Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune neurological disorder seen in both pediatric and adult populations. CIDP typically presents with progressive and persistent weakness over at least 4 weeks in addition to sensory symptoms in the extremities. Although CIDP shares common clinical features between children and adults, it sometimes presents as a distinct clinical entity in children that requires close attention and recognition. A major caveat when diagnosing a child with CIDP is the clinical and diagnostic overlap with inherited neuropathies, most commonly Charcot-Marie-Tooth disease (CMT). Demyelinating CMT (dCMT) and CIDP might share similar clinical presentations, and sometimes it might be difficult to differentiate them on the basis of the electrodiagnostic findings or cerebrospinal fluid (CSF) albumino-cytological dissociation. This indeed merits early consideration for genetic testing in patients who do not respond to conventional CIDP therapies. Current treatment options for CIDP include intravenous immunoglobulins (IVIG), corticosteroids (CS), and plasmapheresis (PLEX). The need for novel therapies is essential in instances where patients continue to have symptoms despite the standard therapies or due to adverse effects of long-term use of standard therapies such as CS. This paper reviews the challenges in the diagnosis of CIDP in children and the current as well as novel therapies for CIDP.

Health related quality of life in a Saudi population of patients with epilepsy.

OBJECTIVES: To assess the quality of life for epilepsy patients in Saudi Arabia. Epilepsy, one of the most prevalent chronic neurological conditions in the world, frequently results in a low quality of life. METHODS: This cross-sectional study analyzed data between September 2020 and September 2021 from 102 adult patients with epilepsy in outpatient clinics department of Epilepsy Program at King Fahad Medical City compared it to 108 healthy controls during the same study period. Sociodemographics and clinical data were gathered using the Arabic version of the Rand 36-Item Short Form Survey (SF-36) questionnaire and the Quality of Life in Epilepsy Inventory (QOLIE-31). RESULTS: Patients with epilepsy had lower SF-36 scores when compared to the control for role limitation due to physical health, role limitations due to emotional health, and general health. The QOLIE-31 revealed that gender was associated with energy/fatigue (p=0.028), medication effect (p=0.016), and social function (p=0.003); only social functioning showed a significant association (p=0.023) with employment. CONCLUSION: Quality of life for patients with epilepsy was found to be significantly impacted in Saudi Arabia. Certain factors found in this study differentiate it from data that has already been released. This might be due to Arab differences in family support as well as cultural and religious beliefs.

Sleep quality, daytime sleepiness, and insomnia in patient with epilepsy: A single center experience from Saudi Arabia.

OBJECTIVES: To measure the burden of insomnia and daytime sleepiness (DTS) and their effects on sleep quality, and the risk factors of poor quality of sleep. METHODS: We conducted a cross-sectional study of 218 epilepsy patients. We administered well-validated and previously translated questionnaires to assess sleep quality, insomnia, and DTS using the Pittsburgh Sleep Quality Index, Insomnia Severity Index, and Epworth Sleepiness Scale, respectively. RESULTS: Approximately 75% of participants reported poor sleep quality. Moreover, 42.2% did not have insomnia, while 37.6%, 17.9%, and 2.3% had subthreshold insomnia and clinical insomnia of moderate and severe severity, respectively. Roughly 64.2% of participants had normal sleep, 17.8% had an average amount of DTS, and 16.9% and 0.9% may and should seek medical attention, respectively. Compared to normal sleepers, patients with clinical insomnia were 5.45 times likely to experience poor sleep quality, whereas patients with an average amount of DTS and who were recommended to seek medical attention were 6.84 and 44.15 times likely to experience poor sleep quality, respectively. Patients who had seizures every month were 2.51 times likely to experience poor quality sleep, compared to patients who had seizures annually. CONCLUSION: We found a higher prevalence of poor quality of sleep, insomnia, and excessive DTS in our sample of Saudi epilepsy patients.

Seizure-related injuries in people with epilepsy: A cohort study from Saudi Arabia.

OBJECTIVES: Patients with epilepsy have a high risk of accidents and injuries, resulting in minimized physical activity and social withdrawal. Therefore, we surveyed the prevalence and the types of injuries that patients with epilepsy may endure, and the factors that may increase the risk of injuries. METHODS: In this cohort study, adult and pediatric patients diagnosed with epilepsy (age ≥ 7 years) and a close family member (parents/guardian) attending the outpatient epilepsy clinics at King Fahd Medical City (Riyadh, Saudi Arabia) were interviewed by neurologists. They reviewed the patients' medical records and administered a structured questionnaire to identify and compare several variables, including injury frequency versus seizure type and seizure frequency, number of antiseizure medications used, medication compliance, and work and social limitations. RESULTS: Out of 200 patients, 86 (43%) sustained injuries during an attack of their habitual seizures. Almost half of this group showed a tendency for recurrent injuries. The most common traumas were soft tissue injury (36.5%), head injury (32%), dental injury (8.5%), burns (7%), dislocation (7%), fractures (6.5%), and submersion (2%). Two-thirds of the patients had their injury at home. 64% of patients who had seizures for more than 10 years sustained multiple injuries (P = .003). Injury frequency was higher among patients with daily or monthly seizures (P = .03). 76% of patients who suffered injuries more than twice had generalised tonic-clonic seizures, and genetic generalised epilepsy was encountered more in injured patients (P = .02). Also, patients on polytherapy were more likely than those on monotherapy to have an injury (P = .003). SIGNIFICANCE: Two-fifths of the patients reported seizure-related injuries. The most common were soft-tissue injuries and head traumas, while homes were the most frequent site. In addition, longer epilepsy duration, generalized tonic-clonic seizures, and polytherapy were associated with a higher prevalence of injuries. Therefore, injury prevention strategies should be developed for PWE, especially for those at higher risk.

Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia.

Background: Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing encephalopathy characterized by fever, depressed level of consciousness, and seizures. Diagnosis depends on clinical presentation and characteristic neuroimaging findings of abnormal signal intensity involving the thalami as well as the supra and infra-tentorial areas. Treatment modalities are not well-established; empirical treatment with antibiotics and antiviral agents is the initial step, followed by steroids and immunoglobulin, as well as supportive care. Patients with ANEC have a variable prognosis, but mortality is very high. Methods: A retrospective chart review of patients diagnosed with ANEC in five tertiary centers from January 2015 to October 2018 was performed. Clinical and radiological findings, as well as the therapeutic approach and outcomes, were described. Results: Twelve children were included ranging in age from 10 months to 6 years. All patients presented with preceding febrile illness, altered level of consciousness, and seizure. Radiological features showed abnormal signals in the thalami, and five patients (41.7%) had brainstem involvement. All patients received empirical treatment with antibiotics and antiviral agents. Ten patients (83.3%) received intravenous immunoglobulin (IVIG) and IV Methylprednisolone therapy. Outcomes were variable ranging from good outcomes with minimal neurological deficits to poor outcomes and death in 25% of cases. Conclusion: ANEC is a rare fulminant disease in children. The treatment is challenging. Early interventions with the use of IVIG and IV Methylprednisolone may change the outcome; however, further studies are needed to establish a consensus guideline for the management.

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

BACKGROUND: Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability. CASE DESCRIPTION: In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala). CONCLUSION: This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy.