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- Gabriel Paris, MS DO*
- Nicholas L. Friedman, DO*
- Jacob S. Hogue, MD*
- *Madigan Army Medical Center, Tacoma, WA
AUTHOR DISCLOSURE
Drs Paris, Friedman, and Hogue have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device. The views expressed in this manuscript are those of the authors and do not necessarily reflect those of the Department of the Army, the Department of Defense, or the US Government.
Presentation
A previously healthy 3-month-old boy presents to the emergency department with a chief complaint of choking episodes with perioral cyanosis. The episodes started 4 weeks before and are increasing in frequency. During the episodes, his parents note rapid eye twitching, facial twitching, and a fine tremor in the extremities. He would appear to be choking with breath holding and cyanosis around the mouth. Some of the episodes are also accompanied by emesis. Many of the episodes occurred after feeding, so he was switched from breastfeeding to formula. Over the past month, parents have also noted a progressive decline in movement, head control, visual tracking, and increased sleepiness. Previously, he had been able to push his head and chest off a flat surface while prone and could roll from back to front but lost these skills. He also has regression in visual tracking, focusing on faces, and spontaneously smiling.
He was born at 40 3/7 weeks’ estimated gestational age via spontaneous vaginal delivery to a gravida 3, para 3, mother without pregnancy or delivery complications. Maternal blood type was O+, and infant was A+ with direct antiglobulin test negative. Maternal laboratory studies were as follows: human immunodeficiency virus negative, hepatitis B surface antigen negative, Rubella immune, group B Streptococcus negative, and rapid plasma reagin negative. Newborn metabolic screen and hearing screen were normal. Family history is significant for a maternal uncle with Pelizaeus-Merzbacher disease (PMD). The details of the …
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