Novel Neuropathological Features of a Child with an Epileptic Encephalopathy Due to Presumed Polyol Dysmetabolism

Abstract

Disorders of carbohydrate metabolism resulting in accumulation of polyols in body fluids were first described in the early 1990s by van der Knapp et al, but this diagnosis remains rare with very few patients reported with primary neurological phenotypes. We present a child with a presumed polyol disorder whose clinical course was similar to two of the original five patients and who had similar findings in quantification of urinary polyols. In addition, we document details of central nervous system pathology in this rare metabolic disorder. The basic pathology is that of a neurodegenerative disorder with hypomyelination leukodystrophy consequent to a defect of oligodendroglia and resultant axonal and neuronal loss.