We present a case of ds owing to the rarity of this syndrome 1. You may copy the ebook to multiple devices, or print copies, for personal use. Ds individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. Be cause of the characteristic physical features and marked wasting, the term leprechaunism was applied to this disorder. Donohue disease definition of donohue disease by medical. Leprechaunism nord national organization for rare disorders. Descriptiondonohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in infants. Leprechaunism genetic and rare diseases information center. 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. Donohue syndrome definition of donohue syndrome by medical.
Treatment will often address specific dysfunctions in the patient, such as skin defects, hormonal imbalances, and normal progression of child growth. Donohue syndrome ds is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor insr. Drug reaction with eosinophilia and systemic symptoms. The treatment of leprechaunism is directed toward the specific symptoms that. Insights into brain development, cilium biology, and complex disease dan doherty, md, phd joubert syndrome js is a primarily autosomal recessive condition characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive midhindbrain malformation the molar tooth sign. 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. Donohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene. 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. Donohue syndrome donohues syndrom engelsk definition. This infant with leprechaunism donohues syndrome demonstrates the very severe intrauterine growth retardation. There is a paucity of evidence for any effective treatment for donohue syndrome. 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 a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies. Although the patients showed features specific to leprechaunism, such as fasting hypoglycemia and multiple abnormal features. Treatment with recombinant insulinlike growth factor 1 igf1 may be. World down syndrome day random acts of kindness 2017 freebie. People with down syndrome often learn in different ways. Ds is associated with number of phenotypes including congenital heart defects, leukemia, alzeihmers disease, hirschsprung disease etc. Leprechaunism donohue syndrome jama pediatrics jama. Donohue first described this rare syndrome in 1948. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes.
Donohue syndrome definition of donohue syndrome by the free. The net deletion of 8 bp shifted the reading frame and introduced a premature chain termination downstream. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic. The diagnosis is made on clinical, biochemical and genetic grounds. Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of insulin receptor. Clinical features include severe intrauterine and postnatal growth restriction. Down syndrome ds is one of the commonest disorders with huge medical and social cost. You may learn a little slower, or you may find it hard to learn. The clinical assessment and management of children, young.
The patients reported here are from a yemeni family with a syndrome of insulin resistance similar to leprechaunism in which the parents are second cousins and five of their eight children are affected. Alternatively, please print the pdf file, mark any amendments on the. Pdf hypertrophic cardiomyopathy in donohue syndrome. 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. This infant with leprechaunism donohue s syndrome demonstrates the very severe intrauterine growth retardation. Primary hyperaldosteronism conns syndrome columbia. Preimplantation genetic diagnosis for donohue syndrome. Donohue syndrome definition of donohue syndrome by.
Donohue disease definition of donohue disease by the free. It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Donohue syndrome 1 is a rare 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 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. Treatment of ds is supportive and requires the combined efforts of a. An infant had the classical features of leprechaunism.
Sep 15, 2014 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. These are important to recognize because of the possibility of treatment with thiazoladinediones 4346. We present a case of ds owing to the rarity of this syndrome 1 case in every million births. A syndrome of insulin resistance resembling leprechaunism in. A takehome handout in honor of world down syndrome day. Donohue syndrome also known as leprechaunism is an extremely rare medical condition. A general overview of down syndrome 1 overview of major clinical features neonatal features the diagnosis of down syndrome is generally made at birth on the basis of the physical examination. Donohue syndrome the journal of clinical endocrinology. Familial type 2 diabetes of early onset with insulin. The disease is caused by a mutation in the insr gene, which contains the genetic information for the formation of insulin receptors.
It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. Treatment of ds is supportive and requires the combined efforts of a multidisciplinary team, which include pediatricians, endocrinologists, dermatologists, and. Leprechaunism genetic and rare diseases information. Pdf donohue syndrome or leprechaunism is an extremely rare lethal familial condition. It may also be read on many tablet and smartphone devices that support pdf files. Leprechaunism is characterized by growth delays, as well as abnormalities of. Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance. Subsequently 12 addi tional cases312 have been reported withsimilarstigmata,includingsuch additional features as large, low. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. One end of five reads from na01712 showing ercc6 exon 17, c. A syndrome of insulin resistance resembling leprechaunism. Donohue syndrome ds, also known as leprechaunism, describes a rare form of congenital insulin resistance associated with refractory hyperglycemia, hyperinsulinism and severe, characteristic musculoskeletal deformities and facial dysmorphia.
Treatment with subcutaneous insulin was subsequently maintained at a dose of 7 iukgday until two and a half months of age, when it was discontinued due to. Donohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in. Read preimplantation genetic diagnosis for donohue syndrome leprechaunism, fertility and sterility on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. This day is celebrated on the 21st of march every year. Donohue syndrome uncountable medical genetics a rare, severe genetic disorder resulting in elfin facial features and an impaired insulin receptor. The condition is caused by mutations in the insulin receptor gene gene. Leprechaunism derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual.
One end of five reads from na01712 showing ercc6 exon 17. Donohue syndrome is the most severe type of insr disorder and its. Leprechaunism is a congenital form of extreme insulin resistance a group of syndromes. Donohue syndrome is associated with a fatal congenital form of. Donohue syndrome synonyms, donohue syndrome pronunciation, donohue syndrome translation, english dictionary definition of donohue syndrome. Donohue disease definition of donohue disease by the. They can be worn with a safety pin, mounted on construction paper, or even made into a magnet. Other syndromic forms of insulin resistance include rabsonmendenhall syndrome, type a and b insulin resistance, lipodystrophies, and hairan syndrome.
Picture of the month congenital defects jama pediatrics jama. Donohue disease synonyms, donohue disease pronunciation, donohue disease translation, english dictionary definition of donohue disease. This report describes an infant with the syndrome of multiple congenital malformations and malnutrition leading to death in early infancy, which was o. Classic case report of donohue syndrome leprechaunism.
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. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. 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. Genetic disorders the following 15 pages are in this category, out of 15 total. The clinical assessment and management of children, 3 young people and adults with down syndrome part i. In leprechaunism, polymerase chain reaction is used to identify mutations to the insulin receptor gene. Primary hyperaldosteronism conn s syndrome the increased salt increases the blood pressure. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic disorder.
Donohue syndrome definition of donohue syndrome by the. Management is not standardized but aims to normalize blood. 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. Included is a short description on one side of the page and 21 suggested acts of kindness on the other. Facial features indicative of donohue syndrome include protuberant and. Donohue and donohue and uchida were the first to describe this rare syndrome featuring dysmorphic facies, failure to thrive, hirsutism, and multiple endocrine abnormalities. Treatment with subcutaneous insulin was subsequently maintained at a dose of 7iukgday until two and a half months of age, when it was discontinued due to. These disorders, which also include rabsonmendenhall syndrome and type a insulin resistance syndrome, are considered part of a spectrum. 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. Most people with down syndrome learn things more slowly. Hyperaldosteronism is a disease in which the adrenal glands make too much aldosterone which leads to hypertension high blood pressure and low blood potassium levels.
Pdf ebook edition this ebook is a readonly adobe acrobat pdf file that can be viewed and printed using the freely downloadable adobe acrobat reader version 7 or higher. Leprechaunism derives its name from the hallmark elvish features small stature, bulging eyes, thick lips, and upturned nostrils exhibited by the affected individuals. The mutation involved replacement of a bp sequence in exon by an unrelated 5bp sequence. Sep 01, 2008 read preimplantation genetic diagnosis for donohue syndrome leprechaunism, fertility and sterility on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Donohue syndromedefinitiondonohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene. Diagnosis is made on clinical, biochemical fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia, and. Leprechaunism was the euphemistic name used to describe the elfinlike facies and poor growth characteristic of the syndrome. One end of five reads from na20383 showing cln3 exon 11. World down syndrome day ribbons freebie by melissa donohue. Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypoglycaemia. The infant had a birth weight of 750 g at a gestational age of 37 weeks. Maybe you have a great memory and do not need to write things down to remember them. 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. Leprechaunism donohue syndrome jama pediatrics jama network.
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