To provide an evidence-based review of the effects of electrical stimulation (ES) in children with obstetric brachial plexus injury (OBPI).A systematic literature search and review was performed using Medline, Embase, PEDro, and manual citation searching. Studies using ES applied to the skin resulting in muscle contraction in children (0-18 years) with OBPI were included. Quality assessment was performed using the Cochrane Collaboration Risk of Bias tool and the National Institute of Health Quality Assessment Tool. Outcomes were reported as range of motion, active movement scale, Mallet grading system, and side effects.Ten studies with a total of 388 participants were included: Five randomized controlled trials, three prospective interventional studies, and two retrospective studies. In most of them, ES was combined with conventional physiotherapy. No side effects were reported, and ES was well adhered. Improvements in at least one outcome measure were reported across the included studies following ES therapy. However, substantial heterogeneity existed regarding study design, ES application protocols, and reported outcomes.ES is well tolerated in children with OBPI. It may have a positive effect as part of a rehabilitation program, especially in combination with physiotherapy.

We report a 16-year-old girl with progressive ataxia, gaze palsy, and psychotic symptoms suggestive of Niemann-Pick disease type C (NPC). Despite strong clinical and biochemical evidence, including elevated N-palmitoyl-O-phosphocholine-serine (PPCS or lysosphingomyelin-509 [lyso-SM-509]), conventional genetic testing was inconclusive. RNA sequencing of fibroblasts revealed a homozygous NPC1 intronic variant (c.3246-25A > G) causing aberrant splicing. Miglustat was initiated, leading to clinical stabilization. A systematic literature review identified 12 patients with intronic splice-altering variants located outside the canonical splice donor and acceptor regions, including variants situated more than 20 bp from exon-intron boundaries, predominantly affecting NPC1. Most patients presented with juvenile- or adult-onset disease and showed heterogeneous biomarker profiles. This case highlights the diagnostic utility of RNA sequencing in unsolved NPC cases and emphasizes its role in uncovering cryptic pathogenic variants, enabling timely diagnosis and treatment. Intronic variants should be considered in genetically elusive but clinically compatible NPC presentations.

Glucose transporter type I (Glut1) deficiency syndrome (Glut1DS) is associated with paroxysmal exertion-induced dystonia (PED). Episodes are published as brief, lasting 20 to 30 minutes. Increasingly, Glut1DS patients report prolonged PED of more than 1 hour duration. In a cohort of 60 Glut1DS patients seen in our institution within a 4-year period, a total of 26/60 patients (43%) on ketogenic dietary therapy (KDT) experienced PED. In 18/26 patients (30%), episodes lasted less than 1 hour as previously described. In 8/26 patients (13%), prolonged episodes lasted more than 1 hour up to 1 day despite adequate dietary treatment. We conclude that PED is common in Glut1DS starting in late childhood despite adequate treatment with KDT. Prolonged PED in Glut1DS occurs in a subset of patients, also unresponsive to KDT, and represents a substantial burden to patients and families.

Genetic variants in ATP7A are associated with a spectrum of X-linked copper metabolism disorders. Menkes disease (MD) is the most severe form of ATP7A-related disorders, characterized by severe central nervous system degeneration and connective tissue abnormalities. Intractable epilepsy is a hallmark of MD, typically progressing through epileptic spasms resistant to antiseizure drugs. Here, we report a severe case of MD with a novel splice variant (c.2782-3T > G) that was successfully treated with perampanel.

Developmental and epileptic encephalopathy (DEE) is extremely heterogeneous and only 30 to 50% of affected individuals receive a diagnosis upon routine genetic diagnostics. We show that genome sequencing, complemented by optical genome mapping (OGM), resolved an exome-negative case.

Neonatal stroke is a rare but potentially severe condition that may lead to long-term neurological impairment. Several factors may influence both its occurrence and outcomes.