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]
The various blood investigations and imaging studies are presented in Table 1. [cureus.com]
2 Pathophysiology 3 Treatment 4 References Clinical presentation Rabson and Mendenhall described 3 siblings (2 girls, 1 boy) who initially presented with dental and skin abnormalities, abdominal distention, and phallic enlargement.[3] The children demonstrated [bionity.com]
The present clinical case might be interesting in terms of combination of duodenum ulcer and labile diabetes mellitus, which manifested by frequent episodes of ketoacidosis, and features of INSR mutations. [childshealth.zaslavsky.com.ua]
Entire Body System
- 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]
[…] progression to diabetes over several years Werner syndrome - Features of premature aging Rabson-Mendenhall syndrome - Dental and nail abnormalities, skin lesions Pineal hypertrophic syndrome - Dental and nail abnormalities, sexual precocity Alstrom syndrome [emedicine.medscape.com]
Respiratoric
- 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
- Left Flank Pain
flank pain, associated microscopic haematuria, and albuminuria on dipstick examination. [jdmdonline.biomedcentral.com]
Jaw & Teeth
- Poor Oral Hygiene
Intra-oral examination revealed poor oral hygiene with chronic marginal gingivitis. Narrow maxillary arch with palatally positioned right lateral incisor [Figure 6] and crowded teeth were noted. [jisppd.com]
- Macroglossia
Macroglossia with enlarged filliform papilla and vertical furrows were present on lateral surface of tongue. On the basis of clinical features a provisional diagnosis of Rabson-Mendenhall syndrome was given. [jisppd.com]
Eyes
- Photophobia
There was no photophobia, lachrymation, or trauma history. He was diagnosed with diabetes mellitus six years earlier and has been managed with insulin, metformin, and pioglitazone. [cureus.com]
Skin
- No Pubic Hair
The girl had a normal physical and mental development with Tanner's stage 2 breast axillary and pubic hair development. Examination of the genitals revealed phallic enlargement and clitoromegaly [Figure 4]. Examination of the nails was unremarkable. [e-ijd.org]
Those that are caused by increased prolactin 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 [ijem.in]
Face, Head & Neck
- Depressed Nasal Bridge
She had generalized hirsutism with thick eyebrows, dense hair on the scalp, low hair line, short forehead, flattened cheek, and depressed nasal bridge [Figure 3]. Maxillary hypoplasia with anterior open bite was present. [jisppd.com]
Urogenital
- 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]
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]
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]
- 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
- Erythrocytes Decreased
After birth, IR expression in monocytes and erythrocytes decreases, remains unchanged until puberty, and then increases in adult life. [flipper.diff.org]
Treatment
This is due to the lack of a long term treatment. Life expectancy is 1-2 years. [wattpad.com]
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]
Frequent feeding is the most effective treatment to control blood glucose levels. [en.wikipedia.org]
Treatment Cochran et al. reported that treatment of 2 sibs with Rabson-Mendenhall syndrome with pharmacologic doses of human leptin resulted in improvement of fasting hyperglycemia, hyperinsulinemia, basal glucose, and glucose and insulin tolerance.[4 [bionity.com]
Prognosis
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]
Endophthalmitis occurring after cataract surgery: outcomes of more than 480 000 cataract surgeries, epidemiologic features, and risk factors. Ophthalmology. 2016;123:295–301. [link.springer.com]
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]
Pathophysiology
The condition is transmitted as an autosomal recessive trait and mainly affects children of consanguineous parents.[2] Pathophysiology As in leprechaunism, of which Rabson-Mendenhall syndrome may represent a less severe form, the condition is caused by [bionity.com]
[…] 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.S., 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]
Pathophysiology The causative mutation(s) reside in the insulin receptor gene INSR, gene locus 19p13.2 with the defect between synthesis of the receptor precursor and insertion of it into the membrane. [accessanesthesiology.mhmedical.com]
[…] hyperplasia, pineal hyperplasia) Survival ranges from early childhood to adolescence Hirsutism Reduced subcutaneous fat Diabetes mellitus Acanthosis nigricans Hyperinsulinemia Amenorrhea and polycystic ovaries in females Survival often beyond middle age Pathophysiology [arupconsult.com]
Prevention
Mohan's Diabetes Specialities Centre and Madras Diabetes Research Foundation, WHO Collaborating Centre for Non-communicable Diseases Prevention and Control, IDF Centre for Education, Chennai - India Source of Support: None, Conflict of Interest: None [journalofdiabetology.org]
Home Health Centers Wellness, Prevention & General Health Arthritis Asthma & Allergies Child & Adolescent Health Diabetes Digestive Disorders / GERD Emotional Well-Being Heart Disease High Cholesterol Hypertension Pain Disorders Men's Health Senior Health [drdoleary.com]
Treat your inpatient and ambulatory patients more effectively with the absolute latest on new topics such as quality improvement and patient care safety *school violence and bullying * preventive measures * vitamin deficiencies * adolescent rape * effect [books.google.es]
Acarbose for the prevention of diabetes, hypertension, and cardiovascular disease in subjects with impaired glucose tolerance: the Study to Prevent Non-Insulin-Dependent Diabetes Mellitus (STOP-NIDDM) Trial. [emedicine.medscape.com]
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]