Tuberculosis is a global public health problem. In pediatric ages it represents between 3% and 40% of the total disea- se. In countries with high incidence, such as Ecuador, the presence of cases of childhood tuberculosis always indicates the circulation of Mycobacterium tuberculosis or contact with an untreated patient or undiagnosed. In our country there is a high percentage of underdiagnosis of childhood tuberculosis and a lower burden than expected, mainly in children under 5 years of age. Meningeal tuberculosis is the most serious form of presentation of infection by M. tuberculosis in pediatric age since it causes many deaths and disability. The diagnosis of tuberculous meningitis is achieved considering epidemiological criteria, laboratory studies in blood, cerebrospinal fluid, and neuroimaging. Early treatment improves the prognosis, but the problem lies in making an early diagnosis, since it has different forms of clinical presentation ranging from nonspecific symptoms to severe neurological involvement.
Reportes de Casos Clínicos
Parálisis periódica hipocalémica: reporte de caso. Hypokalemic periodic paralysis: case report
Hypokalemic periodic paralysis is a disease included in the skeletal muscle channelopathies, characterized by attacks of muscle weakness secondary to dysfunction of Cav1.1 calcium or Nav1.4 sodium channels. We report a case of a patient with a diagnosis of episodic hypokalemic paralysis confirmed by genetic study, and a brief discussion regarding the importance of genetic analysis, its clinical and therapeutic implications.
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Hallazgos histológicos en epilepsia temporal familiar en una familia de ascendencia Maya. Histological findings in familial temporal epilepsy in a Mayan descent family
Familial temporal lobe epilepsy is a heterogeneous genetic syndrome, initially recognized in studies with twins. In this condition, many members of a family are affected by psychic or autonomic auras and focal seizures with altered consciousness. We describe two brothers, children of non-blood parents, with different phenotypes of familial temporal lobe epilepsy and drug resistance who were referred to our center for epilepsy and functional neurosurgery. The family, of Mayan descent, has a history of epilepsy in other relatives. Epilepsy surgery was performed on the two brothers while remaining seizure-free today. The histological findings in both cases were consistent with cortical focal dysplasia IIIa. It is the first Latin American report of siblings with evidence of a correlation between familial temporal lobe epilepsy and histological changes suggestive of cortical focal dysplasia IIIa.
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Cerebelo: No Sólo Función Motora – A Propósito de un Caso. Cerebellum: Not Just Motor Function – About A Case.
The cerebellum constitutes a nervous structure with multiple bidirectional connections with the prefrontal cortex. This relationship allows us to understand its importance on neurocognitive processes. Multidisciplinary evaluation of neurological conditions allows us to study in depth its impact on the emotional and cognitive sphere.
Present case study aims to analyze the neurological and neuropsychological characteristics of a 64-year-old patient with cerebellar degeneration (novo progressive cerebellar atrophy) , which has 15 years of evolution but evaluated by the neuropsychology area the last four years.
After clinical evaluation carried out in two stages, and after check standardized neurocognitive tests, significant qualitative data are observed. A progressive decline in the patient’s neurocognitive sphere is evident, mainly in executive processes, such as bradypsychia, attention deficit, cognitive rigidity, foresight deficit, and categorical evocation.
The results suggest deterioration evidenced probably related to underlying cerebellar disorder, and evidence of cortex-cerebellar circuits, such dysfunction will influence on neurocognitive processes of executive type.
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Ictus no comunicable en un adulto joven con parálisis cerebral portador del genotipo MTHFR variante C677T homocigótica. Noncommunicable stroke in a young adult with cerebral palsy carrying the homozygous variant MTHFR C677T genotype.
Cerebral palsy (CP) is a group of disorders that affect movement and muscle tone or posture. It is caused by damage that occurs in the immature brain as it develops, most often before birth.
Although there are few studies in the literature, it has been seen that the risk of stroke is increased in this type of patients. We present the case of a young adult with a recent stroke and CP carrying. The homozygous variant MTHFR C677T genotype, decreased folic acid and vitamin D were found. Stroke in CP context is a challenge for the clinician. Therefore, we think that the possibility of stroke should be considered in every patient with CP, suggesting primary prevention measures in every patient with CP.
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Mielopatía Espondilótica Cervical Como Un Imitador De Accidente Cerebrovascular. Cervical Spondylotic Myelopathy As A Stroke Mimic.
Cervical spondylotic myelopathy (CSM) is the most common nontraumatic spinal cord condition in people over 55 years of age. This disorder is due to compression of the spinal cord by a stenotic cervical canal. A 55-year-old hypertensive patient with a clinical picture that simulated a stroke is described, due to a sudden onset of a right brachiocrural motor deficit, with elevated blood pressure levels in the range of hypertensive crisis. Hours later the patient presented the same motor deficit contralaterally: Computed tomography and magnetic resonance imaging of the brain showed no abnormality. The finding of atrophy in the interosseous muscles was striking. Cervical magnetic resonance imaging was performed showing a narrow spinal canal, with spinal cord hyperintensity in T2 sequences at levels C2 to C6. The most frequent causes of stroke mimics are tumors and metabolic toxic disorders. Spinal disorders represent 1.7% of all cases, CSM being a rare cause.
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Presentación rara de síndrome antifosfolípido primario asociado a hiperhomocisteinemia como causa de enfermedad cerebrovascular isquémica recurrente en varón joven. Rare presentation of primary antiphospholipid syndrome associated with hyperhomocysteinemia as a cause of recurrent ischemic stroke in young male.
We present the case of a 38-year-old male patient with a history of recurrent ischemic cerebrovascular disease without determined etiology and venous thrombosis in lower limbs. Due to the aetiological diversity of cerebral infarction in a young adult, he underwent a series of clinical tests, which resulted in the diagnosis of a primary antiphospholipid syndrome associated with hyperhomocysteinemia.
Once the diagnosis was made, he was given therapy with anticoagulants and corticoid pulses; with posterior improvement. Antiphospholipid syndrome is part of the differential diagnosis in young women with cerebral infarction; most cases have been reported in its secondary form, but finding it in primary form and in a male patient is rare. Also, increased homocysteine values are related to the severity of the first cerebrovascular event, but not to recurrent events.
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Enfermedad de Pompe de inicio tardío desencadenada por el embarazo, reporte de una variante clínica genómica descrita por primera vez en un adulto. Late onset Pompe’s disease in a woman triggered by pregnancy, a genomic clinical variant first time described in an adult.
Background: this is the first time in the world that the variant NM_000152 (GAA_V001):c.1555A˃G; p.(Met519Val), is a described in an adult woman, triggered by pregnancy. It is a substitution for a non-sense, homozygous, probably pathogenic mutation.
Case report: this is the case of a mestizo adult woman, born and resident in Ecuador, who during her breastfeeding period, after a pregnancy and cesarean delivery, it did debut with a musculoskeletal disorder. It hospitalized this patient at the Eugenio Espejo Hospital in Quito Ecuador; she has been re-admitted several times. Most relevant clinical findings were proximal muscle weakness, lower limb muscle weakness, difficulty in climbing stairs, respiratory insufficiency due to muscle weakness, edema of her lower limbs, impairment of activities of daily living, orthopnea, sleep disturbance, muscle weakness, elevated serum creatine kinase, abnormal enzyme/coenzyme activity, lumbar scoliosis, pulmonary arterial hypertension, with tricuspid regurgitation and mild mitral regurgitation, fatty replacement of skeletal muscle, pulmonary insufficiency, skeletal myopathy and myotonic discharges in EMG.
Conclusion: this is the first time worldwide that the variant NM_000152(GAA_V001):c.1555A˃G; p.(Met519Val), a substitution by a missense mutation, homozygous, likely pathogenic is describe in an adult. It is the first case triggered by pregnancy , first case of late onset described in Ecuador, and first case described in a mestizo woman from Ecuador.
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Síndrome de Percherón. Ictus Talámico bilateral. Percheron syndrome. Bilateral thalamic stroke.
Percheron syndrome or synchronous bilateral thalamic infarction is a rare entity with a difficult clinical diagnosis. The complex structure of the thalamus in nuclei, as well as its peculiar irrigation and individual anatomical variability means that ischemic lesions can occur bilaterally in both thalamus due to the obstruction of a single artery, characterizing this picture. We present a case with acute ischemic lesions in both thalamus and anterior midbrain, compatible with the obstruction of the Percheron artery.
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Parálisis Del III Par Craneal Con Disfunción Externa Completa y Preservación Pupilar Como Manifestación de Aneurisma. Reporte de Caso. Third Nerve Palsy With Complete External Dysfunction And Pupillary Preservation, As A Manifestation Of Aneurysm. Case Report.
Acquired paralysis of the oculomotor nerve in the adult population includes various etiologies and frequently those that produce compressive lesions, such as intracranial aneurysms, generate pupillary involvement.
Increasing reports have shown atypical clinical presentations in intracranial aneurysms and this report presents the case of a patient without internal dysfunction or with pupillary preservation in addition to complete external dysfunction, that is, paralysis of all extraocular muscles innervated by the third cranial nerve, due to an intracranial aneurysm, which has not been published in the literature so far. Considering the mortality that is implied by an aneurysmal rupture and the novel clinical presentations reported to date, it is of great importance to request diagnostic means quickly to all patients with third cranial nerve palsy, regardless of their clinical expression.
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Enfermedad de Parkinson y Respuesta Autonómica al Dolor. Parkinson’s Disease And Autonomic Pain Response.
A clinical case of PD is provided in which we analyze the autonomic involvement in response to pain, using various neurophysiological parameters. After the neurophysiological examination of pain thresholds (hand grip), this patient with 13 years history of Parkinson’s disease, showed a peripheral decrease that made the measurement of blood pressure not very stable. Sympathetic activity and nociceptive sensitivity were diminished, expressing the postganglionar noradrenergic myocardial denervation as it is widely known in parkinsonian patients. It is important to have in mind the autonomic nervous system involvement in Parkinson’s disease.
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Trombo Flotante en Arteria Carótida. Carotid Free-Floating Thrombus.
Carotid free-floating thrombus (FFT) is a rare cause of ischemic stroke, usually detected during etiologic vascular studies. There is no consensus regarding the management of carotid free-floating thrombi in those patients.
A 83-year-old male presented to the emergency department with right hemiparesis and dysarthria, consistent with finding of multiple left hemispheric brain infarcts on neuroimaging. Contrast CT showed a free-floating thrombus fixed to an atheroma plaque in left internal carotid artery (ICA). Holter monitorization registered a not previously noticed paroxystic atrial fibrillation. Due to findings, sodic heparinization was started and serial ecosonographic monitoring of the thrombus was performed. He was discharged home with a clot reduction >50% with oral anticoagulant therapy (rivaroxaban 20mg daily). At 2 months, ecographic control was realized without residual clot in left ICA.
Oral anticoagulation is currently the first therapeutic option that should be considered when a FFT is detected. In some reported case series, simple antiplatelet therapy was associated. Deferred surgical endarterectomy has a limited therapeutic gap in these patients when an ulcerated atheroma plaque or a significant stenosis carotid stenosis are detected. Surgical thrombectomy is reported only in few cases series. Endovascular therapies are steadily growing as an effective option when a FFT is detected, usually associated with distal protection devices to avoid distal embolization.
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Síndrome de Arteria Espinal Anterior. Anterior Spinal Artery Syndrome.
Spinal cord infarction is not common to see during daily clinical practice, it is a much rarer condition than a cerebral infarction. However, it is still important, although sometimes it is a challenge, the recognition and correct early management of this pathology that can have a catastrophic prognosis. The meticulous neurological examination is the key to suspect this disease. The most frequent clinical presentation is the anterior spinal artery syndrome. Typically, this syndrome is composed of loss of motor function, pain and temperature sensitivity loss, relatively preserving the proprioceptive and vibratory sensitivity below the level of the lesion. The most important imaging study is magnetic resonance imaging. The treatment is aimed at the general support of the patient, looking for the cause and secondary prevention. We present the case of a 33-year-old male patient, admitted with weakness and paresthesias in the lower limbs, limitation for gait, in addition to 1/5 dysfunctional paraparesis, sensitive level in D5, abolished abdominal reflexes and distal socks type hypoesthesia. Magnetic resonance imaging of the lumbar spine with gadolinium revealed longitudinal hyperintensity in anterior spinal medullary T2 in sagittal sequences from T1 to T8.
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Encefalitis Límbica Autoinmune Asociada a Anticuerpos LGI1. Autoimmune Limbic Encephalitis Associated With LGI1 Antibodies.
Introduction: Leucine rich glioma inactivated protein 1 (LGI1) antibody encephalitis is a rare disease characterized by subacute memory impairment, behavioral disorders and epileptic seizures. Even most cases have a good outcome, residual cognitive deficits are common.
Case report. A 76 years old woman who started with acute onset generalized tonic – clonic seizures and subsequent impaired level of consciousness. Antiepileptic treatment was started with slight clinical improvement. In magnetic resonance imaging performed during admission left hippocampal hyperintensity was seen in T2 and T2-FLAIR sequences. As autoimmune limbic encephalitis was suspected, immunomodulatory treatment with intravenous corticosteroids and immunoglobulins was started with clinical improvement. Afterwards, anti–LGI1 antibodies were positive in cerebrospinal fluid testing.
Conclusions. Anti–LGI1 antibody related encephalitis can produce different neurological manifestations and diverse onset, even acute. Early immunomodulatory treatment is important to improve both clinical manifestations and long–term outcome.
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Encefalitis Autoinmune Anti-Receptor NMDA Reporte de Caso Clínico y Revisión de Literatura. Anti-NMDA Receptor Encephalitis Case Report And Review Of Literature
Anti-NMDA Antibody encephalitis is an autoimmune entity characterized by the presence of autoantibodies against NMDA receptors. It is important to have in mind this entity, because it can be misdiagnosed initially due to its symptoms erroneously attributed to a psychiatric disorder, and diagnosis and treatment may be delayed. In this case report we describe a young woman who entered with neurological – psychiatric symptoms that simulate an acute schizophrenia and finally was diagnosed of autoimmune encephalitis.
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Síndrome de Encefalopatía Posterior Reversible de Etiología Atípica. Posterior Reversible Encephalopathy Síndrome of Atypical Etiology
Posterior reversible encephalopathy syndrome is a clinical-radiological syndrome, characterized by images compatible with vasogenic edema, whose pathophysiology is not fully clarified. There are multiple described causes of this syndrome, mainly severe arterial hypertension, renal insufficiency, sepsis, preeclampsia or eclampsia, immunosuppressive therapy and others. We report a case of a 38-year-old man, renal post-transplant in treatment with mycophenolate and prednisone, with renal failure of the transplant and chronic anemia, hospitalized by urinary focus sepsis plus lymph node tuberculosis, who after receiving 1 concentrate of red blood cells presents seizures, Hb elevation of 3.1 g/dl and images compatible with vasogenic edema and almost complete resolution of them at 16 days.
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Parálisis Facial Secundaria a Arteritis de la Arteria Carótida Interna en Paciente Escolar. Facial Palsy Secondary To Arteritis Of The Internal Carotid Artery In A School Patient
Facial palsy can be secondary to multiple etiologies such as infectious, traumatic, neoplastic, metabolic and neurological; with resolution in most cases. It has an incidence of between 11.5 and 40.2 cases per 100,000 people/year including adult and pediatric patients. We present the case of a 9-year-old patient who consulted for facial paralysis in whom a diagnosis of stenosis of the internal carotid artery was made, with subsequent symptomatic improvement with specific treatment.
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Demencia Rápidamente Progresiva Como Manifestación de Recaída en Linfoma de Células Del Manto: Experiencia en Diagnóstico y Tratamiento. Rapidly Progressive Dementia As A Manifestation Of Relapse In Mantle Cell Lymphoma: Experience In Diagnosis And Treatment
Introduction: Rapidly progressive dementia is an entity that has a multiple and heterogeneous etiology. It is characterized by the alteration of two or more cognitive domains in a period of less than 1 to 2 years. The involvement of the central nervous system attributed to mantle cell lymphoma is rare with a poor prognosis and mainly debuts in the late stages of the disease as a relapse. Case Report: A 61-year-old male with a history of mantle cell lymphoma who presents a relapse of the central nervous system, given by a clinical course compatible with a rapidly progressive dementia and which is confirmed by flow cytometry studies in cerebrospinal fluid. It presents an adequate response to management with a tyrosine kinase inhibitor (Ibrutinib), resolving clinical symptoms and imaging findings. Discussion: The involvement of the central nervous system secondary to mantle cell lymphoma is a rare complication and debuts as a relapse with variable clinical manifestations that requires a timely intervention with the aim of improving patient survival. Therapy with a single agent such as Ibrutinib seems to be a good alternative in cases of refractoriness and neurological involvement.
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Schwannoma Con Una Localización Cervical Infrecuente en un Paciente Pediátrico: Reporte De Caso. Schwannoma With A Non-Frequent Location In Pediatric Patient. Case Report
Schwannomas are usually benign, slow-growing tumors, usually found in adults. They are very rare in the pediatric population and their diagnosis requires a high index of clinical suspicion. We present the case of a 9-year-old male patient with a history of an asymptomatic cervical mass, with no other relevant clinical history. Total excision of the mass was possible, and histopathology confirmed the diagnosis of schwannoma. The patient recovered completely, with excellent prognosis. It is necessary to keep in mind schwannomas in the differential diagnosis in cases of cervical masses in pediatric patients.
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Encefalitis Límbica Autoinmune Asociada a Anticuerpos LGI1: Presentación de un Caso y Revisión de la Bibliografía. Autoimmune Limbic Encephalitis Associated With LGI1 Antibodies: Case Report And Review Of The Literature
Introduction: Leucine rich glioma inactivated protein 1 (LGI1) antibody encephalitis is a rare disease characterized by subacute memory impairment, behavioral disorders and epileptic seizures. Even most cases have a good outcome, residual cognitive deficits are common. Case report: 76-year-old woman who started with acute onset generalized tonic – clonic seizures and subsequent impaired level of consciousness. Antiepileptic treatment was started with slight clinical improvement. In magnetic resonance imaging performed during admission left hippocampal hyperintensity was seen in T2 and T2-FLAIR sequences. As autoimmune limbic encephalitis was suspected, immunomodulatory treatment with intravenous corticosteroids and immunoglobulins was started with clinical improvement. Afterwards, anti –LGI1 antibodies were positive in cerebrospinal fluid testing. Conclusions: anti – LGI1 antibody related encephalitis can produce different neurological manifestations and diverse onset, even acute. Early immunomodulatory treatment is important to improve both clinical manifestations and long – term outcome.
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Disfunción Mioneural Periférica Como Único Elemento Para el Diagnóstico de la Distrofia Miotónica Tipo I. Myoneural Disfunction For The Diagnosis Of Myotonic Dystrophy Type I
Myotonic dystrophy type 1, also known as Steinert’s disease, is a mulsystemic disorder that primarily affects the skeletal and smooth muscle, as well as the eye, heart, endocrine system and central nervous system. This pathology is uncommon and is characterized by generalized myotonia and multiorgan damage. Its clinical expression is variable, but in most cases, there is a variable degree of muscle weakness, cardiac arrhythmias and other conduction disorders, endocrine disorders, sleep disorders, cataracts and baldness. This is a hereditary disease with three recognizable phenotypes: mild, classic and congenital. Depending on the presentation, it may show poor prognosis and a usually rapid progression, which lacks of effective treatment. Case presentation: 54-year-old female patient who enters the Traumatology service of San Vicente de Paul Hospital in Ibarra, Ecuador for presenting a left femur fracture resulting from a fall of her own height. During hospitalization, the patient presented with type II respiratory failure without apparent cause, so she was admitted to the ICU for ventilatory support. The patient had difficulty achieving ventilatory weaning due to distal and proximal muscle weakness. Electromyography reveals a myopathic pattern compatible with the diagnosis of myotonic dystrophy type I. A tracheotomy was performed, and she was discharged for follow-up by the Internal Medicine service. The performance of a molecular diagnostic study was suggested. Conclusions: The molecular study is the diagnostic gold standard to determine with certainty the presence of myotonic dystrophy type I, besides allowing to determine its severity depending on the number of repeated. However, resource limitations in the present case forced evidence to be sought for diagnosis through electromyography. The treatment remains symptomatic. Because of its inheritance pattern being autosomal dominant, due to the expansion of trinucleotides, family members must be evaluated because they may have the diagnosis even though asymptomatic.
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Imitador de Ictus Debido a Trombosis Venosa Cerebral. Stroke Mimic Due To Cerebral Venous Thrombosis
Introduction: A stroke mimic is any non-vascular pathology that presents as an acute ischemic stroke. The clinical presentation, the epidemiological factors, the time to onset, vascular distribution and the availability of imaging tests are factors that help to differentiate them. Case report: We present a case, of a woman of the third age who was taken to the emergency department due to a five-hour history of left hemiparesis. The clinical evolution and the supplementary tests allowed to exclude the diagnosis of acute ischemic stroke. The semiology was explained by a prolonged Todd’s palsy that behaved as a stroke mimic at the acute phase and the seizures occurred in the context of a cerebral venous thrombosis. Comments: Stroke mimics, in contrast to acute ischemic stroke, occur in younger patients, have fewer vascular risk factors, lower NIHSS score, less aphasia and dysphagia. The main causes are seizures and syncope. Migraines, neoplasms, toxic or metabolic alterations, encephalopathies and functional disorders should also be considered. To perform a complete neurovascular study and directed tests will allow us to make the diagnosis.
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Síndrome de Embolia Grasa Postraumática, Síntomas Neurológicos Sin Clínica Respiratoria en Ausencia de Foramen Oval Permeable. Posttraumatic Fat Embolism Syndrome, Neurological Symptoms Without Respiratory Symptoms In The Absence Of Permeable Foramen Ovale.
Fat embolism syndrome is a potentially catastrophic complication of long-bone fractures. The classic triad of symptoms are petechial skin rashes, hypoxemia, and neurological abnormalities, which usually occur within 24 to 72 hours after the fracture. The respiratory component occurs in practically all of the reports. We present the case of a patient with post traumatic fat embolism with predominant neurological symptoms, without respiratory involvement in the absence of patent foramen ovale.
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Síndrome de Fahr Secundario a Hiperparatiroidismo Primario e Isquemia Cerebral: A Propósito de un Caso. Fahr Syndrome Secondary To Primary Hyperparathyroidism And Cerebral Ischemia: A Case Report.
Fahr’s syndrome (FS) is a rare neurodegenerative condition, characterized by cerebral calcifications mainly in the basal ganglia. Although its most common presentation are the disorders of movement, cognition, behavior and epilepsy, in recent years cases of cerebrovascular disease (CVD) related to this entity have been appearing.
We report a 59-year-old male patient who presented 2 transitory ischemic attacks (TIAs), the 1st of 5 minutes, of speech alteration what happened unnoticed, and the second of 45 minutes, 2 weeks later, of speech alteration, loss of muscle strength and tingling sensation in the left side of the body. Brain computed tomography and magnetic resonance imaging revealed calcifications suggestive of FS and a treatable cause was found (primary hyperparathyroidism with hypovitaminosis D). The patient was treated with aspirin, atorvastatin and colecalciferol without vascular recurrence and the levels of vitamin D and PTH normalized. Although the association between CVD in young people and SF has not yet been determined, the occurrence of these cases leads us to suspect that ischemic CVD could be part of the natural history of this entity. Being the prevalence of FS unknown, we alert clinicians to keep CVD in mind as a form of presentation of this condition. We review the association between FS and ischemic CVD (without in clusion of aneurysmal disease).
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Estimulación Magnética Transcraneal “Theta-Burst Intermitente” en un Paciente con Trastorno del Espectro Autista: Reporte de un Caso. Transcranial Magnetic Stimulation “Theta-Burst Intermittent” In A Patient With Autism Spectrum Disorder: Case Report.
Background. Transcranial magnetic stimulation (TMS) is a potential treatment option for autism spectrum disorder (ASD) symptomatology.
Objectives. To determine the efficacy of the TMS intermittent theta-burst stimulation (iTBS) protocol over the left dorsolateral prefrontal cortex (DLPFC) in the management of pathological behaviors associated with ASD.
Patient/Methods. A 10-year-old male diagnosed with ASD by the Autism Diagnostic Observation Schedule (ADOS) presented with a family history of ASD with a younger sister diagnosed with the same disorder. Both magnetic resonance imaging (MRI) and functional MRI (fMRI) scans for emotional paradigms were performed before the iTBS treatment, immediately after the iTBS treatment, and after 6 months of iTBS treatment.
Results. The Autism Treatment Evaluation Checklist (ATEC) reports revealed improvement in communication, cognition, sociability, and behavior scales by 83%, 81%, 72%, and 52%, respectively. The overall score improved by 66% immediately after the treatment and by 55% lasting over a 6-month period. The fMRI revealed the activation of the frontal, parietal, and occipital cortex before iTBS treatment, and a better integration and activation of the frontal, temporal, and occipital cortex after iTBS treatment and persisted after 6 months.
Conclusions. iTBS is a well-tolerated, non-invasive neuromodulation technique that requires relatively less administration than the standard treatment.
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Agenesia de la Arteria Carótida Interna: Presentación de dos Casos y Revisión de la Literatura. Agenesis Of The Internal Carotid Artery: Presentation Of Two Cases And Review Of The Literature.
Introduction: Two cases of patients with left internal carotid artery agenesis are presented, the first case with symptoms of open angle glaucoma and ipsilateral cataract and the second case of a patient with tension headache, as well as a review of the literature due to the Low frequency of this development anomaly.
Clinical cases: case 1, A 66-year-old woman with visual disorders associated with cataract and glaucoma in whom, due to suspicion of a carotid fistula, a left internal carotid agenesis was documented, with collaterality through the posterior system, case 2, patient A 58-year-old man with tension headache underwent an MRI where the agenesis of the left carotid artery, segments from C3 to C7, was documented.
Conclusion: Abnormalities in the development of the carotid system occur early in embryogenesis. In relation to the moment in which the alteration occurs, different circulatory patterns have been described. It is possible that the presence of collateral circulation is the reason that the majority of cases are reported asymptomatic from the vascular neurological point of view. Despite being a rare entity, it must be known in order to differentiate it from other conditions and monitor the appearance of associated complications.
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Meningioma Intraventricular. Intraventricular Meningioma.
Intraventricular meningioma is an infrequent disorder. We report a case of a 20 years old woman with a clinical picture of headache, nausea, vomiting and gait disorder. Intraventricular meningioma was diagnosed with magnetic resonance and histopathology. A transcortical right parietal surgical approach was performed through ventricular trigone. The procedure was done without complications or sequelae.
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Temblor Mentoniano: Reporte de un Caso Aislado. Chin Tremor: Report of an Isolated Case.
Chin tremor or geniospasm is an involuntary, rhythmic, autosomal dominant hereditary movement disorder, triggered by stress or emotional situations. Registered for the first time in 1894, in Italy.
We report a 4-year-old girl with mental tremor from one year of age, with no previous inheritance, with a successful response to the use of Botulinum Toxin.
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Hiperlisinemia Como Hallazgo Sugestivo de Acidemia Propiónica. Reporte de Caso. Hyperlisinemia As A Suggestive Finding Of Propionic Acidemia. Case Report.
Introduction. Propionic acidemia (AP) is an organic acidemia (AO) with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids.
Clinical case. Female newborn (RN) admitted in the neonatal unit on the third day of life due to hypoactivity, vomiting and lethargy. Subsequent respiratory distress and cardiac arrest occurred, dying before a biochemical diagnosis was established. Initial paraclinics evidenced metabolic acidosis, leukopenia, hypoglycemia, later documented hyperglycinemia, hypercystinemia and severe hyperlysinemia. The organic acid chromatography in urine identified 3-hydroxy-propionic acid, methyl citrate and propionylglycine among other toxic metabolites, confirming the diagnosis.
Conclusions. AP is an inborn error of autosomal recessive metabolism of low incidence. The presence of severe metabolic acidosis, pancytopenia, hypoglycemia and family history should alert about this diagnosis. Additionally, although the definitive biochemical diagnosis is organic acids in urine, the presence of hyperammonemia, hyperglycinemia and hyperlysinemia can be highly suggestive of this disorder.
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Complejo Esclerosis Tuberosa Atípico Con Espasmos Epilépticos de Inicio Tardío: Diagnóstico Complejo Por Telemedicina En Una Comunidad Rural de Honduras. Atypical Tuberous Sclerosis Complex With Late Onset Epileptic Spasms: Complex Diagnosis by Telemedicine in a Rural Community of Honduras.
Tuberous sclerosis complex (TSC) is an uncommon neurocutaneous disease often underdiagnosed in remote areas where specialists in neurology are usually not available. A 22 month-old girl was taken to a clinic in a rural village presenting refractory epilepsy of undetermined cause that started at 18 months of age with upward eye deviation episodes and epileptic extensor spasms. She also presented perinasal angiofibromas and hypomelanotic skin lesions in trunk. The interictal encephalogram done in the community showed multifocal and generalized epileptic activity. The girl had been taken to the city for a brain magnetic resonance, which revealed multifocal subcortical hyperintensities and subependymal nodules. By teleconsult between community doctors and national and international specialists, atypical TSC with late onset epileptic spasms was diagnosed. The recommended treatment resulted in controlled seizures, and a follow-up plan was established. This case illustrates that telemedicine units in rural areas are a technological option to provi de access to specialized epilepsy care.
