Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.
Jithin GeorgePushpagiri SandhyaKizhakethil Velliyatil SajithaSoumya SundaramPublished in: BMJ case reports (2021)
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.
Keyphrases
- attention deficit hyperactivity disorder
- autism spectrum disorder
- intellectual disability
- white matter
- high dose
- multiple sclerosis
- mental health
- contrast enhanced
- magnetic resonance
- early onset
- working memory
- resting state
- single cell
- low dose
- machine learning
- magnetic resonance imaging
- functional connectivity
- high resolution
- case report
- computed tomography
- cerebral ischemia
- stem cell transplantation
- emergency department
- gene expression
- photodynamic therapy
- adverse drug
- depressive symptoms