This is the first of three exclusive PEMPix cases that will be posted online in advance of the 2019 Section on Emergency Medicine programming at the American Academy of Pediatrics National Conference and Exhibition.

This case was originally submitted by…

Nisha Polavarapu, MD

Pediatric Emergency Medicine Fellow
Rainbow Babies and Children’s Hospital
Cleveland, OH

Megan Evers, DO, MS, MSc

The Case

An 8-month-old female presents due to concerns for abnormal movements. Her father first noticed these symptoms approximately 1-2 months prior to presentation. He reports that she frequently has abnormal eye movements, will periodically turn her head from the right to left and bob up and down. He initially believed she was imitating him but has noticed that the movements have increased in frequency and occur throughout the day.

She has otherwise been in good health, gaining weight and has not been sick recently with no fevers, vomiting or diarrhea. She is however, developmentally delayed. She can transfer items from hand to hand, rolls over and babbles but is unable to sit without support or crawl on her own. Though delayed, there is no regression of milestones. 

Per history, she was born via precipitous delivery at 34 weeks and transferred to the NICU given prematurity, hypoglycemia and mild respiratory distress. She had an uncomplicated NICU course with the exception of a falsely abnormal newborn screen for elevated 17-OHP, likely due to prematurity. Maternal history significant for chlamydia and hepatitis C with toxicology positive for heroin, benzodiazepines and amphetamines. 

Patient lives at home with dad, sister and two brothers. Father is the primary caregiver. She has been lost to follow up with only one well visit and no subspecialty follow up. 

Physical Examination

T 37.1C HR 110 RR 36 BP 98/52 SpO2 98% RA Weight 6.67kg

Gen: alert, well appearing, in NAD

Head/Neck: NCAT, head slightly rotated to right and tilted to left with intermittent head bobbing

Eyes: EOMI, persistent, subtle horizontal right eye nystagmus (no changes with head rotation), red reflex present bilaterally

Ears/Nose: TMs clear, MMM, OP without erythema/lesions

Heart: RRR, no murmurs, rubs, or gallops

Lungs: CTA bilaterally, no rhonchi, rales or wheezing, no increased work of breathing

Abdomen: soft, NT, ND, no HSM, no palpable masses

Musculoskeletal: full range of motion x4 with no joint swelling or apparent injury

Skin: supernumerary nipple to the left of the xiphoid process, no other rashes or bruises noted

Neurologic: alert, symmetrical facies, moves all extremities equally, responsive to touch, normal tone and strength, strong grasp, 2+ reflexes, CNs intact with no focal deficit. The abnormal movements dad describes are seen during your examination (see video below).

Courtesy Nisha Polavarapu, MD, 2019
Courtesy Nisha Polavarapu, MD, 2019

What is the diagnosis?

A. Strabismic amblyopia

B. Cerebellitis

C. Opsoclonus myoclonus

D. Spasmus nutans

E. Congenital nystagmus