Wolfram syndrome: a clinicopathologic correlation.

Acta Neuropathol

Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.

Published: September 2009

AI Article Synopsis

  • Wolfram syndrome is a neurodegenerative disorder marked by diabetes mellitus, optic atrophy, diabetes insipidus, and often hearing loss.
  • Post-mortem neuropathologic findings in a patient showed significant neuron loss in critical brain areas, including the hypothalamus and pontine regions, while the cerebellum remained largely unaffected.
  • The study highlights correlations between neurological changes and clinical symptoms, enhancing understanding of the disease's impact on vision and hearing.

Article Abstract

Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a neurodegenerative disorder characterized by diabetes mellitus and optic atrophy as well as diabetes insipidus and deafness in many cases. We report the post-mortem neuropathologic findings of a patient with Wolfram syndrome and correlate them with his clinical presentation. In the hypothalamus, neurons in the paraventricular and supraoptic nuclei were markedly decreased and minimal neurohypophyseal tissue remained in the pituitary. The pontine base and inferior olivary nucleus showed gross shrinkage and neuron loss, while the cerebellum was relatively unaffected. The visual system had moderate to marked loss of retinal ganglion neurons, commensurate loss of myelinated axons in the optic nerve, chiasm and tract, and neuron loss in the lateral geniculate nucleus but preservation of the primary visual cortex. The patient's inner ear showed loss of the organ of Corti in the basal turn of the cochleae and mild focal atrophy of the stria vascularis. These findings correlated well with the patient's high-frequency hearing loss. The pathologic findings correlated closely with the patient's clinical symptoms and further support the concept of Wolfram syndrome as a neurodegenerative disorder. Our findings extend prior neuropathologic reports of Wolfram syndrome by providing contributions to our understanding of eye, inner ear and olivopontine pathology in this disease.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758421PMC
http://dx.doi.org/10.1007/s00401-009-0546-8DOI Listing

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