypujujype.gq]
DECODE Study Group on behalf of the European Diabetes Epidemiology Study Group. Will new diagnostic criteria for diabetes mellitus change phenotype of patients with diabetes? Reanalysis of European epidemiological data. BMJ 1998; 317 : 371-375. 11. [staff.ncl.ac.uk]
Some conditions that are categorized as receptor or postreceptor insulin-resistant states include the following: EPIDEMIOLOGY In the United States, the frequency of insulin resistance is observed to be 3% in the general population; a several-fold increase [flipper.diff.org]
Pathophysiology
[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]
M.D. [1] Overview Rabson-Mendenhall syndrome is a rare congenital condition characterized by severe insulin resistance, developmental abnormalities, and acanthosis nigricans. [1] A hypertrophic pineal gland has been reported in some cases. [2] Pathophysiology [wikidoc.org]
In addition to the widely recognized association of acanthosis nigricans with insulin resistance, acanthosis nigricans has been associated with numerous syndromes (see the Table in Pathophysiology). [emedicine.medscape.com]
AN exceedingly large number of studies have convincingly demonstrated that insulin resistance occurs in association with a variety of physiological and pathophysiological states, including obesity, noninsulin-dependent diabetes mellitus (NIDDM), polycystic [academic.oup.com]
The pathophysiology of RMS is explained by abnormality of the INSR gene at the gene map locus 19p13.2. (OMIM: 609968, 246200, 262190) resulting in severe biallelic loss-of-function of the insulin receptor and impaired insulin binding [ 3, 5 ]. [ijpeonline.biomedcentral.com]
Prevention
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Insulin resistance has also been arbitrarily defined as the requirement of 200 or more units of insulin per day to attain glycemic control and to prevent ketosis. [flipper.diff.org]
On the other hand, the introduction of these drugs (especially in the early phases of the disease) might improve glycaemic control, preserve beta cell function, prevent the decline in insulin levels [ 3 ], allow the use of lower doses of insulin and delay [link.springer.com]
This is due to progressive decline of insulin levels, which is inadequate to prevent glucose synthesis in the liver and prevent release of fatty acid by adipocytes (7). [ijpeonline.biomedcentral.com]