Guillain-Barré syndrome (GBS) encompasses a variety of clinical manifestations, including the rare and easily underdiagnosed pharyngeal-cervical-brachial variant (PCB). Here, we present the case of a 57-year-old woman with no significant medical history who lives in an area endemic for vector-borne diseases. She presented to the emergency department with four days of cervicobrachial weakness and acute dysphagia. Although imaging was normal, lumbar puncture revealed albuminocytologic dissociation and neurophysiological tests demonstrated acute demyelinating polyradiculopathy, confirming the diagnosis of the CPB variant. First described in 1986, this variant has been reported following arbovirus infections, such as dengue and chikungunya. This case highlights the importance of considering this atypical form of GBS and suggests the need for future research on its possible association with vector -borne infection.
Reportes de Casos Clínicos
Síndrome de Guillain-Barré y su Variante Faringo Cervicobraquial: Presentación Inusual y Desafíos Clínicos. Guillain-Barré Syndrome and its Pharyngocervicobrachial Variant: Unusual Presentation and Clinical Challenges
Nuevas Posibles Mutaciones para Aceruloplasminemia. New Possible Mutations for Aceruloplasminemia
Aceruloplasminemia is an ultrarare ad late-onset entity within the group of neurodegeneration with brain iron accumulation (NBIA) diseases. There are new mutations to describe, such as the one in this clinical case.
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Presentación Atípica de la Enfermedad de Creutzfeldt-Jakob. Reporte de Caso en la Patagonia Chilena. Atypical Presentation of Creutzfeldt-Jakob Disease. A Case Report in Chilean Patagonia
Introduction: Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease. Symptoms include rapidly progressive dementia, myoclonus and motor impairment. In Chile, there is a remarkably high incidence, which together with the lethality of it highlights the importance of early diagnosis.
Case report: A 64-year-old woman presented with vertigo, gait instability, dysarthria and diplopia. Physical examination revealed ataxia, dysmetria and dysdiadochokinesia. Magnetic resonance imaging and electroencephalogram were ordered, with findings suggestive of CJD. Patient’s condition deteriorated rapidly, developing dementia after 3 months and dying in the fourth month.
Discussion and conclusion: CJD variants may present without alteration of cognitive functions and nonspecific prodromes. Diagnosis requires a high index of suspicion, taking as essential tests the nuclear magnetic resonance and the measurement of 14-3-3 protein in cerebrospinal fluid. The increased incidence in Chile may be due to mutations and environmental factors, suggesting the need to thoroughly in vestigate the causes and develop appropriate treatments.
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Encefalitis de Hashimoto. Hashimoto´s Encephalitis
Introduction: Hashimoto’s encephalitis (HD) is a clinical entity characterized by neurological alterations associated with the presence of positive antithyroid antibodies. This encephalopathy responds well to management with corticosteroids.
Objective: The objective of the manuscript is to present the case of a patient with Hashimoto’s encephalitis.
Clinical case: This is an 18-year-old woman with no significant history, who was admitted for a 5-day history that began with photopsias, recurrent generalized tonic-clonic seizure episodes, with recovery of consciousness between seizures. On admission she was tachycardic, disoriented, unresponsive during questioning, symmetrical pupils, with presence of vertical nystagmus, preferential gaze to the right, clonic facial and left upper limb movements. Paraclinical and imaging studies on admission were normal. On the third day of admission, the patient presented status epilepticus with ventilatory failure, so she decided to manage a barbiturate coma. Lumbar puncture showed hyperproteinorrachia as the only finding; extension studies ruled out autoimmune encephalitis; however, she had subclinical hypothyroidism with positive antiperoxidase antibodies (Anti-TPO). Given this, it was suspected that she had Hashimoto’s encephalitis, so treatment with corticosteroids (prednisolone 50 mg every day) was given, resulting in an adequate clinical evolution of the patient.
Conclusions: This is a low prevalence disease, with varied neurological and psychiatric symptoms, where one of the most important criteria for this pathological entity is the presence of positive antithyroid antibodies with a good response to management with corticosteroids.
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Enfermedad de Lafora: Primer Caso Clínico Diagnosticado en Ecuador Mediante Prueba Genética. Lafora Disease: First Genetically Confirmed Case in Ecuador
Lafora disease is an autosomal recessive progressive myoclonic epilepsy characterized by refractory generalized tonic-clonic seizures, persistent myoclonus, severe and progressive cognitive decline, and a fatal course. We present the first genetically confirmed case in Ecuador. A 17-year-old male developed generalized tonic-clonic seizures at age 13, refractory to combined pharmacological treatment. He exhibited severe and progressive cognitive decline, significant neuropsychological regression, and an IQ of 32. The electroencephalogram (EEG) showed generalized epileptiform activity compatible with progressive myoclonic epilepsy. Genetic testing confirmed a mutation in the NHLRC1 gene. A ketogenic diet was initiated as a complementary therapeutic approach. This case highlights the importance of early genetic diagnosis and a comprehensive multidisciplinary management strategy.
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Criptococosis con Vasculitis del Sistema Nervioso Central Mediada Inmunológicamente: Un Reto Diagnóstico. Cryptococcosis with Immune-Mediated Central Nervous System Vasculitis: A Diagnostic Challenge
We report the case of a 63-year-old man who initially presented with hearing loss and optic neuritis. He subsequently developed vertigo, and multiple multitopographic cerebral infarctions were documented, with negative vascular risk factor evaluation. Panangiography revealed findings suggestive of central nervous system vasculitis, and the initial lumbar puncture showed no evidence of infection; therefore, an immune-mediated vasculitis was considered. Following further neurological deterioration, central nervous system infection due to Cryptococcus neoformans was confirmed. This case highlights the diagnostic challenge and the limitations of initial microbiological testing in central nervous system cryptococcosis.
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Reto Diagnóstico en Enfermedad del Espectro de Neuromielitis Óptica Asociado a Bandas Oligoclonales Tipo 2 Positivas: Reporte de Caso. Diagnostic Challenge in Neuromyelitis Optica Spectrum Disease Associated with Type 2 Positive Oligoclonal Bands: Case Report
Neuromyelitis Optica spectrum disorder, formerly known as Devic’s disease, is characterized by an autoimmune-mediated pathology of the central nervous system. This pathology generates an inflammatory process directed against the channels of the protein Aquaporin 4, located mainly in the membrane of astrocytes. Aquaporin-4 is a protein related to water transport, which plays a crucial role in brain inflammation through mechanisms that involve the release of cytokines and astrocytic inflammation. These pathological changes cause demyelination and secondary axonal damage, with diverse clinical manifestations in the brain, spinal cord, and optic nerve sheaths. The detection of antibodies against the protein Aquaporin 4, the analysis of oligoclonal bands in the cerebrospinal fluid, and radiological findings by magnetic resonance imaging of the brain and spinal cord must be carefully evaluated to reach an accurate diagnosis in challenging clinical cases. This report reviews the differential etiologies of this disease and the challenge of comprehensive analysis of the corresponding diagnostic tests.
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Probable Síndrome de Vasoconstricción Cerebral Reversible como Manifestación de Feocromocitoma
Introduction: The pathophysiology of reversible cerebral vasoconstriction syndrome remains incompletely understood. However, failure of cerebral autoregulation, sympathetic overactivity, disruption of the blood–brain barrier, and glymphatic system dysfunction play a central role.
Case report: We present the case of a 35-year-old woman with a history of cerebral vasoconstriction syndrome who developed new episodes of thunderclap headache and intermittent hypertension two years after the initial event. During hospitalization, non-invasive neuroimaging suggested a high probability of recurrent vasoconstriction syndrome. Due to persistent autonomic symptoms, further evaluation revealed a pheochromocytoma.
Conclusion: In patients with recurrent or atypical symptoms of reversible cerebral vasoconstriction syndrome, secondary and potentially treatable causes should always be considered.
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Valoración por Ultrasonido del Nervio Vago en el Síndrome de Guillain-Barré: A Propósito de un Caso Clínico
Introduction: In Guillain-Barré Syndrome (GBS), an increased cross-sectional area (CSA) of the vagus nerve (VN) has been described as a diagnostic tool and as an indicator of autonomic dysfunction.
Methods and Objectives: With the presentation of a GBS case, we aim to describe the technique for assessing the CSA of the VN using ultrasound (US).
Results: The evaluation of the VN CSA by US is a diagnostic technique with several advantages for clinicians. CSA values greater than 3 mm² are associated with the demyelinating variant of GBS and a higher likelihood of autonomic dysfunction.
Conclusion: The assessment of VN CSA by US is a useful tool in the diagnostic approach to patients with suspected GBS.
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Enfermedad de Moyamoya. De la Descripción de los Síntomas a la Afectación Neurocognitiva en un Caso Clínico
Moyamoya disease (MD) is a cerebrovascular pathology. Characterized by a stenosis of the terminal segments of the internal carotid artery. Currently the etiology of MD isn’t clear. Different studies have focused their research on understanding the disease from epidemiological aspects, its pathophysiology and recently the neurocognitive alterations presented by patients. This disease has a progressive course that impacts cognitive function. To identify the neurocognitive phenotype presented by a patient diagnosed with MD. He’s 9-year-old male patient with sudden deterioration of his neurological status. With motor aphasia, right hemiplegia and increased tone of his left hemibody. An evaluation protocol was applied by clinical neuropsychology with general and specific tests aimed at assessing the neurocognitive functioning of the patient. The patient presents alterations in information registration tasks, sustained attention, visuospatial functioning and visuoconstructive skills, compatible with dysexecutive syndrome.
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Cavum Septum Pellucidum Et Vergae y Epileptogénesis
The prevalence of Cavum septum pellucidum (CSP) and Cavum vergae (CV) is unknown. Bruyn et al, observed that 30-50 % of subjects with CSP had epileptic seizures and manifested some degree of psychosis, dementia or personality disorders. The presence of CSP was higher in patients with extra-temporal epilepsy than in temporal lobe epilepsy and also higher in patients with neuronal migration disorder than without.
We present the case of a woman with focal epilepsy since childhood, who restarted seizures in adulthood, with no family history of epilepsy, whose son with chromosomopathy 18 died 21 days after birth. Cranial MRI showed a CSP and a CV, EEG (electroencephalogram) confirmed a left temporal focus and epilepsy was controlled with eslicarbazepine 800 mg.
We can conclude that the presence of CSP and CV is not a simple anatomical variation but may be related to the occurrence of epilepsy being a developmental anomaly that may contribute to epileptogenesis, as well as a marker of poor seizure control. We alert clinicians to be aware of this malformation in cases of diagnostic uncertainty. In addition, a wide CSP would justify a more detailed ultrasound examination and genetic counseling in trisomy 18 fetuses.
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Hematoma Subdural en Puerperio Temprano por Anestesia Regional
Intracranial subdural hematoma is an entity characterized by the rupture of the bridging veins that are found in the subdural space and promote the slow outflow of blood. A 23-year-old first-time pregnant patient presented with severe preeclampsia, for which an emergency cesarean section was performed using regional anesthesia. During the postpartum period, the patient presented a single generalized seizure episode with secondary headache. The imaging study reported the presence of a lamellar subdural hematoma. This type of injury is a rare complication of lumbar puncture, where factors such as the use of very large needles, large dural orifice, multiple punctures, pregnancy, dehydration, use of anticoagulants, coagulopathies, cerebral vascular anomalies and atrophy cerebral.
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Síndrome de Desmielinización Osmótica tras Corrección de Hiponatremia Tratado con Inmunoglobulina Intravenosa y Plasmaféresis. Osmotic Demyelination Syndrome After Correction Of Hyponatremia Treated With Intravenous Immunoglobulin And Plasmapheresis
Introduction: Osmotic demyelination syndrome (ODS) is a non-inflammatory demyelination of neurons due to apoptosis of oligodendrocytes and the infiltration of macrophages that degrade myelin. It has a prevalence of about 0.06% in hospitalized patients, which can lead to severe disability or death. It can be precipitated by aggressive correction of a hyper or hypo osmolar condition.
Clinical Case: We present the case of a 52-year-old male patient with a history of hypertension, dyslipidemia, depression, neck pain and low back pain under treatment with desvenlafaxine, gabapentin, oxycodone-naloxone, dexketoprofen, metamizole, diazepam, ezetimibe-atorvastatin, enalapril who presented low level of consciousness and tonic-clonic seizures. In the initial examination he was in a post-critical state and scored 7 points on the Glasgow scale. In the analysis he presented hyponatremia. After correction, his neurological status progressively deteriorated, with a brain magnetic resonance imaging showing a hyperintense lesion in the pons and left temporal region compatible with ODS. Immunoglobulins were administered and subsequently, 7 plasmapheresis sessions were performed. No clinical improvement was evident with the administration of immunoglobulins. Neurological improvement was presented after 7 plasmapheresis sessions.
Conclusion: Osmotic demyelization syndrome constitutes a clinical challenge for its diagnosis, and should be suspected in patients who present new neurological symptoms after correction of serum sodium levels. There are currently no guidelines for optimal treatment. However, in some cases good results have been reported with the administration of immunoglobulins or plasmapheresis.
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Ataxia Cerebelosa Aguda Secundaria a Intoxicación por Mercurio. Acute Cerebellar Ataxia Secundary To Mercury Intoxication
Cerebellar ataxia is a neurological disorder characterized by loss of coordination, particularly affecting gait and balance. It can be acquired or congenital. Among the acquired causes are infectious, metabolic, vascular, neoplastic processes, vitamin deficiencies, autoimmune diseases and toxic ones. Mercury poisoning can generate subacute or chronic neurological manifestations, with cerebellar ataxia being a rare manifestation. Cases of poisoning by this heavy metal still occur in people of underdeveloped countries, especially in fields such as illegal and low-scale mining, who still use it to extract gold. In this case, an atypical and acute presentation of mercury poisoning in an illegal mining worker patient with cerebellar ataxia will be described.
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Encefalopatía en el Paciente Hospitalizado: No Olvidar el Síndrome de Wernicke-Korsakoff. Encephalopathy In The Hospitalized Patient: Do Not Forget The Wernicke-Korsakoff Syndrome
Introduction: Wernicke-Korsakoff syndrome, a cause of encephalopathy, is frequently overlooked in the hospitalized patient.
Case report: a 52-year-old woman, who was hospitalized for a prolonged fever and liver-spleen problems, experienced progressive acute encephalopathy, which led to the exclusion of various possible diagnoses. A brain magnetic resonance imaging scan was conducted, revealing certain features of Wernicke-Korsakoff encephalopathy. Consequently, the patient was administered intravenous thiamine as empirical treatment, resulting in significant improvement.
Discussion: This case highlights the significance of considering Wernicke-Korsakoff syndrome as a potential cause of encephalopathy in hospitalized patients. It also emphasizes the atypical nature of its presentation, variable radiological findings, and the criticality of initiating early treatment.
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Meningitis por Enterococcus Casseliflavus Secundaria a Anestesia Raquídea: Primer Reporte de Caso en Las Américas. Enterococcus Casseliflavus Meningitis, Secondary To Spinal Anesthesia: First Case Report In The Americas
Neuraxial anesthesia (epidural and spinal) is a common regional anesthesia technique. Acute bacterial meningitis after spinal anesthesia is a rare event and rarely described enterococcal infection, usually occurring due to Enterococcus faecalis and Enterococcus faeciumm. We describe the first case in the Americas of meningitis caused by Enterococci casseliflavus in a young woman who received spinal anesthesia for osteosynthesis of the right ankle, who after three days developed headache, fever and disorientation. The cerebrospinal fluid (CSF) study and blood cultures confirmed the bacterial infection. The patient received antibiotic management with significant improvement. There are only two reported cases in the world of Central Nervous System involvement by Enterococci casseliflavus.
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Diffuse Neurofibroma In Neurofibromatosis Type 1: Case Series. Neurofibroma Difuso en Neurofibromatosis Tipo 1: Serie de Casos
Diffuse neurofibromas are poorly defined, benign tumors of the peripheral nerve sheath with an invasive growth pattern. They are not commonly associated with neurofibromatosis or other neurocutaneous disorders. This manuscript aims to document the occurrence of diffuse neurofibromas in patients with NF1, while providing a comprehensive review of this type of tumor. We present three cases highlighting diffuse neurofibromas’ clinical, radiological, or histological characteristics of diffuse neurofibromas in patients with a long-standing history of NF1. These rare tumors have a low prevalence but have defined and characteristic pathologic, imaging, and immunohistochemistry features for diagnosis. Treatment is challenging due to the lack of standardization in therapies and should be analyzed on a case-by-case basis. Diffuse neurofibromas should be included in the differential diagnosis in patients with NF1 and any associated cutaneous lesions. Further studies are needed to standardize an integral approach in these patients.
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Diagnóstico de la Enfermedad de Alzheimer de Inicio Temprano Mediante el Uso de Biomarcadores en Líquido Cefalorraquídeo: Reporte de Caso. Diagnosis Of Early-Onset Alzheimer’s Disease Using Cerebrospinal Fluid Biomarkers: A Case Report
Alzheimer’s disease (AD) represents between 50% and 75% of dementia cases worldwide. It is classified into two types: Late-onset (LOAD), which is common in individuals over 65 years old, and Early-onset (EOAD), which affects 5-10% of individuals before the age of 65. Its manifestations vary considerably, ranging from typical amnestic presentation in LOAD to atypical forms such as non-fluent aphasia, executive, and visuoperceptive alterations in EOAD, which makes timely diagnosis difficult.
Currently, the diagnostic model goes beyond conventional, proposing the use of biomarkers in cerebrospinal fluid for early detection and management.
In the case presented, we describe a 57-year-old woman with EOAD, characterized by a two-year history of progressive and insidious memory loss accompanied by logopenic aphasia and behavioral changes. In her family history, the patient had a history of dementia in three generations on the maternal side. To confirm the diagnosis, complementary studies were performed such as conventional brain magnetic resonance imaging with perfusion sequences and the measurement of Tau protein and Beta-amyloid peptide biomarkers in cerebrospinal fluid. These analyses confirmed the presence of early-onset Alzheimer’s disease.
In this study, we discuss the diagnostic process of Alzheimer’s disease, emphasizing in the use of biomarkers in cerebrospinal fluid.
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Infarto Cerebral que Simula una Encefalitis: A Propósito de Tres Casos. Cerebral Infarction Mimicking Encephalitis: Regarding Three Cases
The differential diagnosis between Stroke and Encephalitis from a clinical point of view in some cases can be complicated, making it necessary to resort to MRI diffusion sequences. Three men with acute ischemic stroke (AIS) are presented, all three with suspected encephalitis that were a diagnostic challenge for the clinician. The first case, an AIS in the territory of the right anterior cerebral artery (ACA) that was initially medicated with antibiotic therapy for community pneumonia, and the reappearance of fever and epileptic seizure made us think of a CNS infection. The second case was an infarction in the border territory of the left middle cerebral artery (MCA)/posterior cerebral artery (PCA) with onset of aphasia, fever and agitation accompanied in its evolution by extensive intestinal ischemia with a fatal outcome. The third case, an AIS of the posterior circulation with inaugural headache, vomiting, altered level of consciousness and speech with transient right motor deficit in which the cause of the stroke was a patent foramen ovale (PFO). The three cases correspond to cerebral infarcts that simulate encephalitis in the clinic and in cerebrospinal fluid (CSF): light pleocytosis, proteinorrachia, without identified microorganism. In the literature, there are no studies or clinical series, only exceptional clinical cases of this form of presentation whose pathogenic mechanism is unknown. In these cases, we must always exclude an embolic stroke of undetermined origin (ESUS).
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Muerte Encefálica: Diagnóstico Apoyado por Doppler Transcraneal. Brain Death: Diagnosis Supported By Transcranial Doppler
Brain death is diagnosed through a clinical examination that requires a period of observation. We present the case of a patient diagnosed with aneurysmal subarachnoid hemorrhage, in whom after presenting symptomatic vasospasm, brain death was diagnosed with the support of transcranial Doppler sonography.
Conclusion: Transcranial Doppler allows us to demonstrate the cerebral circulatory arrest that accompanies brain death and shortens the observation period.
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Encefalopatía Posterior Reversible asociada a hipercalcemia maligna: una presentación poco usual. Posterior Reversible Encephalopathy associated with malignant hypercalcemia: an unusual presentation
Posterior reversible encephalopathy syndrome (PRES) is a transient clinical condition associated with a loss of cerebral vascular regulation. We present the case of a patient diagnosed with abdominal diffuse large B-cell lymphoma who presented to the emergency department with visual impairment, headache, and seizures. A brain magnetic resonance imaging showed T2 bilateral occipital hyperintensity and on diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) showed hyperintense signal, consistent with vasogenic edema compatible with PRES, with no additional findings on images or in cerebrospinal fluid. The only abnormal metabolic finding was hypercalcemia. Metastatic involvement of the central nervous system was ruled out. Medical management of the hypercalcemia was performed, achieving complete resolution of the patient’s symptoms with reversibility of the imaging alterations 6 weeks after the episode.
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Epilepsia del lóbulo temporal de inicio tardío en etapa post-Covid. Post-Covid Late onset temporal lobe epilepsy.
Introduction: Temporal lobe epilepsy (TLE) of is the most frequent form of adult epilepsy, temporal mesial sclerosis (TMS) is a common abnormality associated. It could appear at the end of second decades in life.
Case report: We report a male patient, 67 years old, who suffered moderated Covid 19. Six months, he started with seizures which characterized by gastric disturbances, hand and oral automatisms, teeth snapping, upper extremities rigidity and change of hands coloration. EEG showed interictal paroxystic activity over left frontal and central-temporal regions and also abnormalities in quantitative measures. MRI described frontal, parietal, occipital and temporal mesial atrophy with hyperintensity on mesial and hippocampal areas. The volumetric value was diminished on middle frontal and temporal gyrus, pre-central gyrus, parietal lobe, insular cortex and operculum, the value of cortical thickness was diminished on pre-central gyrus.
Conclusions: This is a case with unusual beginning of TLE due to TME post-Covid.
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Síndrome de encefalopatía posterior reversible atípico en paciente gestante. Atypical posterior reversible encephalopathy syndrome in a pregnant patient.
Introduction: Posterior reversible encephalopathy syndrome (PRES) was first described by Hinchey in 1996, when he observed that some patients presented with an acute reversible picture comprising mental alterations, loss of vision and headache.
Objective: To present the clinical case of a patient with atypical posterior reversible encephalopathy syndrome.
Clinical case: A 19-year-old woman, 36.5 weeks of gestation, presented with a clinical picture of 4 hours of evolution with high intensity stabbing pain in the epigastrium associated with moderate intensity global headache, accompanied by a self-resolved convulsive episode. Magnetic resonance imaging (MRI) showed bilateral intensity changes in the frontoparietal cortico-subcortical regions, lenticular nuclei and brain stem region with restrictive pattern in some lesions, and diffusion was indicative of ischemic vascular involvement with diffuse edema, in addition, parietooccipital paramedial hemorrhagic foci were observed bilaterally, suggesting a possible PRES.
Conclusions: PRES should be considered as a diagnosis in a previously healthy pregnant woman who has sudden convulsive episodes during labor. The exact etiology of PRES during pregnancy is not entirely clear and remains controversial. Clinical presentation and MRI are used for diagnosis. Immediate treatment should be focused on controlling the underlying cause or pathology, the main one being hypertension.
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Síndrome de Guillain Barré asociado a infección por SARS-CoV-2. Guillain-Barré Syndrome Associated with SARS-CoV-2 infection.
Guillain-Barré Syndrome (GBS) is an uncommon but potentially serious clinical entity characterized by symmetric, rapidly progressive limb weakness, reduced or absent deep tendon reflexes, and paresthesias. This case report discusses a 23-year-old male with a history of SARS-CoV-2 infection, presenting with paresthesias, weakness in the thighs, and walking difficulty.
Physical examination exhibited asymmetric facial diplegia, right sixth cranial nerve palsy, flaccid quadriparesis with predominant crural involvement, and generalized areflexia.
Electrophysiological studies, practiced within the first week, revealed absent H reflex and delayed distal motor latencies. Additionally, concentric needle examination showed no abnormal activity at rest, with a pattern of poor recruitment of motor units with normal morphology. The cerebrospinal fluid analysis showed albumin-cytological dissociation. Intravenous immunoglobulin therapy was initiated, resulting in gradual neurological stabilization, and the patient was discharged with a Rankin score of 4/5.
Follow-up evaluations showed improvement in motor symptoms, and after six months, the patient fully reintegrated into normal life. This case emphasizes the association between GBS and prior COVID-19 infection, highlighting the importance of neurological monitoring during convalescence.
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Crisis focales como síntoma de presentación del síndrome HaNDL (cefalea transitoria y déficits neurológicos con pleocitosis linfocitaria). Focal seizures revealing HaNDL syndrome (Transient headache and neurological deficits with lymphocytic pleocytosis).
A 38-year-old woman with a history of migraine presented with two tonic-clonic seizures confined to the left size of the body, which occurred one hour apart. The second seizure was followed by severe headache and hemiplegia ipsilateral to the seizures, which persisted for 24 hours, reversing completely thereafter. Brain MRI and a 21-channel EEG were normal. A lumbar puncture revealed CSF under normal opening pressure, discrete lymphocyte pleocytosis, and normal glucose and protein levels. This patient meets the diagnostic criteria for HaNDL syndrome, a rare condition of unknown cause, whose prognosis is usually favorable, with complete reversal of symptoms within a few weeks. Its diagnosis must be taken into account to avoid the practice of invasive tests or complex treatments that are not devoid of adverse effects.
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Absceso cerebral: una entidad poco común en pediatría. Brain abscess: an uncommon entity in pediatrics.
Brain abscess rarely occurs in children. It is a neurosurgical emergency with a potentially catastrophic outcome, with a high risk of permanent neurological deficit. With the introduction of modern imaging, antibiotics, and stereotactic surgical techniques, mortality has decreased markedly. Symptoms are nonspecific and may vary depending on the child’s age, location, size, number, and stage of the abscess, and the primary source of infection. Despite the decline in mortality, brain abscess remains a serious disease that can lead to serious morbidity or even death if diagnosed late, incorrectly diagnosed, or inadequately treated.
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Parkinsonismo y deterioro cognitivo rápidamente progresivo en un paciente con lupus eritematoso sistémico y síndrome antifosfolípido triple positivo. Parkinsonism and rapidly progressive cognitive decline in a patient with systemic lupus erythematosus and triple-positive antiphospholipid syndrome.
Background: The association between parkinsonism and systemic lupus erythematosus is inadequately described, and to date, the underlying pathophysiological mechanisms are not fully established, ranging from vascular impairments to immunomediated phenomena. Literature analysis identified only 28 cases of parkinsonism in patients with systemic lupus erythematosus, underscoring the limited attention to these associations and their respective therapeutic approaches.
Case Report: We present a case of a patient with an atypical presentation of systemic lupus erythematosus and a diagnosis of triple-positive antiphospholipid syndrome. Despite the absence of lupus activity, the patient developed symptoms of parkinsonism and rapidly progressive cognitive decline. No other underlying causes or thrombotic events in brain imaging were found to explain the atypical clinical presentation. Simultaneous administration of immunosuppressive therapy and levodopa/carbidopa resulted in symptom improvement.
Conclusion: Insufficient research has been conducted on the correlation between systemic lupus erythematosus and parkinsonism, primarily due to its seemingly low incidence in the medical literature. Consequently, this case report offers additional insights into this association, potentially laying the groundwork for future structured and well-designed studies. The efficacy of levodopa and immunosuppressive therapy in treating these patients remains uncertain and necessitates further investigation.
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Síndrome de RETT: Abordaje desde la fisioterapia y terapia conductual. RETT syndrome: Approach from physiotherapy and behavioral therapy.
Purpose: Rett syndrome is considered a neurodevelopmental disorder with late regression, its main clinical manifestation is the progressive delay of already acquired motor and language skills, accompanied by rigidity and stereotyped hand movements. The aim of this case report was to identify the effects of a physiotherapeutic intervention combined with behavioral therapy in a patient with Rett syndrome.
Case presentation: We present the case of a 10-year-old girl with a medical diagnosis of Rett syndrome, stage III, or also called stabilization or pseudo-stationary stage. Physiotherapy and behavioral therapy were applied 3 times a week, with 45-minute sessions for a period of 12 months of treatment.
Results: Changes were achieved in gross motor function, balance reactions, straightening, in the ability to avoid obstacles and follow instructions; these skills were preserved for 6 weeks (at the end of treatment), and again, the regression of psychomotor functions is evidenced, which may be due to the characteristics of the syndrome.
Conclusion: the results obtained suggest that the combination of physiotherapy with behavioral therapy generates positive changes in gross motor function and behavior in girls with Rett syndrome.
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Mixoma de aurícula derecha como probable causa de migraña. Right atrial myxoma as a probable cause of migraine.
Introduction: Cardiac myxoma is a benign tumor known as the “great imitator” because it can manifest clinically in a very diverse manner and/or with nonspecific findings that create a lot of confusion and make diagnosis difficult. It is associated with neurological manifestations, typically secondary to embolic complications affecting the nervous system, such as ischemic strokes, which can cause dizziness, headaches, loss of consciousness, and/or vision and speech disturbances.
Clinical Case: A 16-year-old female patient with a six-month history of headaches and no other neurological history. She was hospitalized for diagnostic evaluation by the neurology department, where her condition was interpreted as primary migraine-type headaches without aura. Among the tests performed during her hospitalization, an intracardiac mass in the right atrium was detected, compatible with cardiac myxoma, confirmed by postoperative histopathological analysis. She evolved favorably without presenting neurological symptoms again.
Conclusion: The occurrence of migraines in patients with cardiac myxomas is rarely reported, and this condition has only been associated with myxomas located in the left heart chambers. Describing the different published pathophysiological mechanisms that can lead to this neurological condition, and due to the unusual nature of the case reported, given the location of the neoplasm in the right heart chambers, it is considered possible that the migraine may have originated from the synthesis and release of vasoactive intestinal polypeptide by the myxomatous tumor.
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Complicaciones neurológicas en la acondroplasia: Cuadriparesia post traumatica en estenosis cervicomedular. Neurological complications in achondroplasia: Post-traumatic quadriparesis in cervicomedullary stenosis.
Achondroplasia is a common skeletal dysplasia characterized by short stature and bone deformities, caused by a mutation in the FGFR3 gene. Patients with this condition are at risk of neurological compression, especially at the craniocervical junction. We present the case of a girl with achondroplasia who suffered a traumatic brain injury, revealing stenosis of the foramen magnum and spinal cord contusion on MRI. Surgical decompression was performed with favorable results.
