Objective: We review the clinical spectrum of infants diagnosed with Fejerman syndrome, provide detailed phenomenology through video review and long-term outcomes

Background: First described by Natalio Fejerman in 1976, Fejerman syndrome involves movements resembling infantile spasms but with normal EEG. Initially termed benign nonepileptic infantile spasms, it primarily included benign myoclonus of early infancy and later expanded to shuddering attacks. Given recent findings that providers struggle to identify infantile spasms’ broad presentations, its non-epileptic mimic likely shares this variability.

Method: A retrospective chart review (2018–2024) identified patients diagnosed with Fejerman syndrome. We analyzed medical history, clinical notes, demographics, and continuous video EEG recordings.

Results: We identified 94 infants (43% male) who were diagnosed with Fejerman syndrome after at least one continuous video EEG study.  Symptom onset was at 6 ± 3.8 months, with complete resolution by 15 ± 9.8 months (average duration: 8.1 ± 7.1 months). Most (59%) were full-term with unremarkable histories; 6.5% were late preterm, and 7.5% were premature. Developmental concerns were noted in 9.6%. Movements were symmetric in 62.4%, primarily involving proximal upper extremities (59.1%) and head/neck (41.9%). Upon further review, 29% met criteria for benign myoclonus of infancy, 5.4% had benign sleep myoclonus, and 15.1% had developmental stereotypies. Other diagnoses included Sandifer syndrome (7.5%), excessive startle (5.4%), tremor (3.2%), shuddering attacks (9.7%), transient idiopathic dystonia of infancy (3.2%), and self-gratification phenomena (2.2%). One patient was later diagnosed with Tourette syndrome, with tics resembling their resolved infantile movements.

Conclusion: Our study suggests that although Fejerman syndrome has classically been associated with benign myoclonus of infancy as well as shuddering attacks, the spectrum of phenomenology is broad. It generally represents benign infantile movements but may persist into childhood in some cases

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-clinical-spectrum-of-fejerman-syndrome-insights-from-video-eeg-and-long-term-follow-up/