leprechaunism

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Translations

lep·re·chaun·ism

[MIM*246200]

n. leprecaunismo, condición hereditaria con características de enanismo acompañadas por retardo físico y mental, trastornos endocrinos y susceptibilidad a infecciones.

English-Spanish Medical Dictionary © Farlex 2012

References in periodicals archive ?

Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.

Two novel mutations identified in familial cases with Donohue syndrome. Mol Genet Genomic Med 2014;2:64-72.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

Donohue syndrome is a condition in which binding of insulin to insulin receptors (INSR) and signalization of insulin is disrupted.

In this article, a patient with Donohue syndrome who was followed up from the neonatal period because of problems caused by severe insulin resistance and compensatory hyperinsulinism and was found to have compound heterozygous mutation in the INSR gene is presented.

A diagnosis of Donohue syndrome was made with these clinical and laboratory findings.

A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene

Dentre as publicacoes, destacam-se os artigos Leprechaunism: a euphuism for a rare familial disorder (3), sendo o primeiro a descrever a doenca; e A syndrome of insulin resistance resembling Donohue Syndrome with patent ductus arteriosus (4), que aborda a alteracao cromossomica dos portadores e dos pacientes que expressam a sindrome.

Donohue Syndrome: a new case with a new complication.

Nursing diagnoses and interventions for a neonate with Donohue Syndrome (Leprechaunism): a case study/Diagnosticos e intervencoes de enfermagem ao neonato com Sindrome de Donohue (Leprechaunismo): estudo de caso/Diagnostico e intervencion de enfermeria al neonato con Sindrome de Donohue (Leprechaunismo): estudio de caso

The 31-year-old was devastated when she lost her first child, Jordan, to Donohue Syndrome and, despite second child Logan being healthy, she cruelly lost their third baby, Jennaleigh, to the same disease.

The couple were told that Jordan had Donohue Syndrome, a very rare illness which stops growth and causes muscles to waste away.

I cherish each moment with my 2 healthy children; Mum Lucilla finally has happy family she longed for after heartache of losing two babies to rare genetic disorder

Mutations of INSR lead to a wide spectrum of inherited insulin resistance syndromes ranging from leprechaunism (Donohue syndrome, autosomal recessive), which occurs in infancy and results in death, to type A insulin resistance (autosomal dominant), which leads to mild clinical symptoms after puberty.

Our literature search yielded a heterozygote variant in a case with Donohue syndrome with compound heterozygote genotype (p.Arg1027* in exon 17 and c.3529 + 5G>A) that was recently reported in a congress session (5).