Rationale:
DiGeorge syndrome (DGS) is associated with an increased likelihood of developing neuropsychiatric disorders, though data are limited.
1-4 With an estimated prevalence of 1 in 1000 to 1 in 4000 pregnancies, DGS is the most common of the microdeletion syndromes worldwide, and so has become a model for the study of other rare developmental disorders.
1,5,6 Despite the prevalence of DGS, few cases of PNES in DGS exist in the literature.
1,5 Herein, we discuss a case of new psychogenic nonepileptic seizure diagnosis in a 20-year-old female with DiGeorge syndrome.
Methods:
Case Description:
A 20-year-old female with DGS was admitted for an acute asthma exacerbation. Despite lack of significant electrolyte derangement, recent infection, or pertinent home medications on admission, the patient’s hospital course was complicated by suspected seizure activity.
Other comorbidities identified were microcephaly, developmental delay, communication disorders, hearing loss, conotruncal abnormality, congenital velopharyngeal insufficiency, craniosynostosis, anxiety, and depression. DGS was confirmed on whole genome SNP microarray at age 12.
While admitted, the patient experienced episodic numbness, weakness, and paresthesias of the upper and lower extremities with alternating lateralization, decreased alertness, and eye-rolling, during which visual tracking was intact and the patient responded to questions and followed commands. Episodes frequently occurred with family at the bedside and would resolve without antiepileptic medications. Prior similar episodes reported at home in times of duress. Continuous video EEG was obtained outpatient (Figure 1) and did not show epileptiform discharges.
Results: N/A
Conclusions:
PNES are common yet poorly understood. As a dissociative phenomenon, PNES likely reflect learned behavior and disruptions of cognitive control as a defense mechanism or stress response.8 Believed to represent sudden changes in consciousness, movement, and behavior, PNES present clinically similarly to epileptic seizure (ES), though notably lack the same neurobiological origin and epileptiform activity on EEG. This has led to frequent misdiagnosis and treatment delay of PNES.9,10
Along with history and clinician observations, ictal and interictal video EEG without epileptiform activity is the preferred method for PNES diagnosis. Unfortunately, the absence of epileptiform activity on video EEG does not always indicate a lack of ES, as normal EEGs can be seen in patients with certain ES subtypes. Additionally, recent data highlight the overlap of clinical features previously considered pathognomonic for PNES with those of ES.
While standardized definitions of PNES aid diagnosis, PNES largely remain a diagnosis of exclusion, one which is further complicated in patients with DGS.
11 It must be considered whether current diagnostic methods for PNES are similarly valid in the DGS population as compared to the general population, particularly in individuals with intellectual disability or those who use only nonverbal means of communication. We conclude that further characterization of PNES in DGS is needed in order to improve diagnosis, treatment, and outcomes.
Funding: No funding to disclose.