Journal of Pediatric Epilepsy 2018; 07(04): 142-147
DOI: 10.1055/s-0039-1678560
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Eric David Marsh
1   Division of Neurology, Department of Pediatric and Neurology, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Anna Gunhild Christina Bergqvist
1   Division of Neurology, Department of Pediatric and Neurology, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Livija Medne
1   Division of Neurology, Department of Pediatric and Neurology, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Patrice Hassoun
2   Department of Pathology, Hackensack Hospital, Hackensack, New Jersey, United States
,
Nicholas Konstantinos Gonatas*
3   Division of Neuropathology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Ralph C. Eagle Jr.
4   Department of Pathology, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
,
Angela Nicole Viaene
5   Department of Pathology-Neuropathology, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Lucy Balian Rorke-Adams
5   Department of Pathology-Neuropathology, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
› Author Affiliations
Further Information

Publication History

09 July 2018

05 January 2019

Publication Date:
13 February 2019 (online)

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.

* Dr. Gonatas is deceased.


 
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