Neuropediatrics 2006; 37 - THP143
DOI: 10.1055/s-2006-945966

L-2-OH-GLUTARIC ACIDURIA – REPORT ON NEUROIMAGING FINDINGS IN 3 CASES

V Mejaski-Bosnjak 1, L Lujic 1, K Fumic 1, G Krakar 1, V Djuranovic 1, I Boric 1
  • 1Children's Hospital Zagreb, University of Zagreb, Medical School, Zagreb, Croatia

Objectives: L-2-OH-glutaric aciduria (L2HGA) is a rare AR metabolic encephalopathy. Diagnosis relies on elevated urine excretion of L2HGA. Clinical course is slowly progressive and clinical features are variable. Therefore neuroimaging, in particularly MRI is a valuable diagnostic tool.

Methods: We report on 3 children aged 6 months, 5 and 10 years at first presentation. All three children were referred for various neurodevelopmental disorders. The diagnosis was ascertained by specific tests of organic aciduria. The youngest boy underwent intracranial ultrasonography and MRI whereas two older children had MRI examinations.

Results: The youngest boy was referred for macrocrania and developmental delay. Intracranial ultrasonography showed hyperechoic subcortical white matter and poor visualization of sulci and gyri. Nuclei caudati and thalami were hyperechoic, along with widened external subarachnoidal spaces. MRI demonstrated subcortical leukoencephalopathy, i.e. high T2 signal intensity, more pronounced frontoparietally with subcortical cysts, abnormal signal of putamens and dentate nuclei. The second boy was referred for specific learning problems, ataxia and tremor. His MRI findings revealed extensive subcortical leukoencephalopathy more distributed frontally along with temporal lobes cysts. Additionally dentate nuclei had abnormal signal. The third girl was referred for clumsiness, demonstrating on MRI extensive subcortical leukoencephalopathy, hyperintensive signal (T2) in globi pallidi and nuclei dentati.

Conclusion: Neuroimaging findings in 3 children with L2HGA are presented. In all 3 patients MRI demonstrated similar features: subcortical leukoencephalopathy with subcortical cysts, basal ganglia abnormalities and dentate nuclei. Therefore neuroimaging can contribute to diagnosis of this rare condition.