Browsing by Author "Moeller, Ashley A."

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    Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review
    (SAGE, 2021-01-01) Moeller, Ashley A.; Felker, Marcia V.; Brault, Jennifer A.; Duncan, Laura C.; Hamid, Rizwan; Golomb, Meredith R.; Neurology, School of Medicine
    Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.
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    Schwannoma-associated third nerve palsy: A pediatric case report
    (Elsevier, 2022-03-30) Moeller, Ashley A.; Sokol, Louis A.; Ho, Chang Y.; Neurology, School of Medicine
    Acquired third nerve palsies are infrequently seen in children, but are often associated with serious pathologies. This article presents a pediatric case of tumor-associated, isolated third nerve palsy, which took two years to diagnose. The patient initially presented with an isolated, dilated pupil and progressed over several months to a complete third nerve palsy. In this case, high-resolution neuroimaging eventually led to the diagnosis of a presumed schwannoma as the cause of her third nerve palsy. We review her case, the importance of high-resolution imaging, and management options.