Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings

Bretz, Gedeon W.; Baghdassarian, Alice; Graber, John D.; Zacherle, Barry J.; Norum, Robert A.; Blizzard, Robert M.

doi:10.1016/0002-9343(70)90071-9

Cited by 35 publications

(10 citation statements)

References 12 publications

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“…Involvement of the urinary tract has been reported by many authors (Raiti et al, 1963;Bretz et al, 1970;Aragona et al, 1983). With progressive urinary tract dilation in the absence of mechanical obstruction or vesicoureteric reflux an almost consistent finding, Page et al (1976) suggested that the high urine Bow rate caused by diabetes insipidus led to progressive passive dilation-an association first described by Osler in 1892 and confirmed by investigators in both humans (Carter and Goodman, 1963 ;tenBensel and Peters, 1970) and animals (Silverstein and Tobian, 1961).…”

Section: Discussionmentioning

confidence: 89%

Wolfram's (DIDMOAD) Syndrome and its Urological Manifestation

Aboseif

Gasparini

Schmidt

et al. 1993

British Journal of Urology

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We report 2 patients with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and neural deafness), with emphasis on the urological aspects and their management. Both patients underwent thorough radiological endoscopic and urodynamic evaluation, in addition to detailed evaluation of other systems involved. Each had the characteristic hyper-reflexive neurogenic bladder with sphincteric dyssynergia, which resulted in severe urinary tract dilation. One patient was diagnosed at this institution and managed conservatively with clean intermittent catheterisation and anticholinergic medication; the second patient was referred to us after several attempts at surgical correction. The presentation, details of the urological evaluation with special emphasis on the urodynamic findings, and the outcome of different means of management are discussed.

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Section: Discussionmentioning

confidence: 89%

Wolfram's (DIDMOAD) Syndrome and its Urological Manifestation

Aboseif

Gasparini

Schmidt

et al. 1993

British Journal of Urology

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“…The frequent involvement of siblings is strong evidence for a genetic origin, although there is only one report of the condition affecting more than one generation (Shaw and Duncan, 1958). The mode of the inheritance, if it is indeed a single genetic abnormality, would be most consistent with an autosomal recessive gene (Rose and others, I966;Sunder and others, 1972;Bretz, Baghdassarian, Graber, Zacherle, Norum, and Blizzard, 1970). For convenience we refer to this condition as the DIDMOAD syndrome, from the initial letters of the component disorders: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness.…”

mentioning

confidence: 99%

Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.

Pilley¹,

Thompson²

1976

British Journal of Ophthalmology

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Marquardt and Loriaux (I974) describe a kinship of two siblings with the combination of diabetes mellitus, diabetes insipidus, and optic atrophy in which there was additional evidence of renal tract dilatation, amino-aciduria, and neurosensory hearing deficit. These authors cite 41 cases of optic atrophy and diabetes mellitus reported since an association of these conditions was first described by Wolfram (I938). Damaske, Cohen, Gutman, and Schumacher (1975) reassess these and three more cases to review a full syndrome of diabetes mellitus, diabetes insipidus, and optic atrophy. A total of 22 cases of the full syndrome are presented in these two publications.Combining the information in these two publications the full syndrome consists of diabetes mellitus, diabetes insipidus, optic atrophy, neurosensory deafness, urinary tract abnormalities (such as hydroureter and neurogenic bladder, probably secondary to diabetes insipidus), and aminoaciduria. Several cases have also had retinal pigmentary disturbance, ataxia, gynaecomastia, intermittent or complete amenorrhoea, hypoandrogenicity, and episodic seizures.The onset of diabetes mellitus in all of these cases was in infancy or youth. Often two or more siblings were affected but no other members of the family were involved, save occasionally for a history of diabetes mellitus in the family. The sexes were equally affected (Damaske and others, I975), and although diabetes mellitus usually preceded both diabetes insipidus and optic atrophy this was not always so. The diabetes insipidus often remained undiagnosed until the children continued to have polyuria despite effective therapy for their diabetes mellitus. The severity of each of the three major findings (diabetes mellitus, diabetes insipidus, and optic atrophy) varied, although diabetes mellitus seems to be a constant finding

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“…1. Inheritance patterns in families previously reported (DeLawter, 1949;Fraccaro and Gastaldi, 1952;Casa, 1955;Raiti et al, 1963;Bretz et al, 1970;Ikkos et al, 1970) are summarized in Fig. 2 and in Table I.…”

mentioning

confidence: 83%

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mentioning

confidence: 94%

Pedigrees with diabetes insipidus, diabetes mellitus, and optic atrophy.

Sunder¹,

Danowski²,

Kenny³

et al. 1972

Journal of Medical Genetics

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This report adds 4 members in a kindred with diabetes insipidus, diabetes mellitus, and optic atrophy to the published descriptions (DeLawter, 1949;Fraccaro and Gastaldi, 1952;Casa, 1955;Raiti, Plotkin, and Newns, 1963;Bretz et al, 1970;Ikkos et al, 1970) left frontal area and right anterior temporal spiking. Audiometry demonstrated moderate bilateral perception deafness. Craniotomy performed at age 11 revealed arachnoiditis in the area of the optic chiasm with atrophy of both optic nerves.At age 21, the patient was 167 cm tall and weighed 66-7 kg. In addition to the primary optic atrophy, vertical nystagmus and rare microaneurysms were present. Knee and ankle tendon reflexes could not be obtained. His testis was 4 cm long on the right and 3-5 cm on the left.Except for variable hyperglycaemia, blood and serum solutes have been normal. Glucose tolerance test revealed a clearly diabetic curve with no evidence of insulin response (Morgan, 1966) to an oral glucose load. A minor growth hormone (Morgan, 1966) peak was recorded at the 5th hour of this test. Plasma ll(OH) corticosteroid levels (Mattingly, 1962) have been within the normal range. Intravenous arginine (0-41 mg/kg) had no effect upon serum insulin levels but did produce a rise in serum growth hormone to 11 ng/ml. Serum PBI (Danowski, Johnston, and Greenman, 1950) and thyroidal 13"I uptake were 3-8y% and 16%, respectively.Creatinine clearance (Peters, 1942) was 141 ml/min. The urinary 17-ketosteroids (Holtorff and Koch, 1940) were 12-2 with Porter-Silber chromogens (Porter and Silber, 1950) at 11-4 and compound S metabolites (Henke, Doe, andJacobson, 1960) at 0-88 mg/day. Case 2. (brother of case 1). This 24-year old single male was found to have diabetes mellitus at the age of 3 years following polyuria, polyphagia, and polydipsia. He was treated with an anti-diabetic diet and insulin, most recently 54 units of NPH daily. At the age of 12 years, a diagnosis of optic atrophy was also made following the discovery of optic atrophy in his sibs. At age 15, urine volumes increased to 8 1/dy. Twenty hours of water deprivation raised urine osmolarity relative to serum only slightly, ie, 455 versus 314 milliosmols, respectively, during an interval when urine sugar was zero. Chlorpropamide, 250 mg/dy, reduced urine volumes to 21/dy. The intravenous infusion of arginine (0-41 mg/kg) produced a rise in the serum growth hormone to 25 ng/ml. 408 on 11 May 2018 by guest. Protected by copyright.

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Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings

Cited by 35 publications

References 12 publications

Wolfram's (DIDMOAD) Syndrome and its Urological Manifestation

Wolfram's (DIDMOAD) Syndrome and its Urological Manifestation

Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.

Pedigrees with diabetes insipidus, diabetes mellitus, and optic atrophy.

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