Annals of the Child Neurology Society最新文献

Diagnosis and treatment of Sturge–Weber syndrome (SWS) brain involvement in infants born with a port-wine birthmark who are at risk of seizures requires close neurological monitoring [1, 2]. In 90% of patients with SWS brain involvement, seizures will occur before 2 years of age [2]. Early seizures in patients with SWS are typically focal or partial, prolonged, and often associated with tachycardia. Less commonly, they may present with bradycardia and desaturations, which are often not detectable on seizure-specific devices [3]. There has been a notable increase in parents using infant monitoring devices (IMDs) in the Hunter Nelson Sturge–Weber Center. The present study analyzed parental experience using commercially available IMDs and assessed whether these devices may be useful for detecting clinically diagnosed seizures in patients with SWS.

We sent a clinical questionnaire developed in Qualtrics via a secure email link to parents of patients < 5 y of age diagnosed or at risk for SWS and seen between August 31, 2021, and August 31, 2024 (N = 118) at Kennedy Krieger (KK). Twenty-two research-consented patients responded to the questionnaire. We shared the questionnaire with the Vascular Birthmarks Foundation (VBF), who posted it on SurveyMonkey on Facebook pages between February 7, 2025, and April 21, 2025 (N = 37 respondents). See Figures S1a,b for questionnaire and Tables S1a–S2b for demographic information and SWS characteristics.

While the data from the clinical site came from a closely followed patient population, the data from the advocacy site came from participants without a well-characterized clinical presentation. In addition, it is not certain whether the two groups could have generated multiple responses from the same individuals. Each site yielded the same conclusions, supporting broader generalization.

Parents reported having an overall positive experience using an IMD. See Figure S4 for the combined parental Likert scale data. This initial study supports the use of IMDs to aid in decreasing anxiety in parents of infants with SWS brain involvement and epilepsy, and the need for future research, including larger and more diverse sample sizes and retrospective and prospective studies, to determine if the use of IMDs in these patients can detect epileptic seizures.

Katharine E. Joslyn: writing – original draft, writing–review and editing, data visualization. Ashley N. Eisenberg and Veronica M. Lee: data curation, writing–review and editing. Linda Rozell-Shannon: conceptualization, data curation, writing–review and editing. Anne M. Comi: conceptualization, supervision, writing–review and editing.

A.M.C. is an editorial board member of ACNS. The other authors declare no conflicts of interest.

This teenaged girl with a Chiari malformation type III that was diagnosed and surgically repaired at birth presented with an 8-year history of involuntary movements of the left arm during right-handed tasks (Video 1). These mirrored movements interfered with fine motor skills such as writing, grooming, and dressing. She denied visual changes, nausea, vomiting, or developmental regression. Her neurological examination revealed involuntary left-hand movements during right-hand activity (Video 1), decreased vibratory sensation in her arms and legs, and impaired tandem gait. Magnetic resonance imaging showed a repaired occipital encephalocele, severe untreated ventriculomegaly, and a syrinx extending from C4 to L1 (Figure 1).

Mirror movements are involuntary movements that replicate voluntary actions of the contralateral limb and are most often seen in the arms [1]. They represent a type of motor overflow and are considered pathologic when persistent beyond early childhood [2]. Proposed mechanisms include aberrant ipsilateral corticospinal projections, where motor fibers fail to decussate, as well as impaired interhemispheric inhibition, resulting in bilateral cortical activation during unimanual movement [3]. These abnormalities may reflect incomplete development of corticospinal and callosal pathways. Mirror movements are recognized in congenital and midline disorders such as Kallmann and Klippel–Feil syndromes [1, 3, 4] but are rarely reported in association with Chiari malformation type III. This patient underscores the importance of a detailed neurological examination in individuals with congenital hindbrain anomalies and highlights how structural disruption of motor systems may manifest as clinically observable motor overflow.

Aysha Arshad: writing – original draft, writing – review and editing, visualization. John R. Crawford: supervision, writing – review and editing, conceptualization, visualization.

Written consent was obtained from the parent and patient before submission.

John R. Crawford, MD, MS, serves as an associate editor of Annals of the Child Neurology Society.