Cases reported "Wolfram Syndrome"

Filter by keywords:



Filtering documents. Please wait...

11/47. The wolfram syndrome: a primary neurodegenerative disorder with lethal potential.

    We describe four cases of the wolfram syndrome; a rare congenital syndrome characterised in it's complete form by diabetes mellitus, diabetes insipidus, optic atrophy, nerve deafness and dilatation of the urinary tract. All four of the cases described developed grand mal epilepsy in their second and third decades. Two of the cases developed progressive ataxia. There was one death due to status epilepticus. Absence of most of the corpus callosum and of the septum pellucidum was noted at autopsy. This pathological finding has not been reported previously in this syndrome. These cases highlight the neuro-degenerative aspects of the wolfram syndrome. The literature on neurological aspects of the syndrome is reviewed.
- - - - - - - - - -
ranking = 1
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

12/47. Imaging characteristics of familial wolfram syndrome.

    wolfram syndrome is a rare diffuse neurodegenerative disorder also known as DIDMOAD due to its characteristics of diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It is also associated with a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Imaging findings include absence of the short T1 nature of the pituitary posterior lobe, atrophy of the optic nerve, chiasma, and tracts. Atrophy of the brain stem and cerebellum has also been reported. We describe a 15-year-old boy and an 11-year-old girl with wolfram syndrome who were siblings from a diabetes mellitus family. They received regular insulin control at our hospital and had symptoms of frequent urinary tract infection and diabetes insipidus. magnetic resonance imaging revealed marked pons and cerebellar atrophy. optic nerve and chiasma atrophy was also noted.
- - - - - - - - - -
ranking = 2
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

13/47. Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome.

    wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide spectrum of abnormalities of the central nervous system, urinary tract and endocrine glands is also observed. We report cranial MRI findings in a 32-year-old female patient with wolfram syndrome. In addition to the classical features, including absence of the normal high signal of the neurohypophysis, atrophy of visual pathways, the brainstem, cerebellum and cerebral cortex, we observed bilateral hyperintensity on proton density- and T2- weighted images related to the optic radiations in the periventricular white matter of the temporal and parieto-occipital lobes, which may reflect gliosis pathologically.
- - - - - - - - - -
ranking = 1
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

14/47. Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with wolfram syndrome.

    wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.
- - - - - - - - - -
ranking = 1
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

15/47. wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.

    wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
- - - - - - - - - -
ranking = 1
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

16/47. Three cases of didmoad or Wolfram's syndrome: urological aspects.

    We report on 3 patients with the rare syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, neurosensory deafness, atony of the urinary tract and other abnormalities (DIDMOAD or Wolfram's syndrome). All 3 patients had diabetes mellitus, optic atrophy, deafness and dilatation of the urinary tract. In 2 patients there was diabetes insipidus. The possibility of anatomical outlet obstruction or a neurogenic bladder was eliminated radiologically and urodynamically, and dilatation of the urinary tract was considered to be either a consequence of high diuresis associated with diabetes insipidus or a degenerative process affecting the central and peripheral nervous system, which can explain all of the manifestations of the syndrome except diabetes mellitus. A significant improvement in bilateral urinary tract distention was achieved by bladder drainage in the first 2 cases, while desmopressin therapy dramatically decreased the daily urinary output.
- - - - - - - - - -
ranking = 3
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

17/47. A novel mutation of WFS1 gene in a Japanese man of wolfram syndrome with positive diabetes-related antibodies.

    wolfram syndrome is a rare, autosomal recessive disorder characterized by early-onset diabetes mellitus, optic atrophy and neurological and endocrinological abnormalities. A 47-year-old Japanese man with frequent severe hypoglycemic episodes was diagnosed as wolfram syndrome based on clinical features and laboratory data. He had positive glutamic acid decarboxylase (GAD) and insulinoma-associated antigen-2 (IA-2) antibodies, both uncommon in this syndrome. Genetic analysis revealed that WFS1 gene of the patient has a homozygous 5 base pairs (AAGGC) insertion at position 1279 in exon 8, causing a frameshift at codon 371 leading to premature termination at codon 443.
- - - - - - - - - -
ranking = 0.088866093053859
keywords = diabetes
(Clic here for more details about this article)

18/47. Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (wolfram syndrome)--neurological findings and prognostic implications.

    The authors report on one case of wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
- - - - - - - - - -
ranking = 5.0177732186108
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

19/47. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families.

    Four Sudanese children with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) are reported. They were two boys (aged 15 and 16 years) in one family and a boy and a girl (aged 16 and 6 years, respectively) in another family. diabetes mellitus was first to appear (at 3-8 years) followed by deafness and visual failure; and the disease ended fatally in one patient (aged 20 years). In the other three, diabetes insipidus was confirmed using water deprivation test for 8 hours. The maximum urine osmolality ranged between 131-523 mOsm/kg, whereas the corresponding plasma osmolality ranged between 315-332 mOsm/kg. Slight further improvement in urine concentration was observed in 2 of the patients following the use of desmopressin (DDAVP, 20 micrograms intranasally). Intravenous pyelography, voiding cystourethrography and ultrasound revealed severe bilateral hydronephrosis, dilated ureters and distended bladder without vesicoureteral reflux in the three patients. With the high rate of consanguinity prevalent in North africa and the middle east, we recommend examining children who present with diabetes mellitus in this region for features of DIDMOAD syndrome.
- - - - - - - - - -
ranking = 2.8411405330232
keywords = diabetes insipidus, insipidus, diabetes
(Clic here for more details about this article)

20/47. Psychiatric findings in wolfram syndrome homozygotes.

    diabetes mellitus and bilateral optic atrophy are the defining characteristics of the autosomal recessive wolfram syndrome. diabetes insipidus, neurogenic bladder, deafness, and other neurological manifestations are frequent. A review was made of the medical records of 68 wolfram syndrome patients, aged between 8 and 43 years, identified by casefinding throughout the USA. 41 of the patients (60%) had episodes of severe depression, psychosis, or organic brain syndrome, as well as impulsive verbal and physical aggression. These symptoms were very severe in 17 patients (25%), of whom 12 required admission to a psychiatric hospital and 11 attempted suicide. We conclude that the wolfram syndrome gene predisposes homozygotes to psychiatric illness.
- - - - - - - - - -
ranking = 0.19251191464503
keywords = insipidus
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Wolfram Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.