L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase (L2HGDH) enzyme. Dystonia, ataxia, pyramidal involvement and seizures are the common clinical manifestations. Coexisting behavioural problems and intellectual disability are also seen, however attention deficit hyperactivity disorder (ADHD) as the presenting clinical feature in L2HGA is rarely described. Here, we report a 5-year-old boy with behavioural problems and mild language delay. On clinical assessment, he fulfilled the diagnostic criteria for ADHD. His MR brain sequences showed classical finding of L2HGA—bilateral symmetrical T2-weighted hyperintensity involving subcortical white matter, basal ganglia and dentate nucleus. Urine analysis showed increased levels of 2-hydroxyglutaric acid and exome sequencing (targeted leukodystrophy panel) revealed homozygous likely pathogenic mutation in L2HGDH. He was started on high dose of riboflavin and levocarnitine and rehabilitative measures with which he had improvement in behavioural symptoms. This case illustrates the pivotol role of MR brain imaging in the diagnosis of inborn errors of metabolism.
- vitamins and supplements
- Developmental paediatrics
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Contributors JG: study design, acquisition of data and drafting of manuscript. PS: acquisition of data and drafting the manuscript. KVS: critical revision and supervision of manuscript. SS: study concept, design, drafting of manuscript and supervision and critical revision of manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.