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Epilepsia Open Jun 2024To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021...
OBJECTIVE
To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques.
METHODS
We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome. Univariate analysis was performed to assess the risk of post-operative seizures, categorized in dichotomous variable as favorable and unfavorable; explanatory variables were considered. Mann-Whitney or Chi-squared test were used to assess the presence of an association between variables (p < 0.05).
RESULTS
Full presurgical and postoperative data about 42 patients from 6 epilepsy surgery centers were gathered. Engel class I was reached in the 65.8% and 66.6% of patients with gelastic and non-gelastic seizures, respectively. Other than daily non-gelastic seizures were associated with seizure freedom (p = 0.01), and the radiological type presented a trend toward significance (p = 0.12).
SIGNIFICANCE
Endoscopic disconnection and laser interstitial thermal therapy are effective in the treatment of HH-related epilepsy, with a tolerable safety profile. Both gelastic and non-gelastic seizures can be treated, also in patients with a long history of seizures.
PLAIN LANGUAGE SUMMARY
This study collected data about 42 patients with HH-related epilepsies. Endoscopic disconnection and laser therapy are both effective and safe in the treatment of hypothalamic hamartoma-related epilepsies.
PubMed: 38926936
DOI: 10.1002/epi4.12989 -
BMC Pediatrics Jun 2024Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin... (Review)
Review
BACKGROUND
Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system. However, serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns either. The featured imaging manifestations play an important role in diagnosing Menkes disease. To our knowledge, there are few reports on the systemic imaging manifestations of Menkes disease.
CASE PRESENTATION
A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient's hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital.
CONCLUSION
A comprehensive and intuitive understanding of the disease's imaging manifestations can help clinicians to identify the disease and avoid delays in care.
Topics: Humans; Menkes Kinky Hair Syndrome; Male; Infant; Magnetic Resonance Imaging; Brain; Whole Body Imaging; Bone and Bones
PubMed: 38926644
DOI: 10.1186/s12887-024-04885-x -
Epilepsia Open Jun 2024Perampanel belongs to a novel class of antiseizure medications (ASMs). Studies examining the effect of hemodialysis on perampanel serum levels in clinical settings are...
Perampanel belongs to a novel class of antiseizure medications (ASMs). Studies examining the effect of hemodialysis on perampanel serum levels in clinical settings are lacking. We aimed to evaluate the changes in serum perampanel levels during hemodialysis. We studied patients with seizures who received oral perampanel between April 2020 and March 2023 and whose serum concentration of perampanel was measured before and after hemodialysis. We analyzed the serum concentrations of levetiracetam and lacosamide for comparison. Fourteen patients, with a mean age of 76.1 ± 7.88 years, were included. The dose of perampanel was 2.14 ± 1.27 mg. The hemodialysis clearance rate of perampanel, levetiracetam, and lacosamide was 0 ± 13%, 69 ± 11%, and 59.6 ± 8.2%, respectively. The post-dialysis CD ratio decreased significantly with levetiracetam but not with perampanel. Adverse but acceptable effects of perampanel were observed in two patients. The serum concentrations of several ASMs have been shown to be reduced during hemodialysis. Our study revealed that the serum perampanel concentration does not decrease during hemodialysis. Owing to the low rate of adverse effects and the stability of perampanel serum concentration during hemodialysis, perampanel could be a favorable choice as an ASM for patients with seizures undergoing hemodialysis. PLAIN LANGUAGE SUMMARY: Our study looked at how hemodialysis affects the serum levels of perampanel, a new type of medication for seizures. In 14 patients who started treatment between April 2020 and March 2023, perampanel serum levels did not decrease during hemodialysis, unlike other seizure medications. This shows that perampanel can be a good option for patients with seizures who need hemodialysis, with fewer side effects compared to other medications.
PubMed: 38923803
DOI: 10.1002/epi4.12996 -
Epilepsia Open Jun 2024Due to extensive connectivity of the parietal lobe, non-lesional drug-resistant (DRE) parietal lobe epilepsies (PLEs) are difficult to localize and often imitate other...
Due to extensive connectivity of the parietal lobe, non-lesional drug-resistant (DRE) parietal lobe epilepsies (PLEs) are difficult to localize and often imitate other epilepsies. Therefore, patients with PLEs have low rates of seizure freedom following epilepsy surgery. Previous studies have highlighted the need to combine EEG and semiology for more accurate localization of PLEs. As sophisticated tools for localization become more available, the use of multiple different neuroimaging and neurophysiologic diagnostic tests may more readily identify PLE. We hereby report a unique case of a complex localization in a non-lesional PLE, which was initially falsely localized to frontal lobe. This case underscores the utility of voxel-based morphometry (VBM) in identifying an epileptogenic lesion on a non-lesional MRI and the significance of multimodality approach including PET, magnetoencephalopathy (MEG), interictal and ictal EEG, semiology and cortical stimulation for accurate localization of PLEs. Understanding epilepsy through multimodality approach in this fashion can help with accurate localization especially in difficulty to localize and deceptive non-lesional PLEs. PLAIN LANGUAGE SUMMARY: Parietal lobe epilepsies are hard to pinpoint in the brain and can mimic other types of epilepsy, especially when brain MRIs appear normal. As sophisticated tools for locating epilepsies in the brain become more available, using multiple diagnostic tests may help identify parietal lobe epilepsies more easily. We describe a unique case of a parietal lobe epilepsy patient with normal brain MRI whose epilepsy was initially misidentified as being in the frontal lobe. Using various advanced diagnostic tests, we accurately found the epilepsy's true location in the parietal lobe and successfully treated the patient with surgery.
PubMed: 38923414
DOI: 10.1002/epi4.13000 -
Critical Care Science 2024Boswellia serrata is an herbal extract from the Boswellia serrata tree that has anti-inflammatory and analgesic properties and alleviates pain caused by rheumatoid...
Boswellia serrata is an herbal extract from the Boswellia serrata tree that has anti-inflammatory and analgesic properties and alleviates pain caused by rheumatoid arthritis, gout, osteoarthritis, and sciatica. Syndrome of inappropriate antidiuretic hormone secretion accompanied by hyponatremia, seizures, and rhabdomyolysis as a manifestation of Boswellia serrata intoxication has not been reported previously. A 38-year-old female suffered clinically isolated syndrome and has since been regularly taking B. serrata capsules (200mg/d) to strengthen her immune system. She experienced hypersensitivity to light, ocular pain, nausea, dizziness, and lower limb weakness four days after receiving her first BNT162b2 vaccine dose, and she increased the dosage of B. serrata to five capsules (1000mg/d) one week after vaccination. After taking B. serrata at a dosage of 1000mg/d for 3 weeks, she was admitted to the intensive care unit because of a first, unprovoked generalized tonic-clonic seizure. The patient's workup revealed syndrome of inappropriate antidiuretic hormone secretion, which resolved completely upon treatment and discontinuation of B. serrata. In summary, B. serrata potentially causes syndrome of inappropriate antidiuretic hormone secretion when it is taken at high doses. Patients should not self-medicate.
Topics: Humans; Female; Adult; Inappropriate ADH Syndrome; Hyponatremia; Rhabdomyolysis; Seizures; Boswellia; Plant Extracts
PubMed: 38922237
DOI: 10.62675/2965-2774.20240049-en -
Veterinary Sciences Jun 2024Seizures are a common presentation seen in small animal practices. Seizures require prompt management including initial interventions for triage, stabilization, and... (Review)
Review
Seizures are a common presentation seen in small animal practices. Seizures require prompt management including initial interventions for triage, stabilization, and treatment with first-line anticonvulsant (AC) drugs like benzodiazepines. Concurrently, ruling out metabolic or extracranial causes with point-of-care diagnostics can help guide further diagnostics and treatments. Analysis of the history and a physical exam are also necessary to rule out common "look-alikes" that require specific diagnostic workup and treatments. Typically, causes of seizures can be grouped into intracranial and extracranial causes, with the latter being easier to diagnose with commonly available tests. This review presents a systematic approach to the diagnosis and treatment of single seizures, cluster seizures, and status epilepticus in dogs and cats.
PubMed: 38922024
DOI: 10.3390/vetsci11060277 -
Neurology(R) Neuroimmunology &... Sep 2024Encephalitis with anti-N-methyl-d-aspartate receptor antibodies (anti-NMDARe) is a rare disorder characterized by cognitive impairment, psychosis, seizures, and abnormal...
OBJECTIVES
Encephalitis with anti-N-methyl-d-aspartate receptor antibodies (anti-NMDARe) is a rare disorder characterized by cognitive impairment, psychosis, seizures, and abnormal movements. Abnormal behaviors during REM sleep have not been described in anti-NMDARe.
METHODS
Patients were monitored by video-polysomnography on a first night followed by multiple sleep latency tests and 18 hours of bed rest.
RESULTS
Two patients with anti-NMDARe developed during the acute and postacute phase parasomnias including REM sleep behavior disorder and continuous finalistic quiet gesturing during a mixed N2/R sleep. The parasomnia disorder was improved by gabapentin and clonazepam.
DISCUSSION
Video-polysomnography avoids misdiagnosing these parasomnia behaviors for seizure or movement disorders and allows adequate treatment.
Topics: Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Female; Adult; Male; Polysomnography; REM Sleep Parasomnias; REM Sleep Behavior Disorder; Parasomnias; Sleep, Slow-Wave; Clonazepam
PubMed: 38917379
DOI: 10.1212/NXI.0000000000200203 -
Cureus May 2024Macrothrompocytopenia (MTP) is a rare group of hereditary disorders that lead to impaired hemostasis. Macrothrompocytopenia mostly results from genetic mutations in...
Macrothrompocytopenia (MTP) is a rare group of hereditary disorders that lead to impaired hemostasis. Macrothrompocytopenia mostly results from genetic mutations in genes implicated in megakaryocyte differentiation and function. Diaphanous-related formin 1 (DIAPH1) is a protein-coding gene. Dominant gain-of-function DIAPH1 variants cause macrothrombocytopenia and sensorineural deafness (autosomal dominant non-syndromic hearing loss 1 (DFNA1)), while homozygous loss of DIAPH1 results in seizures, cortical blindness, and microcephaly syndrome (SCBMS). This rare genetic disease is characterized by progressive and severe hearing loss with onset in the first decade of life, is associated with mild thrombocytopenia, and has no significant bleeding tendency. This case report presents the clinical findings of a 14-year-old Saudi pediatric girl. We investigated the potential association of DIAPH1 as a novel candidate gene linked to dominant MTP and autosomal dominant non-syndromic hearing loss (ADNSHL), which was evaluated through audiometry. Notably, a novel variant, c.3633_3636del, was identified in the DIAPH1 gene. To date, only a small number of mutations in this gene have been reported as the cause of MTP and ADNSHL.
PubMed: 38915998
DOI: 10.7759/cureus.61044 -
Cureus May 2024While drugs are intended to benefit patients, adverse drug reactions (ADRs) represent a significant negative outcome of drug consumption. They rank as the sixth...
INTRODUCTION
While drugs are intended to benefit patients, adverse drug reactions (ADRs) represent a significant negative outcome of drug consumption. They rank as the sixth leading cause of death among hospitalized patients. Many harmful effects are preventable and can reduce morbidity, mortality, and hospitalization duration. This study is a valuable resource for physicians, aiding in the safe and optimal use of medications.
METHODOLOGY
This retrospective observational study, conducted at the Pharmacovigilance Center of Saveetha Medical College and Hospital, Chennai, India, received approval from the Institutional Ethics Committee. All adverse drug interactions reported in our hospital from January 2019 to February 2024 were included after screening for inclusion and exclusion criteria. The collected reactions were analyzed, assessed, and evaluated between February 2024 and April 2024. Data on the drugs causing adverse reactions, the types of reactions, and the treatments administered were collected and documented. The reactions were categorized using the Rawlins and Thompson classification, while causality and severity were assessed using the standard Naranjo causality and modified Hartwig and Siegel severity assessment scales.
RESULTS
During the study, 252 ADRs were documented by the Central Drugs Standard Control Organization. The gender distribution showed 123 cases (48.8%) in males and 129 cases (51.2%) in females, with a higher prevalence in the 20-40 age group. The departmentwise distribution revealed the highest number of ADRs in Obstetrics and Gynecology (60 cases, 24%), followed by General Surgery (52 cases, 21%), General Medicine (44 cases, 17%), Pediatrics (22 cases, 9%), and Emergency Medicine (20 cases, 8%). Antimicrobial drugs constituted the majority of ADRs (149 cases, 59.1%), followed by vitamins and mineral supplements (21 cases, 13.8%), contrast dye (15 cases, 6%), antituberculosis drugs (15 cases, 6%), analgesics (13 cases, 5.2%), and gastrointestinal (GIT) drugs (8 cases, 3.2%). Cefotaxime was the most commonly reported antibiotic (42 cases, 28.2%), followed by Ciprofloxacin (41 cases, 27.5%). Among vitamins and mineral supplements, iron sucrose was implicated in the highest number of ADRs (15 cases, 71.4%). The parenteral route of drug administration showed the highest incidence of ADRs (229 cases, 91%), followed by oral (20 cases, 8%) and topical routes (3 cases, 1%). Dermatological manifestations were most frequently reported (196 cases, 77.8%), followed by GIT symptoms (27 cases, 10.7%), and other manifestations such as shivering, fever, seizures, and dyspnea (29 cases, 11.5%). Based on the Naranjo causality assessment scale, 179 ADRs (71%) were categorized as probable, 55 (22%) as possible, 10 (4%) as certain, and 8 (3%) as doubtful. Approximately 47.2% of ADRs were self-limiting, while 44.1% required symptomatic treatment and 8.7% necessitated aggressive treatment, leading to a prolonged hospital stay or admission to the intensive care unit.
CONCLUSION
The pattern of ADRs in our hospital aligns with findings from other studies. While many of these reactions are unpredictable and mild, they underscore the importance of raising awareness among clinicians and regulatory authorities to promote safe medication use and prevent potentially serious outcomes.
PubMed: 38915954
DOI: 10.7759/cureus.60977 -
Brain Communications 2024Recent epidemiological studies propose an association between parkinsonism and seizures, but the direction of this association is unclear. Focal brain lesions causing...
Recent epidemiological studies propose an association between parkinsonism and seizures, but the direction of this association is unclear. Focal brain lesions causing new-onset parkinsonism versus seizures may provide a unique perspective on the causal relationship between the two symptoms and involved brain networks. We studied lesions causing parkinsonism versus lesions causing seizures and used the human connectome to identify their connected brain networks. Brain networks for parkinsonism and seizures were compared using spatial correlations on a group and individual lesion level. Lesions not associated with either symptom were used as controls. Lesion locations from 29 patients with parkinsonism were connected to a brain network with the opposite spatial topography (spatial = -0.85) compared to 347 patients with lesions causing seizures. A similar inverse relationship was found when comparing the connections that were most specific on a group level (spatial = -0.51) and on an individual lesion level (average spatial = -0.042; < 0.001). The substantia nigra was found to be most positively correlated to the parkinsonism network but most negatively correlated to the seizure network (spatial > 0.8). Brain lesions causing parkinsonism versus seizures map to opposite brain networks, providing neuroanatomical insight into conflicting epidemiological evidence.
PubMed: 38915927
DOI: 10.1093/braincomms/fcae196