An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction and attention deficits with a slow psychomotor speed. MR brain imaging displayed confluent hyperintensities of periventricular and subcortical white matter. Low levels of arylsulfatase A confirmed the diagnosis. Impaired cortical glucose metabolism especially of the medial temporal and frontal cortices was observed using positron emission tomography and fluor-18-labeled fluorodesoxyglucose. The neuropsychological deficits are related to the location of deficits in glucose metabolism.
The purpose of this article is to recount a piece of medical history, even though it has been told many times before. Everyone has heard about patients who visit their doctors time and again with physical complaints without the physician being able to find an adequate organic cause. The oldest descriptions of this illness can be found on ancient Egyptian papyrus rolls, dating back to about the year 1900 BC (Shorter F. A history of psychosomatic illness in the modern era. New York: Macmillan; 1992). The need to tell these stories repeatedly can be attributed to the chameleonic nature of the illness which is difficult to spot because of its changing expression, which one could say takes on the appearance of its surroundings. Throughout history, humans have had the capacity to develop symptoms almost identical with the real diseases of the time. The term somatize is often used descriptively about patients with physical complaints without any recognizable organic basis. Shorter proposes that mankind has a shared "symptom-pool" containing all existing symptoms. Patients who convert their mental state into bodily symptoms--somatization--take their symptoms from this symptom-pool, albeit it is possible for new symptoms to emerge. For centuries patients have presented with sensory symptoms such as paresthesias. In the 19th century patients began to exhibit motorial symptoms with attacks of hysteria. According to Shorte's theory, this multitude of manifestations should be perceived as culturally determined or as different expressions of the same underlying phenomenon.
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