Familial erythrophagocytic lymphohistiocytosis: neuroradiologic evaluation with pathologic correlation.

Abstract

To report neuroradiologic findings in eight patients with familial erythrophagocytic lymphohistiocytosis (FEL), a rare, fatal autosomal recessive disease of infancy. All patients underwent neuroradiologic magnetic resonance (MR) imaging and computed tomography before and after treatment. MR imaging-guided proton MR spectroscopy was performed in four. Seizures, focal neurologic deficits, and gait abnormalities were the most common neurologic manifestations. Brain involvement on MR images was progressive and consisted of parenchymal atrophy, diffuse abnormal signal intensity in the white matter on T2-weighted images, focal hyperintense lesions in both the white and gray matter, delayed myelination, and parenchymal calcifications. MR spectroscopy showed lower ratios of N-acetyl aspartate to total creatine and higher ratios of choline-containing compounds to total creatine, suggestive of decreased neuronal density and gliosis. Brain MR imaging and MR spectroscopy allow assessment of the severity of FEL and may aid in monitoring the response to treatment.