Donohue syndrome is an autosomal recessive genetic disorder. The disease is caused by a mutation in the insr gene, which contains the genetic information for the. Straight talk about mental retardation, down syndrome, and life down syndrome. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic facies. Donohue syndrome or leprechaunism is an extremely rare lethal familial condition causing complete resistance to. Leprechaunism is an extremely rare disorder characterized by abnormal. The first insulin receptor gene mutation found in human disease was detected in an infant with leprechaunism. Donohue syndrome also known as leprechaunism is an extremely rare medical condition. Two novel mutations identified in familial cases with. Pmc free article ellis en, kemp sf, frindik jp, elders mj.
Descriptiondonohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in infants. Donohue syndrome the journal of clinical endocrinology. World down syndrome day is celebrated every march 21st. Donohuesyndrome ds, first described by the canadian pathologist william l. Leprechaunism genetic and rare diseases information. Donohue syndrome leprechaunism is a more severe form of insrrelated syndromic insulin resistance. The diagnosis is established based on clinical characteristics, and determination of the insr mutation. It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Treatment is challenging and often unsuccessful, and relies on. Equation used to determine the heattransfer film coefficient for a fluid on the outside of a baffled shellandtube heat exchanger explanation of donohue equation. To our knowledge, this is the first patient with leprechaunism in israel. Although the patients showed features specific to leprechaunism, such as fasting hypoglycemia and multiple abnormal features. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic. The dysmorphic facial features include large, lowset ears, depressed nasal bridge with a broad nasal tip and flared nares, thick lips, and hirsutism.
Donohue syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Leprechaunism was the euphemistic name used to describe the elfinlike facies and poor growth characteristic of the syndrome. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. The mutation involved replacement of a bp sequence in exon by an unrelated 5bp sequence. A takehome handout in honor of world down syndrome day. It is thought to be caused by deposition of embolic fat within the pulmonary capillaries, resulting in a capillary leak within the lung. Type a insulin resistance syndrome type a is a milder form of insrrelated syndromic insulin resistance. Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of insulin receptor. The first 18 months dvd or video early communication skills in children with down syndrome.
Donohue equation article about donohue equation by the. Ds is characterized by pre and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis. There is a paucity of evidence for any effective treatment for donohue syndrome. Donohue syndrome is a rare autosomal recessive condition caused by severe lossoffunction mutations in the insulin receptor insr gene. Donohues syndrome leprechaunism, where there are homozygous or. In 1948, donohue 5 first identified the physical and clinical findings of unusual. 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. Diabetic foot syndrome and anaplerotic therapy in a long. Leprechaunism donohue syndrome is the most severe type of insulin receptor insr gene anomaly with the majority of patients surviving for only 2 years.
Donohue syndrome ds is a very rare autosomal recessive disease affecting less than one in a million life births. Abstract donohue syndrome ds is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor insr gene, manifesting marked insulin resistance, severe growth retarda. Included is a short description on one side of the page and 21 suggested acts of kindness on the other. Chromosomal abnormality has been reported in very few instances of donohues syndrome, and in one case the classical features of this condition were reported with chromosome mosaicism. The patterson syndrome, leprechaunism, and pseudoleprechaunism. Glomerulopathy in patient with donohue syndrome leprechaunism. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. Melissa donohue teaching resources teachers pay teachers. Rabsonmendenhall syndrome genetic and rare diseases.
These babies usually have intrauterine growth retardation, hirsutism. Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance. Donohue syndrome definition of donohue syndrome by. The fat embolism syndrome is a symptom complex of acute respiratory failure after longbone fractures. Donohue syndrome omim 246200 is a genetic autosomal recessive disorder which results from the presence of homozygous or compound heterozygous mutations in the insr 19p. Donohue in 1948 1, is the most severe form of an insulinreceptor defect with minimal or no residual function 2. Donohue syndromedefinitiondonohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene. The source of the embolic fat appears to be marrow fat. Ds is characterized by pre and postnatal growth retardation with failuretothrive, lipoatrophy, acanthosis nigricans, hypertrichosis, and. Treatment with recombinant insulinlike growth factor 1 igf1 may be. The disease is caused by a mutation in the insr gene, which contains the genetic information for the formation of insulin receptors. Donohue syndrome uncountable medical genetics a rare, severe genetic disorder resulting in elfin facial features and an impaired insulin receptor.
Donohue disease synonyms, donohue disease pronunciation, donohue disease translation, english dictionary definition of donohue disease. Picture of the month congenital defects jama pediatrics jama. The physical features most often associated with this. Genetic disorders the following 15 pages are in this category, out of 15 total. Donohue syndrome donohues syndrom engelsk definition. 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. Donohue syndrome or leprechaunism is an extremely rare lethal.
Management is not standardized but aims to normalize blood. Donohue syndrome synonyms, donohue syndrome pronunciation, donohue syndrome translation, english dictionary definition of donohue syndrome. For someone awakening to the trauma of his or her past. The patient is a japanese boy with acanthosis nigricans, lack of. This report describes an infant with the syndrome of multiple congenital malformations and malnutrition leading to death in early infancy, which was o. Donohue first described this rare syndrome in 1948. The treatment of leprechaunism is directed toward the specific symptoms that are. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. We report a surviving 2 yearold male with leprechaunism, bearing novel compound heterozygous mutations in the insr.
This infant with leprechaunism donohues syndrome demonstrates the very severe intrauterine growth retardation. The net deletion of 8 bp shifted the reading frame and introduced a premature chain termination downstream. World down syndrome day random acts of kindness 2017 freebie. Receptor defects in patients with extreme insulin resistance. Donohue syndrome and use of continuous subcutaneous. Donohue syndrome or leprechaunism is an extremely rare lethal familial condition causing complete resistance to insulin action. Donohues syndrome, also known as leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. 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. A guide for parents and professionals fine motor skills in children with down.
Insr gene mutations also cause rabsonmendenhall syndrome, a severe insulin resistance syndrome whose features are intermediate in severity between donohue syndrome described above and type a insulin resistance syndrome described below. Donohue syndrome is considered the most severe syndrome of the group, and is usually lethal within 2 years of life. Affected individuals have features similar to those of donohue syndrome, but they usually survive into their teens or. This day is celebrated on the 21st of march every year.
Currently, treatment with recombinant insulinlike growth factor 1. On one side is a short description of why we celebrate this day. Leprechaunism donohue syndrome is a recessively inherited syndrome of insulin resistance with severe prenatal and postnatal growth retardation, ovarian hyperstimulation, acanthosis nigricans and abnormal facial features, as described above. Symptoms are similar to those seen in rms, but are more serious. Leprechaunism is a congenital form of extreme insulin resistance a group of syndromes. Diagnosis is made on clinical, biochemical fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia, and. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor ir gene insr. Over 50 insulin receptor mutations have been described which result in profound insulin resistance and. Here is a send home handout for elementary students. Donohue settlers in new zealand in the 19th century martin donohue, aged 25, who arrived in lyttelton, new zealand aboard the ship accrington in 1863 mr. Other syndromic forms of insulin resistance include rabsonmendenhall syndrome, type a and b insulin resistance, lipodystrophies, and hairan syndrome. An infant had the classical features of leprechaunism.
Leprechaunism international birth defects information. Donohueuchida syndrome definition of donohueuchida. Leprechaunism is a congenital present from birth condition. On the back is 21 suggested random acts of kindness for elementary.
Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies. Esad koklu, md, division of neonatology, department of pediatrics, megapark hospital, kahramanmara, turkey, phone. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Enable javascript to view the expandcollapse boxes. Leprechaunism donohue syndrome jama pediatrics jama. This means that donohue syndrome, or a subtype of donohue syndrome, affects less than 200,000 people in the us population.
Leprechaunism nord national organization for rare disorders. The infant had a birth weight of 750 g at a gestational age of 37 weeks. Abstract donohue syndrome ds is a very rare autosomal recessive disease affecting less than one in a million live births. Initially, treatment may consist of the use of insulin. Pdf donohue syndrome or leprechaunism is an extremely rare lethal. Donohue syndrome definition of donohue syndrome by the. Igfi treatment of insulin resistance european journal bioscientifica. Treatment will often address specific dysfunctions in the patient, such as skin defects, hormonal. A syndrome of insulin resistance resembling leprechaunism. Classic case report of donohue syndrome leprechaunism.
This is the season of your awkward harvesting, when the pain takes you where you would rather not go, through the white curtain of yesterdays to a place you had forgotten you knew from the inside out. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic disorder. Leprechaunism a case report sen s, roy a, gangopadhyay a. Donohue disease definition of donohue disease by the. Leprechaunism derives its name from the hallmark elvish features small stature, bulging eyes, thick lips, and upturned nostrils exhibited by the affected individuals. First molecular diagnosis of donohue syndrome in africa. The diagnosis is made on clinical, biochemical and genetic grounds. In 1948, donohue 5 first identified the physical and clinical findings of unusual craniofacial features, hirsutism. 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.
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