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Wolfram syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 20.11.2021
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Tungsten Syndrome (DIDMOAD syndrome - Diabetes Insipidus, Diabetes Mettitus, Optic Atrophy, Deafness, OMIM 598500) is described for the first time by DJ Wolfram and N.R. WagenerB 1938 as a combination of juvenile diabetes mellitus and optical atrophy, which was subsequently supplemented with diabetes insipidus and deafness. To date, about 200 cases of this disease have been described.
The syndrome is characterized by genetic heterogeneity. It is inherited autosomally-recessively. The gene is localized on chromosome 4p. Pathology is associated with a violation of communication between the nuclear and mitochondrial genomes. In muscles and lymphocytes, 60% of patients have point mutations of mtDNA, which occur with Leber's neuro-optical atrophy. Sometimes the syndrome is associated with the presence of a large mitochondrial deletion.
Symptoms of Wolfram syndrome. The disease develops in early childhood (1-8 years). It begins with the onset of symptoms of diabetes mellitus. In this case, juvenile (non-autoimmune) diabetes mellitus is formed in conjunction with atrophy of the optic nerves. Subsequently, diabetes insipidus of central genesis (vasopressin deficiency, observed in 70% of patients) and hearing loss (in 60%), which joins after 10 years of age. First, there is a decrease in hearing at high frequencies. The disease has a progressive nature.
At half of patients the neurologic symptomatology joins: a myoclonus, convulsions, ataxia, dysarthria, nystagmus. Sometimes anosmia develops, strokes, retinitis pigmentosa, anemia, neutropenia, thrombocytopenia.
With ultrasound of the kidneys, 50% reveal anomalies of the urinary system (hydronephrosis, dilatation of the ureters). According to MRI data, atrophy of the brainstem and cerebellum is detected. Often, EEG changes and electroretinograms are noted. In the morphological study of muscle biopsies, the phenomenon of RRF is often not determined. A decrease in the level of glutamate dehydrogenase is characteristic. The level of activity of the respiratory chain enzymes is within normal limits.