Five Patients with a Recently Described Novel Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Elevated Lactate

Abstract

Recently, a novel leukoencephalopathy syndrome was described in eight patients with a distinct pattern of MRI abnormalities. Here we describe the clinical, laboratory, and MRI findings in five new, unrelated patients. The clinical picture was homogeneous with onset in childhood, a slowly progressive course, variable mental deficits, signs of pyramidal and cerebellar dysfunction and sometimes dorsal column dysfunction. In two patients, a minor head trauma was followed by neurological deterioration and fever. No underlying metabolic defect was found. In two patients serum lactate was elevated, but no evidence of a mitochondrial defect was found. MRI showed variably extensive, diffuse, or spotty cerebral white matter abnormalities and a selective involvement of particular brainstem tracts. The tracts involved included the pyramidal tracts, sensory tracts, superior and inferior cerebellar peduncles, and intraparenchymal trajectories of the trigeminal nerve. In four patients spinal MRI was performed and revealed involvement of tracts over the entire length depicted. Single voxel proton MRS in three patients revealed increased lactate within the abnormal white matter. The uniform and highly characteristic MRI findings, in combination with the similarities in clinical and MRS findings, provide evidence for a distinct nosological entity.

Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients

“…This finding is in contrast with previous reports 7, [9][10] , which homogeneously detected involvement of this anatomical structure. Cerebellar white matter was involved diffusely in pa-…”

“…. To our knowledge, only ten additional cases with similar clinical and MRI findings have been demonstrated 9,10 . Neurological symptoms frequently start in childhood and progress slowly.…”

“…Nevertheless, Serkov et al 10 described normal medial lemniscus and pyramidal tracts within the midbrain in two out of five patients described.…”

“…Previous reports have emphasized the involvement of the sensory and pyramidal tracts over their entire length 9,10,12 . Conversely, in our cases we have not detected MRI abnormalities within the midbrain and have not found involvement of the medial lemniscus at the level of the pons.…”

DARS -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

“…The typical clinical course in LBSL is slowly progressive, although 2 patients with sudden deterioration after a mild head trauma followed by fever have been reported. 6 Infantile onset with severe disease course is rare in LBSL. MRI in these cases shows diffuse supratentorial white matter abnormalities, reminiscent of those seen in HBSL, 7,8 whereas in most LBSL cases, supratentorial signal changes are focal.…”