Simultaneous Occurrence of Diabetes Mellitus, Diabetes Insipidus, and Optic Atrophy in a Brother and Sister

Wolfram syndrome: a clinicopathologic correlation

“…This report confirms features of Wolfram’s syndrome that have been described by others, including atrophy of the optic nerves and tract, loss of neurons from the supraoptic and paraventricular nuclei and atrophy of the basal pons [3, 8, 11, 13, 26]. Additionally, we have provided more detailed descriptions of the visual, auditory, hypothalamic-pituitary and the olivopontocerebellar system pathology.…”

“…Other reports have also documented cerebellar atrophy and Purkinje cell loss [3, 17]. Such changes were not significant in our patient.…”

Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome

“…Carson et al . reported gliosis and demyelination in the cerebellum and brainstem in a neuropathological study 13 . This finding has not previously been reported in the radiological literature, to the best of our knowledge.…”

Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome.

“…Niemeyer and Marquardt and Carson et al reported degeneration of the optic nerve and tract in addition to degeneration of the geniculate bodies, the pons, and the cerebellum at necropsy of patients who had had DIDMOAD syndrome. 17 18 Gunn et al and Carson et al described degeneration of the supraoptic and paraventricular nuclei in patients with DIDMOAD syndrome suffering from diabetes insipidus.19 18 Loss of hearing could also be explained on the basis of a degenerative process involving the stria vascularis, the sensory and neural end organs, but sparing the retrocochlear portion of the auditory system, as suggested by the audiologic findings in our patients. The dilatation of the urinary passages has been ascribed to diabetes insipidus by the regression of these findings after treatment with Desamino-d-Arginin-Vasopressin20 or Pitressin.9 The presence of these changes in the absence of diabetes insipidus in one of our patients (case 1) and in the patient reported by Dreyer et afi suggests that a neuronal degenerative process may also be implicated in the pathogenesis of the dilatation of the urinary tract.…”