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Combining responsive neurostimulation with resection or ablation for treatment of epilepsy: a multicenter experience

PubMed - functional seizures Published 16 Oct 2026 Relevancy: 36%

CONCLUSIONS: Combined RNS with resection or ablation might provide meaningful seizure control in complex drug-resistant epilepsy with acceptable safety profiles. These findings describe current practice and support further investigation of hybrid surgical strategies in patients with challenging seizure networks as a potential treatment strategy.

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Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort

PubMed - diagnostic errors AND neurology Published 15 Oct 2026 Relevancy: 68%

CONCLUSION: Favorable neurodevelopmental outcomes in patients with GAMT deficiency treated before symptom onset underscore the importance of clinical awareness and timely diagnosis, and support the rationale for newborn screening. The two novel disease-causing variants expand the genetic spectrum of CCDS.

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Case Report: Bilateral pes planovalgus: an uncommon pediatric orthopedic presentation of Charcot-Marie-Tooth disease type 4B1

PubMed - neurological misdiagnosis Published 15 Oct 2026 Relevancy: 70%

Charcot-Marie-Tooth (CMT) disease is an inherited motor and sensory neuropathy that typically presents with cavovarus foot deformity. Pes planovalgus is uncommon in CMT and, while noted incidentally in multicenter cohort studies of CMT4B subtypes, has not been described as the predominant orthopedic manifestation in a published case report of genetically confirmed CMT4B1. We report the case of a 7-year-old girl who presented with progressive painful bilateral pes planovalgus, hallux valgus,...

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The Effects of Age on the Presence of Atypical Corneal Nerve Formations

PubMed - small fiber neuropathy Published 14 Oct 2026 Relevancy: 46%

CONCLUSIONS: Corneal ANFs seem to be strongly associated with aging, suggesting that they may represent age-related degenerative remodeling rather than specific biomarkers for ocular neuropathic pain or inflammation in this population and, as such, should be interpreted with caution and within the broader clinical context.

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Hypoinsulinemic hypoglycemia with hemihypertrophy in a Filipino infant: management in a resource-limited setting

PubMed - neurological misdiagnosis Published 14 Oct 2026 Relevancy: 40%

Persistent infantile hypoglycemia is a medical emergency associated with significant risk of neurological injury. Although most commonly attributed to congenital hyperinsulinism, disorders of impaired insulin signaling with hypoketotic hypoglycemia despite low or undetectable insulin occur in fewer than 1 in 1 000 000 infants worldwide, leading to misdiagnosis and ineffective therapy. We report a Filipino infant with recurrent fasting hypoglycemic seizures and hemihypertrophy. Biochemical...

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Progressive Pseudorheumatoid Dysplasia Presenting with Cauda Equina Compression: A Case Report

PubMed - neurological misdiagnosis Published 14 Oct 2026 Relevancy: 83%

Background Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia frequently misdiagnosed as juvenile idiopathic arthritis because of overlapping clinical features. Case presentation We report a 21-year-old man who presented with bilateral leg pain and acute progressive lower-limb weakness associated with gait disturbance. Clinical examination revealed asymmetric motor weakness, absent knee and ankle reflexes, and preserved bowel and bladder function....

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