MRI features in 17 patients with l2 hydroxyglutaric aciduria

Context: Neurometabolic disorders form an important group of potentially treatable diseases. It is important to recognize the clinical phenotype and characteristic imaging patterns to make an early diagnosis and initiate appropriate treatment. L-2-hydroxy glutaric aciduria (L2HGA) is a rare organic aciduria with a consistent and highly characteristic imaging pattern, which clinches the diagnosis in most cases. Aims: The study aims to describe the clinical profile, magnetic resonance imaging (MRI) patterns, and outcome in a cohort of children with L2HGA and to assess the clinicoradiological correlation. Materials and Methods: This is a retrospective descriptive study done at the Department of Radiodiagnosis and Neurological Sciences of our institution. Clinical and radiological findings of children diagnosed with L2HGA over an 8-year period (2010–2017) were collected and analyzed. Descriptive statistical analysis of clinical and imaging data was performed. Results: There were six girls and four boys. A total of 14 MRI brain studies in 10 patients with the diagnosis were analyzed. MRI of all patients showed a similar pattern with extensive confluent subcortical white-matter signal changes with symmetrical involvement of dentate nuclei and basal ganglia. In two children who presented with acute decompensation, there was asymmetric cortical involvement and restricted diffusion, which are previously unreported. There was no significant correlation between the radiological pattern with the disease duration, clinical features, or course of the disease. Conclusion: MRI findings in L2HGA are highly consistent and diagnostic, which helps in early diagnosis, particularly in resource-constraint settings, where detailed metabolic workup is not possible. The article also describes novel clinical radiological profile of acute encephalopathic clinical presentation.

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“…The main imaging features of the cases with chronic clinical course in our series are consistent with that of previous literature. [3,21,22]…”

Section: Discussionmentioning

confidence: 99%

“…This could have contributed to the peripheral rim sign described along the striatum in previous reports. [4,21]…”

Section: Discussionmentioning

confidence: 99%

Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort

Muthusamy

Sudhakar

Christudass

et al. 2019

JCIS

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“…Brain MRI findings are quite specific in terms of L2HGA disease and enable making a diagnosis as a result of imaging obtained because of different symptoms. In a study conducted with 17 subjects, frontotemporal white matter involvement was reported in all subjects; parietal white matter involvement was found in 94% subjects and occipital white matter involvement was found in 88% ( 6 ). When the extension of white matter involvement was examined, it was observed that subcortical involvement predominated (82.3%) and central and periventricular white matter involvement were found in 11.7% and 5.9% of the subjects, respectively.…”

Section: Discussionmentioning

confidence: 98%

“…In different case series, different rates of globus pallidus, putamen, and caudate nucleus involvement have been reported. In the advancing stages of the disease, cerebral and cerebellar atrophy may be added to the radiologic findings ( 5 , 6 ). The definite diagnosis is made by demonstrating increased L-2-hydroxyglutaric acid in body fluids and/or by molecular analysis of the L2HGDH gene ( 1 , 7 ).…”

Section: Introductionmentioning

confidence: 99%

L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi

et al. 2020

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Aim: L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiologic, and genotypic characteristics of patients with L-2-hydroxyglutaric aciduria who were followed in our outpatient clinic. Material and Methods: Twenty-five patients with L-2-hydroxyglutaric aciduria were enrolled in the study. Data regarding demographic, clinical, and neuroradiologic findings and molecular analysis were evaluated retrospectively. Results: The mean age of patients at the time of diagnosis was 12.09±8.02 years, whereas the mean age at the time of the first symptoms was 39.47±29.96 months. Diagnostic delay was found as 9.95±7.78 years. Developmental delay, decrease in school success, and seizures were the most common initial symptoms; however, behavioral problems and seizures became more prominent in the disease course. At the time of diagnosis, mental retardation and at least one pathologic cerebellar finding were detected in all symptomatic patients. Three patients developed brain tumors. The most common neuroimaging findings were subcortical white matter changes and cerebellar dentate nucleus involvement. In one patient, there was only isolated basal ganglia involvement without white matter lesions. Patients with similar genotypic features exhibited different clinical and radiologic findings. Conclusion: Although clinical symptoms appear early in L-2-hydroxyglutaric aciduria, there is approximately a ten-year delay in diagnosis. In subjects in whom brain tumor is detected in early childhood, L-2-hydroxyglutaric aciduria should be considered in the differential diagnosis in the presence of mental retardation accompanied by developmental delay, cerebellar and pyramidal findings, and behavior disorders in a wide spectrum ranging from autism spectrum disorder to psychosis. In patients with L-2-hydroxyglutaric aciduria, incipient headache, tinnitus, altered consciousness, and seizures can be indicative of brain tumors.

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“…First reported in 1980, and with little over 100 documented cases worldwide, L2HGA is a rare inherited metabolic condition associated with progressive brain damage and elevated levels of L-2-hydroxylate [2]. Only in 2004 was it discovered that L2HGA arises from a mutation in the L2HDGH gene, which is inherited in an autosomal recessive fashion [3], [4].…”

Section: Discussionmentioning

confidence: 99%

Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria

Kular

2020

Radiology Case Reports

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We report of a 15-year-old patient who initially presented to the specialist children's hospital with neurologic problems including developmental delay, behavioral difficulty and poor cognition. Upon organic acid testing, the patient received a diagnosis of L2-hydroxyglutaric aciduria (L2HGA).Serial MRI scans were performed throughout the patients childhood, demonstrating an evolution of imaging features as the disease progressed.A radiologist's recognition of the key findings associated with L2HGA can help prompt the diagnosis in cases of a nonspecific clinical presentation. This case report highlights the key radiological features associated with L2HGA, whilst illustrating how these changes may evolve and appear over the time course of a patient's journey.

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MRI features in 17 patients with l2 hydroxyglutaric aciduria

Cited by 25 publications

References 15 publications

Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort

Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort

L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi

Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria

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