Jacqueline du Pré and her alternative diagnosis.

JacquelineduPré (26 January 1945-19 October 1987) is one of the greatest cellists in the 20th century. Her musical career was terminated at age 28, allegedly due to multiple sclerosis (MS). MS is an immune-mediated demyelinating disease of the central nervous system with axonal involvement, characterized by the dissemination in time and space of the lesions (plaques). Diverse neurological symptoms may occur in MS, and a variety of symptoms relentlessly accumulated in her case after the diagnosis in 1973, which is concordant with primary progressive rather than relapsing-remitting form of MS. No radiological confirmation was however possible in her days and the diagnosis should be reconsidered, because her symptoms had some unusual features in MS. First, her principal symptoms, aside from transient visual and urological problems noticed earlier, began in the upper and lower limbs, often only in the upper limbs, then followed by the involvement of lower cranial nerves, and by the cognitive decline with changes in character. Hence the pattern of progression was ascending from the cervical spinal cord to the brainstem and to the cerebrum, which is not the pattern of dissemination in space typical of MS. Her clinical status appeared steroid-dependent temporarily in the early stage of the disease, which is also unusual in MS and some different etiology deserves consideration. We suppose that Uhthoff phenomenon, i.e. worsening of symptoms by the elevation of body temperature, may have been negative contrary to the previous interpretation, and if we are correct the absence of this sign does not support the demyelinating pathophysiology of her disease. Now that there is no objective medical information sufficiently disclosed, another scenario may be hypothesized, although MS is still a likely possibility. We discuss that syringomyelia/syringobulbia associated with Chiari malformation type I and obstructive hydrocephalus can be an alternative diagnosis.