Magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh's disease)
J. T. Kissel, S. Kolkin, D. Chakeres, C. Boesel and K. Weiss
Leigh's disease, or subacute necrotizing encephalomyelopathy (SNE), in
adults is rare, and its diagnosis has depended on the postmortem
identification of characteristic lesions in a typical distribution. We
observed an autopsy-proved case of SNE in which the diagnosis was
established by the distribution and evolution of lesions documented by
serial magnetic resonance imaging (MRI). A 21-year-old woman insidiously
developed diplopia and gait disturbance, and subsequently deteriorated to a
vegetative state over seven months. An initial MRI obtained one month after
presentation showed increased signal intensity that surrounded the aqueduct
of Sylvius and involved the tectum of the midbrain. Serial MRI scans showed
these lesions to extend and symmetrically involve the tectum of the
midbrain, caudate, putamen, globus pallidus, and substantia nigra, while
sparing the mammillary bodies and red nuclei. Despite treatment with 2 g of
thiamine administered intravenously daily, she continued to deteriorate and
died. Results of an autopsy established the diagnosis of SNE and confirmed
the MRI-identified distribution of lesions. To our knowledge, this case is
the first report of MRI findings in an adult with autopsy-proved SNE,
suggesting that MRI can be valuable in the early diagnosis of this disease.
