Wolfram syndrome, a rare neurodegenerative disease. Vasopressin secretion in the didmoad wolfram syndrome qjm. Two causative genes wfs1 and wfs2 have been identified. Didmoad syndrome is defined by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy wolfram syndrome. In addition, many people with wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Seven patients with a rare syndrome of diabetes insipidus di, diabetes mellitus dm, optic atrophy oa, neurosensory deafness d, atony of the urinary tract, and other abnormalities wolfram or didmoad syndrome are reported. The initial manifestation is insulindependent diabetes mellitus around 6 years of age, followed by optic atrophy at 11 years of age. Wolfram syndrome is a rare genetic disorder characterized by juvenileonset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing. If this discovery is recent, it is understandably accompanied with a flood of fears and anxiety that can only be. The first page of the pdf of this article appears above. At the age of 6 years, the case developed osmotic symptoms and, during evaluation, diabetes insipidus, optic atrophy and deafness were reported. Wolfram syndrome, which is also known by the acronym didmoad, is an inherited condition characterized by diabetes insipidus di, childhoodonset diabetes mellitus dm, a gradual loss of vision caused by optic atrophy oa, and deafness d.
The mitochondrial genome in wolfram syndrome journal of. Wolfram syndrome, also known as didmoad, is an autosomal recessive neurodegenerative disorder accompanied by insulindependent diabetes mellitus and progressive optic atrophy with an estimated prevalence in japan of 1710,000 163. Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow. Pdf wolfram syndrome is a rare genetic disorder characterized by. The third section covers the recent investigations on neurological disorders in down syndrome, and the concluding section focuses on pre. Wolfram syndrome, which is also known by the acronym didmoad, is.
The main difference with common type 1 diabetes is the absence of specific immune and. Wolfram syndrome i s an autosomal recessive genetic dis. A cost of illness study evaluating the burden of wolfram syndrome in. Dec 19, 2009 wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as didmoad diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Wolfram syndrome, also known as didmoad, is an autosomal recessive neurodegenerative disorder accompanied by insulindependent diabetes mellitus and progressive optic atrophy. A case of successful pregnancy in a patient with the complete didmoad syndrome is described. This autosomal recessive syndrome is also referred to as didmoad syndrome which stands for diabetes insipidus, insulin dependent diabetes mellitus, optic atrophy and deafnes. The first description of wolfram syndrome mim 222300 is attributed to the physician d. Full text full text is available as a scanned copy of the original print version. We report an interesting case involving a patient with type 1 diabetes with didmoad syndromelike manifestations. Wolfram syndrome uk support group genetic and rare. Individuals who carry this recessive trait do not show the full range of symptoms of wolfram syndrome didmoad.
Attention is drawn to the need to monitor fluid balance carefully during and after pregnancy in. Although olfactory dysfunction, a classical clinical marker of neurodegenerative processes, has been reported in wolfram syndrome, its use as a clinical marker in wolfram is limited due to data scarcity. The tendency to bleed excessively combined with the ulcers typically leads to abnormal bleeding in the gastrointestinal system. Introduction we report a girl with wolfram syndrome who presented with juvenileonset diabetes mellitus when she was 4 3 j 2 years old. This book provides a concise yet comprehensive source of current information on down syndrome. An older name for the syndrome is didmoad, which refers to diabetes. Wolfram syndrome and wfs1 gene wolfram syndrome ws mim 222300 is a rare multisystem neurodegenerative disorder of autosomal recessive inheritance, also known as didmoad diabetes insipidus, insulin. Wolfram or didmoad syndrome ws is a rare autosomal recessive, progressive, neurodegenerative disorder characterized by the association of hdi with diabetes mellitus, optic atrophy, and bilateral sensorineural deafness, though other manifestations may occur, such as gonadal failure, renal outflow tract dilatation secondary to reduced nerve fibers in the bladder wall, and. Editorwolfram syndrome is the association of juvenile onset diabetes mellitus and optic atrophy,1 also known as didmoad diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Vasopressin secretion in the didmoad wolfram syndrome. Wolfram syndrome 1 ws1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. To date, the economic burden of wolfram syndrome has not been wellstudied or reported.
Maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100 42 1 in 70 45 1 in 30 47 1 in 20 48 1 in 15 49 1 in 10 5. Classical ws features are childhoodonset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, neurological signs, and other abnormalities. Wolfram syndrome mim 222300 is the association of juvenile onset diabetes mellitus and optic atrophy, also known as didmoad diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Wolfram syndrome was first described by physician d j wolfram and wagener in 1938. Wolfram syndrome type 1, which is also known by the acronym didmoad, is characterized by diabetes insipidus di, childhoodonset diabetes mellitus dm, gradual loss of vision due to optic atrophy oa, and deafness d. Wolfram syndrome mim 222300 is the association of juvenile onset diabetes. Immunohistological study of the bladder wall and ureter revealed a marked diminution in nerve fibres, which may have been primary or secondary to the muscle. Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhoodonset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. Biochemical and mri findings of kallmanns syndrome. Wolfram syndrome is a very rare autosomal recessive genetic disease comprising of diabetes insipidus, diabetes mellitus, atrophy of the optic nerve, deafness, and progressive neurological deterioration. Current landscape of treatments for wolfram syndrome. Didmoad a closer look the frequency of those who carry the ressive genetic trait in the us population is approximately 1% 9.
This is a progressive, neurodegenerative disorder, with diabetes mellitus and optic atrophy presenting in the first decade,2 cranial diabetes insipidus, and sensorineural deafness in the second, and. Genetic and clinical aspects of wolfram syndrome 1, a severe. The aim of this study was to evaluate the cost of illness coi of all people with wolfram syndrome in the uk and to identify major. For language access assistance, contact the ncats public information officer. Didmoad is a commonly accepted anonym for this disorder. Myelodysplastic syndrome developing presacral extramedullary. By now you have probably discovered that you or a member of your family has been diagnosed with wolfram syndrome, hereafter referred to as ws also known by its acronym, didmoad. Her younger brother also developed wolfram syndrome when he was 32i2 years old. Wolfram syndrome is very rare and affects around 1 in 770,000 of the total uk population, or 1 in 500,000 children. If you have problems viewing pdf files, download the latest version of adobe reader. Didmoad, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Immunohistological study of the bladder wall and ureter revealed a marked diminution in nerve fibres, which may have been primary or secondary to the muscle hypertrophy. Of the seven patients, three siblings were followed up for 1017 years.
Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5 n years of age, respectively. Diabetes insipidus, diabetes mellitus, optic atrophy, and. Diabetes associated with wolfram syndrome or didmoad diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, an autosomal recessive disease linked to wfs1 gene, is considered to have the same clinical features as typical type 1 diabetes 1,2. Cardiac abnormalities and wolfram didmoad syndrome. Taste and smell function in wolfram syndrome orphanet. This site is intended to aid those who are affected by wolfram syndrome didmoad. Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in. There is no test for wolfram syndrome but a doctor would diagnose it if a child has both diabetes mellitus and optic atrophy. Wolfram syndrome, first described in 1938, is a rare autosomal recessive disorder. Association of diabetes insipidus, diabetes mellitus, optic. The acronym didmoad summarizes the most frequent findings. The acronym didmoad describes the following clinical features of the syndrome. Microvascular diabetes complications in wolfram syndrome. Wolfram syndrome ws also known as didmoad is an autosomal recessive disorder, caused by mutations in the wfs1 gene which encodes for the protein.
Most patients develop symptoms in the first two decades of life, and the majority suffer from numerous complications that end in premature death at some point in adulthood, mainly due to. Wolfram syndrome ws also known as didmoad is an autosomal recessive disorder, caused by mutations in the wfs1 gene which encodes for the protein wolframin 1 2 3. We describe a 35yearold man with wolfram syndrome, who had marked atrophy of the brain stem, middle cerebellar peduncle, and cerebellum. The minimal criteria for diagnosis are diabetes mellitus and optic atrophy. There was unusually severe urinary tract dilatation which led to an ileal conduit diversion. Wolfram syndrome nord national organization for rare. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. Psychotic manifestation in a patient with wolfram syndrome. Wolfram syndrome, rare neurodegenerative disorder, is known to be. Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade. Pdf wolfram syndrome mim 222300 is the association of juvenile onset diabetes mellitus and optic atrophy, also. Wolfram syndrome is a rare genetic disease characterized by insulindependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration.
Diabetes insipidus, diabetes mellitus, optic atrophy and. Patients present with diabetes mellitus followed by optic. Media in category wolfram syndrome the following 3 files are in this category, out of 3 total. Wolfram syndrome is a rare genetic disorder which is also known as didmoad syndrome after its four most common features diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Successful pregnancy in the didmoad syndrome diabetes.
Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called didmoad diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A case of wolfram syndrome with chronic renal failure annals of. Association of diabetes insipidus, diabetes mellitus. Optic atrophy was apparent in his both eyes on fundoscopic examination. Wolfram syndrome presenting with optic atrophy and. The diabetes insipidus which accompanies the didmoad wolfram syndrome is thought to be hypothalamic in origin, though no formal study of vasopressin secretion in the syndrome has been published, and some data in the literature suggest arenal tubular defect. Wolfram syndrome and wfs1 gene rigoli 2011 clinical. Wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as didmoad diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. He was diagnosed as wolfram didmoad syndrome based on the results of clinical and laboratory examinations.
The transmission of the disease takes place in an autosomal. May 19, 2018 the two types of wolfram syndrome type 1 and type 2 have many overlapping features. Wolfram syndrome is a rare autosomal recessive disorder featuring diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Bilateral optic atrophy in an adolescent male patient. Genetic and clinical aspects of wolfram syndrome 1, a. To target calcium dyshomeostasis for the treatment of wolfram syndrome, we.
Jul 31, 2019 wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhoodonset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100. Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner ear and brain that help control balance and eye movements. He has been followed with the diagnosis of diabetes mellitus type 1 for the last two years and had nocturnal enuresis. This is not a scientific or medical information site, but an information site prepared by those who are similarly affected. We report a child who presented with cyanotic heart disease and was operated twice for cardiac lesion. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Wolfram syndrome is an inherited condition that is typically associated with childhoodonset insulindependent diabetes mellitus and progressive optic atrophy. However, the age of the mother may also be a risk factor. Wed like to understand how you use our websites in order to improve them. If this discovery is recent, it is understandably accompanied with a flood of fears and anxiety that can only be appreciated by those who have undergone a. A rare case of wolfram syndrome moghtaderi m et al in addition to the usual features of ws, individuals with ws type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. A case report poster pdf available february 2017 with 84 reads.
A case of didmoad syndrome diabetes insipidus, diabetes mellitus, optic atrophy and nerve deafness is described. Adultonset type 1 diabetes with didmoad syndromelike. Wolfram syndrome genetic and rare diseases information. All seven patients had diabetes mellitus and optic atrophy. Wolfram syndrome presenting with optic atrophy and diabetes. A cost of illness study evaluating the burden of wolfram. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities wolfram syndrome. Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and. Wolfram or didmoad syndrome ws is a rare autosomal recessive, progressive, neurodegenerative disorder characterized by the association of hdi with diabetes mellitus, optic atrophy, and bilateral sensorineural deafness, though other manifestations may occur, such as gonadal failure, renal outflow tract dilatation secondary to reduced nerve fibers. The aim of this study was to evaluate the cost of illness coi of all people with. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Download fulltext pdf download fulltext pdf schizophrenia in wolfram syndrome didmoad syndrome. Wolfram syndrome ws, a rare genetic disorder, is considered the best prototype of endoplasmic reticulum er diseases.
Although nondisjunction can be of paternal origin, it is much less common. This is a progressive, neurodegenerative disorder, with diabetes mellitus and optic atrophy presenting in the first decade,2 cranial diabetes insipidus, and sensorineural deafness. Wolfram disease is also called didmoad syndrome, an eponym for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Pilz d, quarrell owj, jones ew 1994 mitochondrial mutation commonly associated with lebers hereditary optic neuropathy observed in a patient with wolfram syndrome didmoad. Wolfram syndrome, also called didmoad diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, is a rare autosomalrecessive genetic disorder that causes childhoodonset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders it was first described in four siblings in 1938 by dr. They are subject to an increased rate of various forms of mental illness. Psychotic manifestation in a patient with wolfram syndrome didmoad wolfram syndrome wfs is a rare neurodegerative disorder which is characterized by presentation of diabetes insipidus, juvenile diabetes mellitus, optic atrophy and deafness. Wolfram syndrome uk support group genetic and rare diseases. Didmoad syndrome in a chinese male with hla dr7 drw12. Read successful pregnancy in the didmoad syndrome diabetes insipidus, diabetes mellitus, optic atrophy, deafness, australian and new zealand journal of obstetrics and gynaecology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.