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A 29-year-old woman born from consanguineous parents developed, since the age of 5, insulin-dependent diabetes mellitus, bilateral optic atrophy, neurosensory hearing loss, ataxia and chronic depression. The patient had normal learning capacities. Clinical examination showed ataxia and reduced lower leg deep tendon reflexes. Testing of cognitive functions revealed clearly a frontal network deficit and amnesic dysfunction together with a mild to moderate depression. Brain MRI …
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.