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Akron Children's > For Healthcare Professionals > Providers > Continuing Professional Development

Grand Rounds: Chasing Zebras: Finding the Path in Serendipity, Mentorship, and Rare Disease

03-20-2026

By Andrea L. Gropman, MD, FAAP, FACMG, FANA, FAAN, FCNS , Director, Neurometabolic Translational Research, St. Jude Children's Research Hospital

Objectives (Educational Content) :

1. Describe the fundamental principles of MR spectroscopy and how metabolic signatures can be used to identify inborn errors and other neurological disorders.

2. Recognize characteristic MR spectroscopy patterns associated with key metabolic derangements and apply these findings to clinical diagnosis.

3. Integrate MR spectroscopy data with clinical and conventional neuroimaging findings to improve diagnostic accuracy and guide patient management.

Target Audience:

General pediatricians, family physicians, nurse practitioners, physician assistants, social workers, psychologists, and nurses.

Identified Gap:

Clinicians often lack sufficient familiarity with the principles and clinical utility of MR spectroscopy, including how metabolic signatures help identify inborn errors of metabolism and other neurological disorders. Gaps also persist in recognizing characteristic spectroscopic patterns and effectively integrating these findings with clinical assessments and conventional neuroimaging, which can hinder accurate and timely diagnosis—particularly in rare diseases. This activity aims to close these gaps by strengthening understanding of MR spectroscopy fundamentals, improving pattern recognition skills, and enhancing the ability to synthesize spectroscopic data with broader clinical information to guide patient management.

Estimated Time to Complete the Educational Activity:

1 hour(s)

Expiration Date for CE/CME Credit:

03-19-2027

Method of Participation in the Learning Process:

The learner will view the presentation, successfully complete a post-test and complete an activity evaluation.

Evaluation Methods:

All learners must successfully complete a post-test, as well as an activity evaluation, to claim CE/CME credit.

Disclosure:

The speaker has returned the disclosure form, indicating that the following financial relationships with ineligible companies: Baylor Miraca and Immedica (relationship ended) - Andrea Gropman, MD. All financial relationships have been mitigated. The following CME Committee/Planning Committee member(s) has the following financial relationships with ineligible companies to disclose: Merck - Maria Cristina Victorio, MD. All financial relationships have been mitigated.

Accreditation Statement:

Children’s Hospital Medical Center of Akron is accredited by the Ohio State Medical Association to provide continuing medical education for physicians.

CHMCA designates this enduring material activity for a maximum of 1.0 AMA PRA Category 1 Credit TM.  Physicians should only claim the credit commensurate with the extent of their participation in the activity.

Bibliography:

 1. Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. PMID: 18662894; PMCID: PMC3724938.

2. Sen K, Castillo Pinto C, Gropman AL. Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency. J Pediatr Genet. 2021 Mar;10(1):77-80. doi: 10.1055/s-0040-1709670. Epub 2020 Apr 23. PMID: 33552645; PMCID: PMC7853912.

3. Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ; Members of the Urea Cycle Disorders Consortium (UCDC); Gropman AL, Bedoyan JK. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. PMID: 38634223; PMCID: PMC11024633.

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