Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1716566
Case Report

D2-Hydroxyglutaric Aciduria Type II with Subdural Hemorrhage Identified in a 3-Month-Old Infant: A Case Report

Jennie Green
1  Department of Norton Children's Pediatric Protection Specialists, Norton Children's Medical Group Affiliated with University of Louisville School of Medicine, Louisville, Kentucky, United States
,
Vinod Rao
1  Department of Norton Children's Pediatric Protection Specialists, Norton Children's Medical Group Affiliated with University of Louisville School of Medicine, Louisville, Kentucky, United States
,
Melissa Currie
1  Department of Norton Children's Pediatric Protection Specialists, Norton Children's Medical Group Affiliated with University of Louisville School of Medicine, Louisville, Kentucky, United States
› Author Affiliations

Abstract

Subdural hemorrhage in association with D2-hydroxyglutaric aciduria (D2-HGA) Type II has only been described once in the medical literature in a 15-month-old child (1). Our case report describes a much younger 3-month-old infant previously diagnosed with D2-HGA Type II, who presented clinically with seizures and identified to have bilateral subdural hematomas concerning for possible physical abuse. This case report discusses the genetic diagnosis of D2-HGA and interpretation of subdural hemorrhage in context of evaluating possible physical abuse concerns. When an underlying medical condition is known to be present and a child presents with findings that may be concerning for physical abuse, it is critical to consider the possibility that the underlying medical condition may contribute to or may be the cause of the findings.



Publication History

Received: 03 June 2020

Accepted: 07 August 2020

Publication Date:
09 September 2020 (online)

Georg Thieme Verlag KG
Stuttgart · New York