At 8 months of age, he was admitted for traction of a congenitally dislocated left hip. Identification of an asperger syndrome personality profile. Other syndromic forms of insulin resistance include rabsonmendenhall syndrome, type a and b insulin resistance, lipodystrophies, and hairan syndrome. Leprechaunism is a congenital form of extreme insulin resistance a group of syndromes. This means that donohue syndrome, or a subtype of donohue syndrome, affects less than 200,000 people in the us population. Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria. Soonerstart automatic qualifying syndromes and conditions. The condition presents with elfin or gnomelike features, small body with protuberant low set ears, flaring nostrils, thick lips and stunted growth. The synonym for this syndrome, leprechaunism, is derived from leprechaun, the name of a mythical little hairy elf originating from the irish folklore.
Donohue syndrome or leprachaunism is a rare genetic disorder due to an impaired insulin receptor donohue, 1948. Endocrine disorder characterized by resistance to insulin caused by abnormal insulin receptors. Insrrelated severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype donohue syndrome ds also known as leprechaunism to the milder phenotype rabsonmendenhall syndrome rms. Specifically, this syndrome affects the first branchial or pharyngeal arch, which is the precursor of the maxilla and mandible. A, abdominal distension, inguinal hernia, large hands and feet, clitoromegaly, and lipohypotrophy. Some insr mutations impair receptor processing and cell surface expression. One end of five reads from na20383 showing cln3 exon 11.
For example, type ii was identified in 1971, to describe cases where dystopia canthorum was not present. Donohue syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Insulin normally helps regulate blood sugar levels by controlling how much sugar in the form of glucose is passed from the bloodstream into cells to be used as energy. The syndrome is caused by severe lossoffunction mutations in the insulin receptor insr gene and was first described by donohue in 1948 2, and termed leprechaunism in 1954 3. Reading the monograph and completing the posttest will require an additional 60 minutes. Odonohue, grace, identification of an asperger syndrome personality profile for postsecondary transition planning 2011.
Leprechaunism is a congenital present from birth condition characterized by extreme insulin resistance, pre and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy reduced muscle mass and enlarged external genitalia in both males and females. Program disclosures in accordance with ancc, mw msd, accme, and other accrediting body regulations, the following program disclosures are made. Axillary wen syndrome wendy buchholz, otr, l, cltlana. Leprechaunism nord national organization for rare disorders. Leprechaunism genetic and rare diseases information center. Treatment with recombinant insulinlike growth factor 1 igf1 may be.
Pdf donohue syndrome or leprechaunism is an extremely rare lethal familial condition causing complete resistance to insulin action. This program consists of an mp3 audio file and this pdf monograph. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic. Rabsonmendenhall syndrome rms is a mild form of insrrelated severe syndromic insulin resistance, an inherited disorder associated with the inability to regulate blood sugar. Looking for online definition of donohue uchida syndrome in the medical dictionary. What links here related changes upload file special pages permanent link page information wikidata item cite this page.
These women are on increased risk for the cardiovascular events. Donohue syndrome or leprechaunism is an extremely rare lethal familial condition causing complete resistance to insulin action. This report describes an infant with the syndrome of multiple congenital malformations and malnutrition leading to death in early infancy, which was originally reported by donohue and uchida12. The physical examination associated with a ct scan is the gold standard for the correct diagnosis and treatment of the eagles syndrome. By amanda donohue fibromyalgia is a syndrome with an unknown etiology that is characterized by widespread, bilateral pain, abnormal pain processing, sleep disturbance, fatigue and psychological distress. The clinical assessment and management of children, iii young people and adults with down syndrome preface a person with down syndrome should be able to share the same experiences in life as any typically developing individual. Classic case report of donohue syndrome leprechaunism. Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the bodys tissues and organs do not respond properly to the hormone insulin. Leprechaunism was the euphemistic name used to describe the elfinlike facies and poor growth characteristic of the syndrome. The treatment of leprechaunism is directed toward the specific symptoms that are. All coordinates are based on the human genome build hg18.
Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes. It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. Personality assessment can be used to identify and integrate students personality strengths in academic andor career transition planning. Rabsonmendenhall syndrome is intermediate in severity between donohue syndrome which is usually fatal before age 2 and type a insulin resistance syndrome which is often not diagnosed until adolescence. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. If you have problems viewing pdf files, download the latest version of adobe. The present report describes a case of sc of the breast nipple in a 51year.
No health claims of any kind have been made in this course or in any of the companys literature. Taking one before the evening meal or taking the drug twice daily may be more effective for nocturnal acid control. I am confident that it will be of great assistance to school personnel as they continue to play their role in controlling infectious diseases. Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypoglycaemia. These disorders, which also include rabsonmendenhall syndrome and type a insulin resistance syndrome, are considered part of a spectrum. Donohue syndrome definition of donohue syndrome by the free. Patients have an elfin or gnomelike face with microcephaly, protuberant and lowset ears, large, wideset eyes, high arched palate, thickened lips, and severely diminished subcutaneous fat. Donohue creates an atmosphere of dread and builds a world that becomes all too real in its unreality, and. Sebaceous carcinoma sc of the breast nipple is a rare malignant tumor, and only five cases, including the present one, have been reported in the englishlanguage literature. Zollingerellison syndrome, or for treatment of helicobacter pylori infection. Donohue and donohue and uchida were the first to describe this rare syndrome featuring dysmorphic facies, failure to thrive, hirsutism, and multiple endocrine abnormalities. For language access assistance, contact the ncats public information officer.
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Abstract schnelldorfer t, ware al, sarr mg, smyrk tc, zhang l, qin r, gullerud re, donohue jh, nagorney dm, farnell mb. Effective transition planning should address common stressors for college students with asperger syndrome as, such as social relationships and activities, academics and independence glennon 2001. Recommended treatments for parental alienation syndrome.
Sep 15, 2014 if you have problems viewing pdf files, download the latest version of adobe reader. Jan 04, 2019 donohue syndrome leprechaunism is a more severe form of insrrelated syndromic insulin resistance. Leprechaunism genetic and rare diseases information. Raw image files were processed by illumina pipeline v1. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. While others may disagree, given the state of the evidence, i would err on the side of caution in the use of such a construct and would not use the term syndrome when. The diagnosis is made on clinical, biochemical and genetic grounds.
Donohue disease definition of donohue disease by the free. Although the patients showed features specific to leprechaunism, such as fasting hypoglycemia and multiple abnormal features. The audio portion will require approximately 60 minutes to complete. Gastrointestinal dysmotility and pancreatic insufficiency. Parental alienation syndrome pas criteria are vague and subjective, nondiagnostic, and inconsistent with good childcentered evaluation. Enable javascript to view the expandcollapse boxes. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. Donohue syndrome donohues syndrom engelsk definition. The clinical assessment and management of children, young. Donohue first described this rare syndrome in 1948. Donohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene. Donohue syndrome is a rare congenital syndrome of insulinresistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor insr gene. One end of five reads from na01712 showing ercc6 exon 17, c. Print a copy of this pdf monograph file which includes the posttest and program evaluation.
Donohuesyndroe d rst described by the canadian pathologist illia donohue in is the ost severe for of an insulinreceptor defect with inial or no residual function d is very rare with less than births and due to hooygous or copound. Rabsonmendenhall syndrome genetic and rare diseases. Ppis should generally be swallowed whole and should not be crushed or. Type a insulin resistance syndrome type a is a milder form of insrrelated syndromic insulin resistance. This infant with leprechaunism donohue s syndrome demonstrates the very severe intrauterine growth retardation. Donohue syndrome general discussion leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system i. Donohue syndrome the journal of clinical endocrinology.
Compartment syndrome john park md 1 definition john park md 2 compartment syndrome is defined as the elevated interstitial tissue pressure within a confined space in the body an osseofascial compartment leading to inadequate tissue perfusion and eventually leading to tissue necrosis within the compartment true orthopaedic emergency. Maybe you have a great memory and do not need to write things down to remember them. Rabsonmendenhall syndrome genetics home reference nih. Posttraumatic stress disorder ptsd is a syndrome characterized by persistent anxietyrelated. The child, and later the adult, with down syndrome. Donohueuchida syndrome definition of donohueuchida. Donohue syndrome is an autosomal recessive genetic disorder.
Insr analysis for type a insulin resistant diabetes with. Jack peter keenan is a young boy with aspergers syndrome and who is deathly afraid of the outside world. Uncomfortable feelings in legs such as burning, itching, or crawling sensations 2. You may learn a little slower, or you may find it hard to learn. Sperling is emeritus professor and chair, university of pittsburgh, department of pediatrics, childrens hospital of pittsburgh. We are currently experiencing issues regarding the readability of pdf files in the chrome and firefox browsers, and adobe reader. Donohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in. The infant had a birth weight of 750 g at a gestational age of 37 weeks. Donohue syndrome synonyms, donohue syndrome pronunciation, donohue syndrome translation, english dictionary definition of donohue syndrome. Leprechaunism derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Our mission is to educate, empower and inspire our community. Forman drexel university chapter to appear in fisher, j.
It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life. No events were reported for any treatment in the special interest groups relating to tremor, urinary retention, or intestinal obstruction. Most people with down syndrome learn things more slowly. Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities. Waking with a headache in situations when a patient demonstrates a sleep problem beyond the scope of care in the. There are several mutations that can be responsible for the disease, as. Ocular effects and anticholinergic syndrome were reported in files examined by the times contained shocking examples of abuse of residents with conditions like down syndrome, autism and cerebral palsy. Milder insulin signalling disorders may present later in childhood or. Donohue disease synonyms, donohue disease pronunciation, donohue disease translation, english dictionary definition of donohue disease. Picture of the month congenital defects jama pediatrics jama. Rabsonmendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the bodys tissues and organs do not respond properly to the hormone insulin.
We present a case of ds owing to the rarity of this syndrome 1 case in every million births. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic disorder. Borderline personality disorder rebekah bradley emory university carolyn zittel conklin cambridge health alliance and harvard medical school drew westen emory university 7 167 b orderline personality disorder bpd is one of the most prevalent, most widely studied, and yet most controversial of the personality disorders. Currently, treatment with recombinant insulinlike growth factor 1. Gastrointestinal dysmotility and pancreatic insufficiency in. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. Practical guidance for targeting insomnia in primary care. The first insulin receptor gene mutation found in human disease was detected in an infant with leprechaunism. Leprechaunism is an extremely rare disorder characterized by abnormal. Biotherapy medical treatments alpha interferon radioisotope treatmentsystemic and targeted to liver chemotherapy surgery longterm survival after pancreatoduodenectomy for pancreatic adenocarcinoma. A syndrome of insulin resistance resembling leprechaunism. Donohue syndrome is the most severe type of insr disorder and its. It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual.
Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance. We would like to show you a description here but the site wont allow us. People with rabsonmendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. B, gum and lip hypertrophy, triangular facies, hirsutism, prominent eyes with infraorbital creases, and nipple hypertrophy.
Beyond your wildest genes and the company, staff owners, and associates are not medical doctors and do not diagnose, prescribe for, treat, or claim to prevent any disease. Insulin is a hormone produced by the pancreas that normally regulates blood sugar levels by promoting the movement of sugar glucose into cells for energy production or into the liver and fat cells for storage. In children, donohue and rabson mendenhall syndrome present in infancy and early childhood and are associated with well described clinical phenotypes secondary to mutations in the insulin receptor. I would like to acknowledge the hard work of the public health medicine communicable disease subgroup in producing this document.
Donohue syndrome definition of donohue syndrome by medical. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies. The mutations responsible for the disorder are found on the short arm chromosome 19 19p. Treatment will often address specific dysfunctions in the patient, such as skin defects, hormonal. Pdf hypertrophic cardiomyopathy in donohue syndrome. Symptoms are similar to those seen in rms, but are more serious. People with down syndrome often learn in different ways. Physical sensations stop for a period of time when individual moves his or her legs bruxism 1. Instead of the usual 46 chromosomes present in each cell, lejeune observed 47 in the cells of individuals with down syndrome. Donohue syndrome also known as leprechaunism is an extremely rare medical condition. A diagnosis of donohue syndrome mim 246200 was suggested. These also feature impaired linear growth and soft tissue overgrowth, with demise usually in the first 3 years of life in donohue syndrome. Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of insulin receptor.
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