JUVENILE DIABETES MELLITUS, OPTIC ATROPHY, HEARING LOSS, DIABETES INSIPIDUS, ATONIA OF THE URINARY TRACT AND BLADDER, AND OTHER ABNORMALITIES (WOLFRAM SYNDROME)

1977 ◽  
Vol 66 (s264) ◽  
pp. 1-16 ◽  
Author(s):  
C.W.R.J. Cremers ◽  
P.G.A.B. Wijdeveld ◽  
A.J.L.G. Pinckers
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Urinary Tract ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Wolfram Syndrome ◽  
Juvenile Diabetes ◽  
Juvenile Diabetes Mellitus

Visual Function in the Syndrome: Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, and Hearing Loss

1974 ◽  
Vol 23 (S1) ◽  
pp. 187-189 ◽  
Author(s):  
Jean-Real Brunette ◽  
John M. Little
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Diabetes Insipidus ◽  
Neurogenic Bladder ◽  
Autonomic Dysfunction ◽  
Optic Atrophy ◽  
Visual Function ◽  
Juvenile Diabetes ◽  
Juvenile Diabetes Mellitus ◽  
Actual Evaluation

Since the late thirties a syndrome has been progressively completing its description. It consists essentially in juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss and optic atrophy. Neurosensory hearing loss, neurogenic bladder, autonomic dysfunction and hyperalanineuria have been added. The syndrome is generally familial.Electrophysiologic and psychophysiological retinal studies have been done in these cases. Profound electrophysiological disturbance has been described. Cases under actual evaluation are presented. Physiopathologic processes remain a problem. The nature of the retinal affection is also open for discussion.

ASSOCIATION OF JUVENILE DIABETES MELLITUS, PRIMARY OPTIC ATROPHY AND PERCEPTIVE HEARING LOSS IN THREE SIBS, WITH ADDITIONAL IDIOPATHIC DIABETES MELLITUS INSIPIDUS IN ONE CASE

1970 ◽  
Vol 65 (1) ◽  
pp. 95-102 ◽  
Author(s):  
D. G. Ikkos ◽  
G. R. Fraser ◽  
E. Matsouki-Gavra ◽  
M. Petrochilos
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Autosomal Recessive ◽  
Juvenile Diabetes ◽  
Juvenile Diabetes Mellitus ◽  
Autosomal Recessive Manner

ABSTRACT A family is described showing the association of juvenile diabetes mellitus, optic atrophy, and mild perceptive deafness inherited in an autosomal recessive manner. It is pointed out that concomitant diabetes insipidus has predominantly involved females suffering from this association.

Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus—a syndrome

1976 ◽  
Vol 89 (4) ◽  
pp. 565-570 ◽  
Author(s):  
Tania Gunn ◽  
Robert Bortolussi ◽  
John M. Little ◽  
Frederick Andermann ◽  
F. Clarke Fraser ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Sensory Nerve ◽  
Juvenile Diabetes ◽  
Juvenile Diabetes Mellitus

scholarly journals Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

2004 ◽  
Vol 89 (4) ◽  
pp. 1656-1661 ◽  
Author(s):  
R. Medlej ◽  
J. Wasson ◽  
P. Baz ◽  
S. Azar ◽  
I. Salti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Microvascular Disease ◽  
Insulin Dependent Diabetes Mellitus ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients

Abstract Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

scholarly journals A Case of Wolfram Syndrome Presenting with Restlessness

2016 ◽  
Vol 34 (1) ◽  
pp. 42-44
Author(s):  
Syed Ghulam Mogni Mowla ◽  
Md Titu Miah ◽  
Ashraf Ur Rahman ◽  
Shamsuddoha Sarker Shonchoi ◽  
Muhammad Nazmul Alam ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Early Detection ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Early Onset ◽  
Genetic Disorder ◽  
Wolfram Syndrome ◽  
Supportive Treatment ◽  
Rare Genetic Disorder

Wolfram Syndrome ( DIDMOAD) is a rare genetic disorder presenting with Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness and some other neurological , reproductive , hormonal, urological and psychic problems. About 200 cases have been reported so far. Here we present a 25 years old Bangladeshi male having early onset Diabetes Mellitus, optic atrophy, deafness and many other features consistent with Wolfram Syndrome. We examined the patient thoroughly and did necessary investigations to confirm our diagnosis. As there is no cure of this disorder, we gave symptomatic and supportive treatment to the patient to make his life easier. Although the outcome is unrewarding , such patients will be kept in regular follow up for early detection of new complications and possible solutions.J Bangladesh Coll Phys Surg 2016; 34(1): 42-44

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