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

Abstract

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.

Optic atrophy in Wolfram syndrome

“…On the basis of these observations, together with the clinical and electrophysiologic findings, it has become clear that optic atrophy in Wolfram syndrome is merely a part of a more generalized primary affection of neural structures which is independent of diabetes mellitus. Reviews of family studies (Sunder et al, 1972;Fraser & Gunn, 1977) suggest that this process of neural degeneration is inheritable. Carson et al (1977) have gone further and suggested that Wolfram syndrome may in fact be an earlier phase of Gunn et al (1976) proposed that a common neuroectodermal origin between pancreatic endocrine cells and neural cells could perhaps provide a link between the neurologic lesions and the metabolic defect.…”

“…Although optic atrophy is a major component of the syndrome it is yet not clear from the literature whether the atrophy is secondary to retinal dysfunction (Sunder et al, 1972;Mayer et al, 1985), or merely represents a primary degeneration of the optic pathways (Damaske et al, 1975;Legein & Van Heyst, 1977;Saraux et In the present study we present the clinical and electrophysiologic findings in 11 patients with Wolfram syndrome and histopathologic results of one case.…”

Vasopressin function in familial cranial diabetes insipidus

“…The mode of inheritance is different in the 2 types of familial CDI. It appears to be autosomal recessive in the familial syndrome of DIDMOAD (Sunder et al, 1972) but usually autosomal dominant in isolated CDI (Pender and Fraser, 1953).…”

Wolfram's Syndrome: A Clinical, Diagnostic, and Interpretative Contribution

“…76 DM and DI developed concomitantly in a few weeks, and an OA of increasing severity supervened in a young boy after a head trauma. 77 Even if the alteration of carbohydrate metabolism in WS appears to be similar to IDDM (e.g., lack of insulin secretion after stimulative tests 26 ' 40 and low plasma Cpeptide level in several cases 81014 ), the following characteristics indicate that it has a different nature. J) HLA antigens are not typical of this type of diabetes (Table 5).…”