Purpose or Case Report: Brainstem anomalies pose a diagnostic challenge for trainees to even the most advanced in their practice. Our exhibit aims to provide a comprehensive review of these rare disorders which are being diagnosed earlier and more frequently utilizing advanced imaging and genetic sequencing techniques. Representative images of these disorders with key distinguishing features will be presented. Familiarity with these conditions will benefit practicing radiologists, radiologists in training, and our clinical colleagues. Methods & Materials: A diagnostic imaging approach to brainstem anomalies using high quality representative images with emphasis on MRI, including fetal MRI, will be presented. Results: 1) Review the appropriate stages of brainstem development.
2) Highlight a number of cases demonstrating brainstem anomalies including tubulinopathies, dystroglycanopathies, ciliopathies, cri-du-chat syndrome, pontocerebellar hypoplasia, Aicardi-Goutieres syndrome, patterning defects, pontine tegmental cap dysplasia and other rare disorders.
3) Provide key distinguishing imaging features for these malformations. Conclusions: This review aims at familiarizing radiologists with complex and challenging cases of brainstem maldevelopment from in-utero to post-natal presentation. Early and accurate diagnosis are key to meaningful outcomes and future planning. It is important for neuroradiologists and pediatric radiologists alike to retain a wide range of differential diagnoses thus providing diagnostic confidence when potential future cases are encountered.
Creeden, Sean
( Stanford University
, Stanford
, California
, United States
)
Dahmoush, Hisham
( Stanford University
, Stanford
, California
, United States
)
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