Skill Checkup: A 6-Month-Old Boy With History of Seizure-like Episodes, Dystonia, and Ongoing Nasal Congestion

Germaine L. Defendi, MD


January 31, 2022

The Skill Checkup series provides a quick, case-style interactive quiz highlighting key guidelines- and evidence-based information to inform clinical practice.

A 6-month-old boy of Taiwanese descent has history of seizure-like episodes, dystonia, and ongoing nasal congestion. His caregivers report feeding and sleeping difficulties as well as irritability with increased startle to noises and sudden movements. The infant had been diagnosed with cerebral palsy; however, the caregivers are requesting a second opinion.

At presentation, the infant weighs 6.1 kg (13.4 lb; < 2%), is 57.2 cm long (22.5 in; < 2%), and is afebrile. Marked developmental delay is noted, as the patient has not reached any age-appropriate milestones. Physical exam is notable for bilateral ptosis, right-sided head deviation, and truncal muscular hypotonia. You observe sustained upward deviation of the eyes with backward neck flexion. Hypersalivation and tongue thrusting are seen.


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