The management of patients with new epileptic seizures in the early period after resection of hemispheric tumors: two case reports and a literature review

2017 ◽  
Vol 81 (5) ◽  
pp. 96 ◽  
Author(s):  
E. Yu. Sokolova ◽  
I. A. Savin ◽  
A. B. Kadasheva ◽  
A. V. Gavryushin ◽  
D. I. Pitskhelauri ◽  
...  
2021 ◽  
Author(s):  
Piero Pavone ◽  
Xena Giada Pappalardo ◽  
Naira Mustafa ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
...  

Abstract BACKGROUND Alternating Hemiplegia of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months, recurrent hemiplegia of one or either sides of the body or quadriplegia. Neurological comorbidities observed in two couples of AHC affected children are here reported together with data drawn by literature review. Results of genetic analysis obtained in the probands are also discussed. Developmental delay, epilepsy, tonic or dystonic spells, nystagmus and autonomic manifestations are frequently reported. AHC is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene.CASE PRESENTATION Clinical and genetic findings of a couple of twins and a couple of siblings affected by AHC from two different Italian families were deeply examined. Intrafamilial clinical variability was shown in the present cases. A pathogenic variant rs606231437 in ATP1A3 gene was detected in twins. For the affected siblings of family 2, the genetic results showed that the older brother and the healthy father shared a novel variant of GRIN2A (c.3175T>A) gene, and two missense mutations in SCNIB (rs150721582) and KCNQ2 (rs771211103) genes. In the younger brother was found only the GRIN2A variant.CONCLUSIONS Developmental delay, epileptic seizures and motor dysfunction are features frequently associated to paroxysmal hemiplegic attacks. Hemiplegic episode is only a sign even if the most remarkable of several neurological comorbidities in AHC carriers. The comparison of molecular analysis among the four probands brings out how the genetic framework is not recurrent, but may result from an unexpected greater genetic heterogeneity.


BJPsych Open ◽  
2017 ◽  
Vol 3 (5) ◽  
pp. 249-253 ◽  
Author(s):  
Kenneth R. Kaufman ◽  
Melissa Coluccio ◽  
Kartik Sivaraaman ◽  
Miriam Campeas

BackgroundOptimal anti-epileptic drug (AED) treatment maximises therapeutic response and minimises adverse effects (AEs). Key to therapeutic AED treatment is adherence. Non-adherence is often related to severity of AEs. Frequently, patients do not spontaneously report, and clinicians do not specifically query, critical AEs that lead to non-adherence, including sexual dysfunction. Sexual dysfunction prevalence in patients with epilepsy ranges from 40 to 70%, often related to AEDs, epilepsy or mood states. This case reports lamotrigine-induced sexual dysfunction leading to periodic non-adherence.AimsTo report lamotrigine-induced sexual dysfunction leading to periodic lamotrigine non-adherence in the context of multiple comorbidities and concurrent antidepressant and antihypertensive pharmacotherapy.MethodCase analysis with PubMed literature review.ResultsA 56-year-old male patient with major depression, panic disorder without agoraphobia and post-traumatic stress disorder was well-controlled with escitalopram 20 mg bid, mirtazapine 22.5 mg qhs and alprazolam 1 mg tid prn. Comorbid conditions included complex partial seizures, psychogenic non-epileptic seizures (PNES), hypertension, gastroesophageal reflux disease and hydrocephalus with patent ventriculoperitoneal shunt that were effectively treated with lamotrigine 100 mg tid, enalapril 20 mg qam and lansoprazole 30 mg qam. He acknowledged non-adherence with lamotrigine secondary to sexual dysfunction. With lamotrigine 300 mg total daily dose, he described no libido with impotence/anejaculation/anorgasmia. When off lamotrigine for 48 h, he described becoming libidinous with decreased erectile dysfunction but persistent anejaculation/anorgasmia. When off lamotrigine for 72 h to maximise sexual functioning, he developed auras. Family confirmed patient's consistent monthly non-adherence for 2–3 days during the past year.ConclusionsSexual dysfunction is a key AE leading to AED non-adherence. This case describes dose-dependent lamotrigine-induced sexual dysfunction with episodic non-adherence for 12 months. Patient/clinician education regarding AED-induced sexual dysfunction is warranted as are routine sexual histories to ensure adherence.


Lupus ◽  
2020 ◽  
pp. 096120332096570
Author(s):  
Juliana P Ocanha-Xavier ◽  
Camila O Cola-Senra ◽  
Jose Candido C Xavier-Junior

Reticular erythematous mucinosis (REM) was first described 50 years ago, but only around 100 case reports in English have been published. Its relation with other inflammatory skin disorders is still being debated. We report a case of REM, including the clinical and histopathological findings. Also, a systematic review of 94 English-language reported cases is provided. The described criteria for clinical and histopathological diagnosis are highlighted in order to REM can be confidently diagnosed.


2021 ◽  
Vol 3 ◽  
pp. 100071
Author(s):  
Vanesa Rodríguez-Fernández ◽  
Lucía Cameselle-Cortizo ◽  
María José Lamas González ◽  
Gonzalo José De Castro Parga ◽  
Javier Valdés-Pons ◽  
...  

Author(s):  
Xuefeng Wei ◽  
Xu Zhang ◽  
Zimu Song ◽  
Feng Wang

Abstract Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.


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