Introduction: Fahr’s disease is a rare pathology characterized by brain calcinosis syndrome, usually found incidentally and late in individuals with neurological and psychiatric symptoms, with these manifestations from an early age. It is a genetic disorder of unclear etiology of autosomal dominant behavior and can be a ssociated with metabolic, hereditary, or acquired etiology.
Objective: To present the case of a patient with Fahr’s disease treated in a second-level regional hospital in a rural area of central Andean Colombia.
Clinical case: This is a 54-year-old woman who consulted for the first seizure episode, with a significant pathological history of schizophrenia and a family history of maternal Alzheimer’s. Simple cerebral computed tomography was performed, which reported multiple periventricular calcifications and symmetric calcifications at the level of the basal ganglia with hypocalcemia and hypoparathyroidism.
Conclusions: Fahr’s disease is a rare entity, however, it is important to suspect and know about it early; Diagnostic images are essential for detection, and the search for differential diagnoses or associated metabolic causes is important for treating these patients in a timely and adequate manner.
Seizures
Síndrome de Fahr e hipoparatiroidismo. Fahr syndrome and hypoparathyroidism.
Perfil de efectividad y seguridad de preparaciones orales de cannabis para el tratamiento de epilepsias refractarias en la población infantojuvenil. Una revisión de alcance. Effectiveness and safety profile of oral cannabis preparations for the treatment of refractory epilepsies in infant-young population: A Scoping Review
Introduction: Refractory epilepsies (RE) are a common neurological condition expressed in childhood and adulthood, highlighting the current use of cannabis as an alternative treatment. Oral Cannabis Preparations (OCP) have demonstrated effectiveness in the adult population; however, knowledge is limited in the infant-young population.
Aim: To synthesize the available evidence on the efficacy and safety of OCP for the treatment of refractory epilepsies in the infant-young population.
Methods: The present study followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines and included studies from January 2013 until December 2020 from electronic databases, including SciELO, ScienceDirect, PubMed, and Web of Science.
Results: 7 articles were included in this scoping review for critical analysis. The results indicate that pharmaceutical and artisanal origin OCP has 41.3% effectiveness in reducing seizures and low safety after administration (≤ 27.4%). Likewise, after administration, the most frequent adverse symptoms were somnolence/fatigue, weight loss/decreased appetite, and irritability/aggressiveness.
Conclusion: The low levels of effectiveness and safety of OCP suggest that they should be administered with caution and as a complementary treatment and not as the first choice for managing RE in the infant-young population.
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Perspectivas en el Abordaje Farmacológico de la Epilepsia: Una Revisión Extensa de la Farmacoterapia Perspectives On The Pharmacologic Management Of Epilepsy: A Comprehensive Review
Background. Epilepsy represents the third most common reported neurologic disorder, surpassed only by cerebrovascular accidents and Alzheimer’s disease. Iyt is believed that around 70% to 80% of all convulsive disorders can be successfully controlled with monotherapy alone and an additional 10% to 15% with combination therapy. Around 10% of cases never achieve remission through pharmacological therapy alone. Objectives. Through this comprehensive review of the literature describing the current available pharmacologic therapies for the management of epilepsy and their recognized indications, the authors intend to provide an educational tool that could assist the general practitioner to make decisions when selecting a suitable treatment strategy according to a specific clinical scenario (and as guided by their own professional judgment, circumstances and clinical reality). Methods. We used a wide variety of medical search engines, articles and abstracts for the purpose of data collection and interpretation. Conclusions. Through this review the authors managed to present all current and innovative approaches regarding the pharmacologic management of epilepsy encompassing the scope of current knowledge.
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Utilidad del Video EEG en un Hospital Pediátrico de Nivel Terciario Durante el Año 2015. Utility Of Video EEG In A Pediatric Tertiary Hospital During 2015.
The aim was to evaluate the V-EEG usefulness in the differential diagnosis of epilepsy in a Third Level Children’s Hospital during 2015. Materials and Methods: A descriptive study was performed over 90 patients in this unit during 2015. The data was obtained from variables related to indications and results of V-EEG, which were analyzed using descriptive statistics. Results: Fifty three percent of the patients were male. The mean age was 7.7 years (SD ± 4.7 years). The time measured between the first seizure and the V-EEG recording was 4,3 years. Seventy two patients (80%) had epileptic seizures, 12 patients (13,3%) had nonepileptic seizures, while six children (6.7%) had no seizures during the V-EEG monitoring. Ninety three percent of all recordings were successful. Conclusions: It was demonstrated the usefulness of V-EEG monitoring for the differential diagnosis of epilepsy.
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Diagnóstico de un paciente con crisis porfírica hepática aguda.
We present a 21 year old woman treated with carbamazepine because of epileptic seizures. She was evaluated at the epilepsy section for possible seizures associated with abdominal pain, psychosis, dysautonomic features and elevated hepatic enzymes. Diagnosis was based on clinical features and biochemical determination of urinary porphobilinogen and absence of fluorescence for porphyrin in blood sample and hepatic tissue. Conclusions: Acute Intermittent Porphyria constitutes a rare cause of symptomatic seizures but the association of seizures with abdominal pain, dysautonomic features, and psychosis suggest the disease and its recognition is very important because it is potentially mortal but suitable to improve with adequate treatment.
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Pseudotumor Inflamatorio del Seno Frontal asociado a Crisis Comiciales.
Inflammatory pseudotumor of the paranasal sinuses is a rare, chronic, benign entity that results in symptoms according to the location of the lesion. Sometimes it can be locally invasive, so it must be distinguished from malignant processes. We report a case of a patient who presented with headache and seizures in whom an inflammatory pseudotumor was diagnosed histologically. To our knowledge there are not documented cases of frontal sinus involvement and associated seizures due to intracranial invasion. The differential diagnosis with other entities is difficult despite imaging studies so the biopsy and pathology are key determinants.
