Neuroimaging Findings of Organic Acidemias and Aminoacidopathies

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%

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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“…Neonatal onset propionic acidemia is generally nonspecific on imaging, with diffuse swelling and white matter restricted diffusion (49). Isovaleric aciduria has been reported to have bilateral posterior putaminal signal abnormalities, atrophy and delayed myelination (50); bilateral GP and mesencephalic corticospinal tract involvement (51,52); nonspecific white matter edema and microhaemorrhages (46).…”

Section: A B C D Ementioning

confidence: 99%

Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide

Biswas¹,

Malhotra

Mankad³

et al. 2021

Transl Pediatr

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Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or deficiency of an essential metabolite. Early diagnosis is crucial in many of these conditions to prevent or minimise brain damage. Whilst many of the neuroimaging features are nonspecific, certain disorders demonstrate specific patterns due to selective vulnerability of different structures to different insults. Along with clinical and biochemical profile, neuroimaging thus plays a pivotal role in differentiating metabolic disorders from other causes, in providing a differential diagnosis or suggesting a metabolic pathway derangement, and on occasion also helps make a specific diagnosis. This allows initiation of targeted metabolic and genetic work up and treatment. Familiarity with the clinical features, relevant biochemical features and neuroimaging findings of common metabolic disorders to facilitate a prompt diagnosis cannot thus be overemphasized. In this article, we describe the latest classification scheme, the clinical and biochemical clues and common radiological patterns. The diagnostic algorithm followed in daily practice after clinico-radiological phenotyping is alluded to and illustrated by clinical vignettes. Focused sections on neonatal metabolic disorders and mitochondrial disorders are also provided. The purpose of this article is to provide a brief overview and serve as a practical primer to clinical and radiological phenotypes and diagnostic aspects of IEM.

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“…Brain imaging is also variable and dependent on the timing of diagnosis and severity at presentation. 28 There is significant morbidity and mortality associated with these disorders without prompt diagnosis and dietary management. Many children will go on to have significant neurodevelopmental disabilities, including varying levels of intellectual disability, cerebral palsy, and epilepsy outside of the neonatal period.…”

Section: Organic Acidemiasmentioning

confidence: 99%

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Brimble

Ruzhnikov

2020

Semin Neurol

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Metabolic disorders represent rare but often treatable causes of seizures and epilepsy of neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to a specific diagnosis may be lacking or shrouded by acute illness. An important role of the consulting pediatric neurologist is to identify neonates with a possible metabolic or otherwise genetic diagnosis. In this review, the authors describe presenting signs and symptoms, a diagnostic framework, and disorder-specific treatment options for inborn errors of metabolism that may present in the neonatal period. Specific attention is given to the neurologic aspects of each condition, including the electroclinical phenotype and findings on brain imaging. As expedited diagnosis and prompt initiation of available therapies have been demonstrated to result in improved epilepsy and developmental outcomes, this work acts as a framework to guide evaluation when an inherited metabolic disorder is suspected. In addition to informing treatment, a definitive diagnosis allows for appropriate counseling regarding prognosis, any associated screening or preventive measures, and family planning.

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Neuroimaging Findings of Organic Acidemias and Aminoacidopathies

Cited by 46 publications

References 97 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

Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide

Metabolic Disorders Presenting with Seizures in the Neonatal Period

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