The ABCDs of CMV (P12-9.010)

Abstract

<h3>Objective:</h3> We describe a patient who presented with developmental delay and magnetic resonance imaging (MRI) findings concerning for leukodystrophy with serological evidence of prior cytomegalovirus (CMV) infection. <h3>Background:</h3> Congenital CMV has myriad of presentations that can mimic other pathologies but testing for CMV has a limited time frame. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> A three-year old female born at 39 weeks presented to the clinic with developmental delay, abnormal gait, and abnormal brain MRI. At her initial presentation, her height and weight were less than fifth percentile and head circumference was less than second percentile. She had a history of gross motor delay and fine motor delay, with normal language and social skills. On exam, she had bilateral lower extremity hyperreflexia, clonus and was unable to walk without using a gait trainer. Her initial MRI brain without contrast showed areas of polymicrogyria and multiple scattered asymmetric T2/FLAIR hyperintensities in the bilateral supratentorial deep and subcortical white matter. Due to hyperintensities that were confined to the white matter, these findings were concerning for leukodystrophy. Genetic testing included leukodystrophy panel that revealed multiple variants of unknown significance but no pathological abnormalities. Trio-whole exome sequencing and chromosomal microarray did not reveal any abnormalities. MRI brain repeated after six months did not reveal new abnormalities and a first-time brain MR-spectroscopy was unremarkable. CMV testing was IgG positive and IgM negative. At 3-month follow-up, she did not show signs of regression, was gaining milestones and her neurological exam remained unchanged. Although her diagnosis remains unclear, if the CMV infection was congenital or postnatal, clinical history at the time was reassuring. <h3>Conclusions:</h3> CMV infection can be a mimicker of leukodystrophy. CMV infection must be included in the differential diagnosis and tested for when white matter changes are seen on imaging. <b>Disclosure:</b> Dr. Sudheendra has nothing to disclose. The institution of Dr. Campbell has received research support from NIH (F30EY026792). Dr. Holder has received personal compensation in the range of $0-$499 for serving as a Consultant with Stoke Pharmaceutical. Dr. Emrick has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Arkema. The institution of Dr. Emrick has received research support from Lysogene. The institution of Dr. Emrick has received research support from PTC. The institution of Dr. Emrick has received research support from Roche. The institution of Dr. Emrick has received research support from NIH.