Donohue syndrome also known as leprechaunism is an extremely rare medical condition. 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 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. Pdf donohue syndrome or leprechaunism is an extremely rare lethal familial condition causing complete. Leprechaunism donohue syndrome jama pediatrics jama network. 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 disease definition of donohue disease by the free.
It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. A guide to diagnosis and treatment of leigh syndrome. This day is celebrated on the 21st of march every year. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. These disorders, which also include rabsonmendenhall syndrome and type a insulin resistance syndrome, are considered part of a spectrum. Preimplantation genetic diagnosis for donohue syndrome leprechaunism article pdf available in fertility and sterility 90 september 2008 with 6 reads how we measure reads. Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance. Two novel mutations identified in familial cases with donohue.
Donohue syndrome the journal of clinical endocrinology. The patient is marked with a solid box and a black arrow. A takehome handout in honor of world down syndrome day. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic. We report the clinical, molecular, and biochemical characterization of three new patients with ds, and address genotypephenotype issues. Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies.
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. Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of insulin receptor. Classic case report of donohue syndrome leprechaunism. There is a paucity of evidence for any effective treatment for donohue syndrome. Kosztolanyi 1 european journal of pediatrics volume 156, pages 253 255 1997 cite this article. Leprechaunism derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Clinical features of 15 reported cases and one in the present study are critically analysed for evolving diagnostic criteria for 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. A tetrad of features is suggested for diagnosing this syndrome. This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass.
Diagnosis is made on clinical, biochemical fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia, and. Donohue syndrome uncountable medical genetics a rare, severe genetic disorder resulting in elfin facial features and an impaired insulin receptor. The first insulin receptor gene mutation found in human disease was detected in an infant with leprechaunism. Diabetic foot syndrome and anaplerotic therapy in a long. Leprechaunism donohue syndrome insulin receptor gene. Leprechaunism genetic and rare diseases information. Donohue syndrome synonyms, donohue syndrome pronunciation, donohue syndrome translation, english dictionary definition of donohue syndrome.
Picture of the month congenital defects jama pediatrics jama. Examination revealed the typical features of donohues syndrome. Donohue syndrome donohues syndrom engelsk definition. For language access assistance, contact the ncats public information officer. These are important to recognize because of the possibility of treatment with thiazoladinediones 4346. 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. 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. We present a case of ds owing to the rarity of this syndrome 1. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. An infant had the classical features of leprechaunism.
Pedigree of the family and clinical features of the patient with donohue syndrome. If you have problems viewing pdf files, download the latest version of adobe reader. Donohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene. Leprechaunism genetic and rare diseases information center. Donohue syndrome also known as leprechaunism is an extremely rare and severe genetic disorder.
The treatment of leprechaunism is directed toward the specific symptoms that are. 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. This is a useful resource for teaching elementary students grades 35 about down syndrome, friendship, and acceptance. Enable javascript to view the expandcollapse boxes. Donohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in. Intermittent hypoglycemia and severe hyperinsulinemia were documented. A case of leprechaunism with severe hyperinsulinemia jama. Leprechaunism is an extremely rare disorder characterized by abnormal.
Although the patients showed features specific to leprechaunism, such as fasting hypoglycemia and multiple abnormal features. Type a insulin resistance syndrome type a is a milder form of insrrelated syndromic insulin resistance. The syndrome is associated with a unique elfin phenotype. Donohue syndrome symptoms, causes, diagnosis, and treatment information for donohue syndrome leprechaunism with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. This infant with leprechaunism donohues 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.
To our knowledge, this is the first patient with leprechaunism in israel. Preimplantation genetic diagnosis for donohue syndrome. It is a recessive autosomal disease caused by mutations in the gene that encodes the insulin receptor, located in chromosome 19 19p. 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. Treatment is challenging and often unsuccessful, and relies on maintaining normoglycaemia and. We present a case of ds owing to the rarity of this syndrome 1 case in every million births. Leprechaunism is a syndrome characterized by intrauterine growth retardation, fasting. Treatment is challenging and often unsuccessful, and relies on maintaining normoglycaemia and avoiding. 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. Donohue syndrome is a rare autosomal recessive condition caused by severe lossoffunction mutations in the insulin receptor insr gene. Donohue syndrome definition of donohue syndrome by the free. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Leprechaunism donohue syndrome insulin receptor gene mutations. Rabsonmendenhall syndrome genetic and rare diseases. This can be applied in october down syndrome awareness month or on march 21st for world down syndrome day 321 which represents three copies of the 21st chromosome. Donohue disease synonyms, donohue disease pronunciation, donohue disease translation, english dictionary definition of donohue disease. There are several mutations that can be responsible for the disease, as. He was delivered prematurely at 34 wk gestation because of intrauterine growth retardation and had a birth weight of 1. The mutations responsible for the disorder are found on the short arm chromosome 19 19p. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. Leprechaunism nord national organization for rare disorders. Donohue in 1948 1, is the most severe form of an insulinreceptor defect with minimal or no residual function 2. 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. Deletion of v335 from the l2 domain of the insulin receptor.
Other syndromic forms of insulin resistance include rabsonmendenhall syndrome, type a and b insulin resistance, lipodystrophies, and hairan syndrome. Genetic disorders the following 15 pages are in this category, out of 15 total. Donohue disease definition of donohue disease by medical. The infant had a birth weight of 750 g at a gestational age of 37 weeks. Donohuesyndrome ds, first described by the canadian pathologist william l. Diagnostic criteria in leprechaunism donohue syndrome.
It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Since its first description by denis archibald leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. Donohue first described this rare syndrome in 1948. We report the clinical, molecular, and biochemical characterization of three new patients with ds, and address genotypephenotype issues playing. Included is a short description on one side of the page and 21 suggested acts of kindness on the other. Novel heterozygous mutations of the insr gene in a familial. Drug reaction with eosinophilia and systemic symptoms. Donohue syndrome is an autosomal recessive genetic disorder.
Sep 15, 2014 if you have problems viewing pdf files, download the latest version of adobe reader. Symptoms are similar to those seen in rms, but are more serious. Donohue syndrome and use of continuous subcutaneous insulin. Treatment will often address specific dysfunctions in the patient, such as skin defects. 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 retardation, hypertrichosis, and characteristic dysmorphic features. Nov 14, 20 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 retardation, hypertrichosis, and characteristic dysmorphic features. Pdf donohue syndrome or leprechaunism is an extremely rare lethal familial condition causing complete resistance to insulin action. The diagnosis is made on clinical, biochemical and genetic grounds. Leprechaunism derives its name from the hallmark elvish features small stature, bulging eyes, thick lips, and upturned nostrils exhibited by the affected individuals. Leprechaunism donohue syndrome jama pediatrics jama. Donohues syndrome or leprechaunism is characterized by prenatal onset growth retardation, lacking subcutaneous fat and decreased muscle mass, insulin resistance and other phenotypic and hormonal changes. Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Currently, treatment with recombinant insulinlike growth factor 1.
Donohue syndrome leprechaunism is a more severe form of insrrelated syndromic insulin resistance. If you have problems viewing pdf files, download the latest version of adobe. Donohue syndrome definition of donohue syndrome by medical. Features include severe hyperinsulinism and fasting hypoglycemia, along.
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