An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.

Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1 variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1 mutations and the utility of whole-exome sequencing in diagnosing mild cases of EE.

Pediatric Career Choice: Insights From a Novel, Medical School Pathway Program.

OBJECTIVE: Research on how medical students choose a career in pediatrics is either dated or conflated with primary care career choice. Capitalizing on student participation in an innovative, time-variable, competency based pathway program, Education in Pediatrics Across the Continuum (EPAC), the authors explored the process of career decision-making in students at 5 medical schools (including 4 EPAC sites) who begin medical school with an interest in pediatrics. METHODS: Individual, semistructured interviews were conducted with students in 5 groups: Group 1: accepted into EPAC, n = 8; Group 2: accepted into EPAC, opted-out, n = 4; Group 3 applied to EPAC, not accepted, pursued pediatrics, n = 4; Group 4: applied to EPAC, not accepted, did not pursue pediatrics, n = 3; Group 5: pursued pediatrics at a non-EPAC site, n = 6. Data collection and analysis occurred iteratively, with inductive coding of data revealing patterns in data explored in subsequent interviews and refined in the final analysis. RESULTS: All students described intrinsic guiding principles, that is, "doing what you love," that attracted them to pediatrics. They described extrinsic, phase-specific experiences before medical school, before clerkship, and in clerkship that shaped their perceptions of a career in pediatrics and shed light on collective values of different specialties. Student's assessment of how their guiding principles aligned with the collective values of pediatrics, which students encountered in the clerkship phase, was a key to making career decisions. CONCLUSIONS: Intrinsic and extrinsic factors do not act alone but interact in clerkships, and influence career choice of students who enter medical school with an interest in pediatrics.

Neurologic and neuroscience education: Mitigating neurophobia to mentor health care providers.

Neurologic disorders are among the most frequent causes of morbidity and mortality in the United States. Moreover, the current shortfall of neurologists is expected to worsen over the coming decade. As a consequence, many patients with neurologic disorders will be treated by physicians and primary care providers without formal neurologic training. Furthermore, a pervasive and well-described fear of neurology, termed neurophobia, has been identified in medical student cohorts, residents, and among general practitioners. In this article, members of the American Academy of Neurology A.B. Baker Section on Neurological Education review current guidelines regarding neurologic and neuroscience education, contextualize the genesis and the negative consequences of neurophobia, and provide strategies to mitigate it for purposes of mentoring future generations of health care providers.