[D-2-hydroxyglutaric aciduria. Report of two cases]

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare inherited metabolic disorder affecting the central nervous system. Prior research has shown that it is associated with abnormal accumulation of D-2-hydroxyglutaric acid in body fluids. Neuroimaging studies have revealed patterns of delayed cerebral maturation and sub-ependymal cysts in affected infants. However, the clinical variability of D-2-HGA remains poorly understood. No prior work had resolved the full range of symptoms and imaging features. This gap motivated further investigation into the diagnostic and clinical features of the condition. Researchers have proposed that early recognition of D-2-HGA could improve diagnostic accuracy. The disorder is often missed in differential diagnoses due to its rarity. Understanding the spectrum of presentations is essential for timely diagnosis.

The aim of this study is to describe the clinical and neuroimaging features of two pediatric patients diagnosed with D-2-hydroxyglutaric aciduria. The specific problem addressed is the diagnostic challenge posed by the variable presentation of D-2-HGA. The motivation stems from the need to expand the known clinical and radiological features of the disorder. The authors propose that detailed case reports can help clinicians recognize D-2-HGA in neonates and infants. The study focuses on the biochemical and neuroimaging findings in two affected patients. It seeks to reinforce the existing clinical phenotype of D-2-HGA. The authors suggest that these findings may aid in differential diagnosis. The study contributes to the limited literature on this rare disorder.

The study reports clinical, biochemical, and neuroimaging data from two pediatric patients with confirmed D-2-hydroxyglutaric aciduria. Clinical assessments included neurological exams and developmental evaluations. Biochemical testing involved measuring D-2-hydroxyglutaric acid levels in body fluids. Neuroimaging was performed using magnetic resonance imaging (MRI). Radiological findings were analyzed for characteristic features of D-2-HGA. The authors compared the findings with previously reported cases in the literature. The diagnostic approach relied on a combination of clinical, biochemical, and imaging data. The study emphasizes the importance of integrating multiple data sources for accurate diagnosis.

The first patient presented with severe early infantile-onset epileptic encephalopathy and marked hypotonia. The second patient had hypotonia and developmental delay but no seizures. Both patients showed abnormal neuroimaging findings, including delayed cerebral maturation. Sub-ependymal cysts were observed in both cases on MRI scans. D-2-hydroxyglutaric acid was detected in body fluids of both patients. The findings align with previously reported features of D-2-HGA. The authors propose that these results reinforce the known clinical and radiological phenotype. The study suggests that D-2-HGA should be considered in neonates with unexplained CNS dysfunction.

The authors conclude that D-2-hydroxyglutaric aciduria should be included in the differential diagnosis of neonates and infants with epileptic encephalopathy and CNS dysfunction. The study supports the use of clinical findings and neuroimaging patterns for diagnosis. Detection of D-2-hydroxyglutaric acid in body fluids is essential for confirming the diagnosis. The authors propose that the described cases expand the known clinical spectrum of D-2-HGA. The findings reinforce the importance of early recognition for timely management. The study highlights the variability in clinical presentation of D-2-HGA. The authors suggest that clinicians should consider D-2-HGA in infants with unexplained neurological symptoms. The study contributes to the understanding of this rare metabolic disorder.