Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: The presentation of a rare case

Abstract

Characterized by brain stem and spinal cord involvement and elevated lactate level, leukoencephalopathy (LBSL) is a white matter disease that has been newly described on the basis of magnetic resonance imaging (MRI) signs. The clinical signs and symptoms indicate progressive pyramidal, cerebellar, and dorsal column dysfunction. Its laboratory findings are generally non-revealing. There are some typical MRI and magnetic resonance spectroscopy (MRS) signs. We present a 11-year-old boy patient with cerebellar, pyramidal and dorsal column dysfunctions and specific MRI and characteristic MRS findings. MRI and MRS findings were consistent with LBSL. LBSL is a rare leukoencephalopathy. The imaging features are very specific, and radiology has a key role to play in directing the diagnosis and management.