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MR Neuroimaging in Pediatric Inborn Errors of Metabolism
Lillian M Lai1,2, Andrea L Gropman3, Matthew T Whitehead4
1Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.
Insights
Inborn errors of metabolism (IEMs) are rare but serious, often affecting the brain. Magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (¹H MRS) can help diagnose these disorders early when clinical signs are unclear.
Area of Science:
- Biochemistry
- Neurology
- Radiology
Background:
- Inborn errors of metabolism (IEMs) are genetic disorders impacting metabolic pathways.
- These disorders can lead to significant illness and death if not diagnosed promptly.
- While individually rare, IEMs collectively represent a substantial burden of neonatal and infantile central nervous system disorders.
Purpose of the Study:
- To review the utility of magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (¹H MRS) in diagnosing IEMs.
- To highlight specific neuroimaging patterns indicative of IEMs.
- To demonstrate how MRI and ¹H MRS can guide or refute IEM diagnoses.
Main Methods:
- Review of existing literature on MRI and ¹H MRS in IEM evaluation.
- Analysis of neuroimaging findings in various IEMs.
- Discussion of diagnostic and exclusionary roles of MRI and ¹H MRS.
Main Results:
- Neuroimaging, particularly MRI and ¹H MRS, plays a crucial role in IEM diagnosis.
- Specific imaging patterns can suggest or confirm IEMs, sometimes preceding biochemical or genetic results.
- MRI and ¹H MRS can effectively rule out IEMs in certain clinical scenarios.
Conclusions:
- MRI and ¹H MRS are indispensable tools in the diagnostic work-up of suspected IEMs.
- Early recognition of neuroimaging findings can lead to timely diagnosis and intervention for IEMs.
- These advanced imaging techniques enhance diagnostic accuracy and management strategies for IEMs.
Abstract:
Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early. While individually rare, the estimated global prevalence of IEMs comprises a substantial number of neonatal and infantile disorders affecting the central nervous system. Clinical manifestations of IEMs may be nonspecific. Newborn metabolic screens do not capture all IEMs, and likewise, genetic testing may not always detect pathogenic variants. Neuroimaging is a critical component of the work-up, given that imaging sometimes occurs before prenatal screen results are available, which may allow for recognition of imaging patterns that lead to early diagnosis and treatment of IEMs. This review will demonstrate the role of magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) in the evaluation of IEMs. The focus will be on scenarios where MRI and 1H MRS are suggestive of or diagnostic for IEMs, or alternatively, refute the diagnosis.
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