Wolcottrallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulindependent diabetes. Introduction wolcott rallison syndrome wrs is a rare autosomal recessive disease. Wolcottrallison syndrome wrs is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. Wolcottrallison syndrome wrs is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulindependent diabetes. Exclusion of the dymeclin and papss2 genes in a novel form. No other alterations were observed in the exons or immediately adjacent intronic regions in the affected individual or in either parent. Wolcottrallison syndrome orphanet journal of rare diseases. Patients are now referred for genetic testing closer to their presentation with neonatal diabetes. In this study, for the first time, a large cohort of iranian patients with neonatal diabetes were genetically screened. We have observed a brother and sister with the same disorder. A novel splice site indel alteration in the eif2ak3 gene is. Wolcottrallison syndrome wrs is an autosomal recessive disorder characterized by earlyonset diabetes, skeletal dysplasia, and growth retardation1. Besides pndm, it also includes skeletal abnormalities, liver and renal dysfunction, and other inconsistently present features. Kapoor2 abstract wolcottrallison syndrome is the commonest cause of neonatal diabetes in consanguineous families.
Wolcott rallison syndrome wrs is an extremely rare autosomal recessive condition, and it is the most common cause of neonatal diabetes in consanguine families. Wolcott cd, rallison ml 1972 infancyonset diabetes mellitus and multiple epiphyseal dysplasia. Wolcottrallison syndrome with 3hydroxydicarboxylic aciduria. Here we describe a girl who came to our attention at 2. Epiphyseal dysplasia multiple with earlyonset diabetes. A genotypefirst approach for clinical and genetic evaluation. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2a kinase 3. Introduction wolcottrallison syndrome wrs is a rare autosomal recessive disease. Some patients of wrs may develop central hypothyroidism, hepatic dysfunction, renal insufficiency or central nervous system abnormalities2,3. Feb 01, 2011 wolcott rallison syndrome wrs is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus pndm with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Abstract wolcottrallison syndrome wrs is a rare autosomal recessive disorder. Organisation of the human pax4 gene and its exclusion as a. A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulindependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as. Wolcottrallison syndrome is a rare disease, first reported in 1972 by wolcott and rallison, who described three siblings with infancyonset diabetes mellitus and multiple epiphyseal dysplasia.
Rallison syndrome in two siblings with isolated central hypothyroidism. Wolcottrallison syndrome wrs is a rare condition that was initially described in 1972 in siblings with earlyonset diabetes mellitus and skeletal dysplasia sd. Wolcott rallison syndrome wolcott rallison syndrome wrs is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus pndm with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. A case report of eif2ak3related wolcottrallison syndrome. Fewer than 60 cases have been described in the literature, although wrs is now recognised as the most frequent cause of neonatalearlyonset. Wolcott rallison syndrome caused by a novel mutation in. Fewer than 60 cases have been described in the literature, although wrs is now recognised as the most frequent cause of neonatalearlyonset diabetes in patients with consanguineous. A case report of a child with wolcottrallison syndrome. Rallison syndrome in a consanguineous family from saudi arabia jumana yousuf al. Online mendelian inheritance in man 226980 is an autosomal recessively inherited disorder characterized by neonatal insulindependent diabetes mellitus, skeletal dysplasia epiphyseal dysplasia, acute hepatic andor renal dysfunction, exocrine pancreatic insufficiency, neutropenia, developmental delay, and growth retardation 1,2.
Patients with wrs have mutations in the eif2ak3 gene, which encodes the eukaryotic translation initiation factor 2alpha kinase 3. Novel mutation in wolcottrallison syndrome with variable. A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulindependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mental retardation and cardiovascular abnormalities. Wolcottrallison syndrome wrs is a rare autosomalrecessive disorder characterized by the association of. We report 4 children with wrs and os odontoideum resulting in significant. Wolcott rallison syndrome, wrs, is a rare, autosomal recessive disorder with infancyonset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Wolcottrallison syndrome is the commonest cause of neonatal diabetes in consanguineous families. Further reports extended the phenotype to recurrent hepatitis, renal dysfunction, failure to thrive, developmental delay, neutropenia and hypothyroidism 2,3,4,5,6,7. Neonatal diabetes mellitus is a rare condition, the causes of which are mostly unknown. Wolcott rallison syndrome wrs is a rare condition that was initially described in 1972 in siblings with earlyonset diabetes mellitus and skeletal dysplasia sd. Wolcottrallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia.
Wolcottrallison syndrome is a rare autosomal recessive disease, characterized by neonatal diabetes associated with skeletal dysplasia and growth retardation. This transmembrane enzyme, also known as pkrlike endoplasmic reticulum kinase or pancreatic eif2alpha kinase localizes. Wolcottrallison syndrome with 3hydroxydicarboxylic. Wolcottrallison syndrome is the most common genetic cause of. This model represents a new framework for clinical care with genetic diagnosis. One well defined though very rare entity is the autosomal recessive wolcottrallison syndrome, in which permanent neonatal diabetes, osteopenia, and epiphyseal dysplasia occur. The genetic result predicts the best diabetes treatment and development of related features. Here are links to possibly useful sources of information about wolcottrallison syndrome. Wolcottrallison syndrome wrs is a rare autosomal recessive disease, characterized by neonatalearlyonset nonautoimmune insulinrequiring diabetes associated with skeletal dysplasia and growth. Wolcott rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. Wolcottrallison syndrome wrs is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus pndm assoc.
I read with interest the report of a new case of wolcottrallison syndrome by marafie et al 1 and would like to further highlight the molecular basis of this syndrome. At 3 mo of age, he had presented with diabetic ketoacidosis and was on insulin regimen. Homozygosity mapping has proved effective to identify candidates for genetic testing before the full clinical diagnosis is evident. Eif2ak3 mutations in patients with wolcottrallison. Wolcottrallison syndrome wrs is a rare autosomal recessive disorder characterized by earlyonset permanent diabetes mellitus, multiple epiphyseal dysplasia, growth retardation. Wolcott rallison syndrome wrs is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulindependent diabetes. Wrs is caused by various genetic alterations of the eukaryotic translation initiation factor 2alpha kinase 3 eif2ak3 gene. Primary hypothyroidism and nipple hypoplasia in a girl. A novel splice site indel alteration in the eif2ak3 gene. Genetic analysis of a consanguineous family where two children were diagnosed with wrs. To date, nine cases have been described in the world literature. We report 4 children with wrs and os odontoideum resulting in significant neurological compromise. Wolcott rallison syndrome omim 226980 is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. Pdf wolcottrallison syndrome clinical, genetic, and functional.
Wolcottrallison syndrome with novel eif2ak3 gene mutation jcrpe. Wolcottrallison syndrome, wrs, is a rare, autosomal recessive disorder with infancyonset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Kapoor2 abstract wolcott rallison syndrome is the commonest cause of neonatal diabetes in consanguineous families. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities summary. Fewer than 60 cases have been described in the literature, although wrs is now recognised as the most frequent cause of neonatalearlyonset diabetes in patients with consanguineous parents. Wolcottrallison syndrome wrs is a rare autosomalrecessive disorder characterized by the association of permanent neonatal or earlyinfancy insulindependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystemic clinical manifestations.
A 9yold boy was referred to authors institute for the management of insulin dependent diabetes mellitus. Wolcottrallison syndrome wrs is a rare autosomal recessive disease, characterized by neonatalearlyonset nonautoimmune insulinrequiring diabetes associated with skeletal dysplasia and growth retardation. Wolcottrallison syndrome wrs, caused by mutation in the eif2ak3 gene encoding the perk enzyme, is the most common cause of permanent neonatal diabetes mellitus pndm in consanguineous families and isolated populations. Wolcottrallison syndrome abbreviated as wrs is a rare, autosomal recessive disorder with infancyonset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Loss of kinase activity in a patient with wolcottrallison. Genetic analysis of a consanguineous family where two children were diagnosed with wrs was performed by sanger sequencing. Wolcottrallison syndrome wrs is a rare autosomal recessive disorder. Novel splice site mutation in eif2ak3 gene causes wolcott. A genotypefirst approach for clinical and genetic evaluation of wolcottrallison syndrome in a large cohort of iranian children with neonatal diabetes.
Patients with wrs have mutations in the eif2ak3 gene, which encodes the pancreatic. One well defined though very rare entity is the autosomal recessive wolcott rallison syndrome, in which permanent neonatal diabetes, osteopenia, and epiphyseal dysplasia occur. Wolcott rallison syndrome wrs is an autosomal recessive disorder characterized by earlyonset diabetes, skeletal dysplasia, and growth retardation1. Pdf wolcottrallison syndrome wrs is a rare autosomal recessive disease, characterized by neonatalearlyonset. Among them, several conditions also include a mental retardation mr syndrome, namely wolcottrallison syndrome, dyggvemelchiorclausen syndrome dmc and lysosomal storage disorders. Wolcott rallison syndrome wrs is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families.
It is characterized by neonatal early onset nonautoimmune insulin dependent diabetes permanent neonatal diabetes mellituspndm associated with spondyloepiphyseal dysplasia, tendency to skeletal fractures and growth retardation. Wolcott rallison syndrome wrs omim 226980 is a rare, autosomal recessive disorder with infancyonset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. He was the product of third degree consanguineous marriage and was delivered by full term vaginal delivery with a birth weight of 2. Wolcott rallison syndrome is a rare disease, first reported in 1972 by wolcott and rallison, who described three siblings with infancyonset diabetes mellitus and multiple epiphyseal dysplasia.
Based on genetic studies of two inbred families, we previously identified the gene responsible for this disorder. It is caused by mutations in eukaryotic translation initiation factor 2. Rallison syndrome in a consanguineous family from saudi arabia. Zhang huijie 2, wang shibiao 1, guo xiaofeng 1, weng bin 2, lin ling 2, hao yan 3. Liver disease and other comorbidities in wolcottrallison. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. Ideal sources for wikipedias health content are defined in the guideline wikipedia. Review open access wolcottrallison syndrome cecile julier1,2, marc nicolino3,4 abstract wolcottrallison syndrome wrs is a rare autosomal recessive disease, characterized by neonatalearlyonset nonautoimmune insulinrequiring diabetes associated with skeletal dysplasia and growth retardation. Wolcott rallison syndrome wrs is a rare autosomal recessive disease, characterized by neonatalearlyonset nonautoimmune insulinrequiring diabetes associated with skeletal dysplasia and growth. Wolcottrallison syndrome wrs omim 226980 is a rare, autosomal recessive disorder with infancyonset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Wolcott rallison syndrome is a rare autosomal recessive disease, characterized by neonatal diabetes associated with skeletal dysplasia and growth retardation. The effect of early, comprehensive genomic testing on.
Wed like to understand how you use our websites in order to improve them. Wolcott rallison syndrome wrs is a rare autosomal recessive disorder characterized by the association of permanent neonatal or earlyinfancy insulindependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Letter to the editor open access os odontoideum in wolcottrallison syndrome. Only five previous families have been reported, and here we describe the second in which parental consanguinity was present. In 1972, wolcott and rallison described three siblings with a combination of infancyonset diabetes mellitus and multiple epiphyseal dysplasia. Wolcott rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulindependent diabetes. Clinical, genetic, and functional study of eif2ak3. Wolcott rallison syndrome is the most common genetic subtype of permanent neonatal diabetes in consanguineous pedigrees. Wolcott rallison syndrome wrs is a rare autosomalrecessive disorder characterized by the association of permanent neonatal or earlyinfancy insulindependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystemic clinical manifestations. Only five previous families have been reported, and here we describe the second in which. Editor, wolcottrallison syndrome wrs is a rare autosomal recessive disease caused by endoplasmic reticulum er dysfunction. Wolcottrallison syndrome wrs is a rare autosomal recessive disease, characterized by nonautoimmune.
Rallison syndrome due to the same mutation in eif2ak3 c. Comprehensive testing of all causes identified causal mutations in more than 80% of cases. Wolcottrallison syndrome omim 226980 is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. Wolcottrallison syndrome wrs is a rare autosomal recessive disease, characterized by. Neonatalearlyonset within first 6 mo permanent non autoimmune diabetes mellitus pndm requiring insulin is the commonest feature and it is the commonest cause of neonatal dm in patients from consanguineous families. Wolcottrallison syndrome wrs is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus pndm with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Wolcottrallison syndrome is the most common genetic cause. Patients with wrs have mutations in the eif2ak3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2. Mutations in the eif2ak3 gene, encoding the eukaryotic initiation factor 2. Wolcottrallison syndrome wrs is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and growth retardation. Wolcottrallison syndrome wrs is a rare autosomal recessive disorder characterized by the association of permanent neonatal or earlyinfancy insulindependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. Nov 04, 2010 wolcott rallison syndrome wrs is a rare autosomal recessive disease, characterized by neonatalearlyonset nonautoimmune insulinrequiring diabetes associated with skeletal dysplasia and growth retardation.
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