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L-2-hydroxyglutaric aciduria in two siblings
László Sztriha1, Aithala Gururaj, Peter Vreken
1Department of Pediatrics, Faculty of Medicine and Health Sciences; United Arab Emirates University, Al Ain, United Arab Emirates.
Insights
Two Pakistani siblings presented with L-2-hydroxyglutaric aciduria, a rare metabolic disorder. This neurodegenerative condition caused significant developmental delays and motor impairments in both children.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- L-2-hydroxyglutaric aciduria is a rare inherited metabolic disorder.
- The genetic basis and precise metabolic defect remain largely unknown.
Observation:
- Two Pakistani siblings, a 6-year-old male and a 2-year-old female, born to consanguineous parents, exhibited symptoms of L-2-hydroxyglutaric aciduria.
- Both patients displayed a chronic, slowly progressive neurodegenerative disorder with onset after infancy, characterized by mental regression and seizures.
- Clinical presentation varied, with cerebellar dysfunction in the male and pyramidal symptoms in the female.
Findings:
- Magnetic resonance imaging (MRI) revealed bilateral symmetrical white matter abnormalities in the subcortical regions, internal and external capsules, basal ganglia, and dentate nuclei.
- The observed neuroimaging findings are consistent with a severe leukoencephalopathy.
Implications:
- This case report highlights the clinical and neuroimaging features of L-2-hydroxyglutaric aciduria in siblings.
- Further research is needed to elucidate the underlying metabolic defect and genetic etiology of this disorder.
- Understanding the pathophysiology may lead to improved diagnostics and potential therapeutic strategies for affected individuals.
Abstract:
Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder.