[Wolfram syndrome. Personal experience]

Translated title of the contribution: [Autom. eng. transl.] [Wolfram syndrome. Personal experience]

Giovanni Marietti, C. Bizzarri, Francesca Perrone, Giuseppe Zampino, Guido Conti, Benedetto Falsini, Benedetto Ricci

Research output: Contribution to journalArticle

2 Citations (Scopus)


We report on a young patient who suffered from diabetes mellitus and neurosensorial deafness from the age of two. One year later she was noted to have deteriorated vision and the diagnosis of optic atrophy was made, her visual acuity decreased progressively. At the age of six she was admitted to our hospital because of thiamine responsive megaloblastic anemia, a rare clinical feature of Wolfram's syndrome (only 13 cases have been reported to date). Thiamine (75 mg/day) was commenced at a single oral dose with a rapid increase of Hb level after a few days of therapy. The insulin requirement didn't decrease during thiamine therapy, the C-peptide level after glucagon remained almost indosable. No improvement was observed in the deafness and in the optic atrophy. These findings suggest that diabetes mellitus and optic atrophy, in Wolfram's syndrome are not related to thiamine metabolism.
Translated title of the contribution[Autom. eng. transl.] [Wolfram syndrome. Personal experience]
Original languageItalian
Pages (from-to)127-130
Number of pages4
JournalMinerva Pediatrica
Publication statusPublished - 1995


  • Autoantibodies
  • Child, Preschool
  • Diabetes Mellitus, Type 1
  • Female
  • Hearing Loss, Sensorineural
  • Humans
  • Ophthalmic Nerve
  • Osmolar Concentration
  • Thiamine
  • Wolfram Syndrome


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