Inflammatory demyelinating diseases comprise a series of autoimmune disorders affecting myelin at the level of the central nervous system (CNS) and peripheral nervous system. They can be monophasic, multiphasic, progressive, monofocal or multifocal, and their diagnosis is usually of exclusion. We report the case of a 15-year-old female patient with headache, ataxia, hemiparesis, ophthalmoplegia and altered consciousness. Magnetic resonance imaging showed lesions compatible with demyelinating disease. Acute disseminated encephalomyelitis was diagnosed. The patient responded to treatment with corticosteroids.
Reportes de Casos Clínicos
Desmielinización del Sistema Nervioso Central Asociado a Encefalomielitis Diseminada Aguda: Reporte de un Caso. Demyelination Of Central Nervous System Associated With Acute Disseminated Encephalomyelitis: Case Report.
Palabras clave: encefalomielitis diseminada aguda,
Enfermedad desmielinizante,
Síndrome de Locked-In: Reporte de Caso y Revisión de Literatura. Locked-In Syndrome: Case Report And Review Of Literature.
Locked-In Syndrome, also known as Enclaustration, Deseferentization, or Enclosure Syndrome, was first defined in 1966 by Plum and Posner. Causes can be grouped into vascular and non-vascular, the former being the most frequent. Clinically this syndrome is characterized by consciousness and the state of watch conserved, but there is quadriplegia, anartria, dysphagia and difficulty to coordinate the ventilatory mechanics, representing pulmonary complications the main cause of death. In most cases, the patient retains vertical eye mobility, so the only method of communication is through eye blinking and vertical eye movements. Next, a case presentation and review of the literature with the most relevant pathophysiological, clinical, diagnostic and therapeutic aspects is done.
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Palabras clave: conciencia,
protuberancia,
síndrome de enclaustramiento,
Síndrome Locked-In,
sistema vertebrobasilar,
Foramen Oval Permeable, un Diagnóstico Posible en Manos del Neurólogo. Descripción de Caso. Patent Foramen Ovale, A Possible Diagnosis From The Neurologist. Case Report.
Introduction: A high prevalence of atrial septal defects is reported in patients with cryptogenic ischemic stroke, also related to an increase of the risk of recurrence. Objective: To report case of a young patient with a history of diabetes mellitus and ischemic stroke without arterial changes proven. A transcraneal Doppler study with a bubble test helped to diagnose a patent foramen ovale. Conclusion: As part of the initial evaluation of this patient, a TCD study has helped to clarify the stroke etiology. The demonstration of a patent foramen ovale has implications fo r the secondary prevention of stroke.
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Hemorragia Talámica Bilateral. Bilateral Thalamic Hemorrhage.
Thalamic hemorrhages represent a small group of cerebrovascular diseases of which only 0.7-3% is manifested bilaterally, being chronic hypertension the key factor for its development. We report a case of a 45-year-old patient with 10-years history of arterial hypertension who presented with brachiocrural motor deterioration accompanied by dysarthria, dyspnea, vomiting in number of two, with increased basal blood pressure. Neurimaging demostrated a bilateral thalamic hematoma.
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Palabras clave: bilateral,
Eventos cerebrovasculares,
Hemorragia talámica,
hipertensión arterial crónica,
Evolución Natural de la Siringomielia: Presentación de un Caso. Natural Evolution Of Syringomyelia: Case Report.
Syringomyelia is a chronic degenerative and progressive disease of the spinal cord characterized by a dissociated loss of brachial sensitivity and amyotrophy, with evidence of centromedullary cavitation.
We report the case of a 62-year-old female patient with syringomyelia associated with Arnold Chiari malformation (type 1) who spontaneously rejected any surgical intervention five years after her diagnosis, which has been followed up for 21 years. Magnetic resonance imaging demonstrates the natural evolution of syringomyelia from 1998 to the present.
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Síndrome de Encefalopatía Posterior Reversible (PRES). Posterior Reversible Encephalopathy Syndrome.
Palabras clave: neurología,
patologias neurologicas,
Síndrome de Guillain-Barré: Un Caso Atípico
Guillain Barre Syndrome (GBS), is an acute inflammatory polyneuropathy, of autoimmune etiology that produces an inflammation in the peripheral nerves and its spinal roots. GBS generally presents as flaccid, symmetric, ascendent and areflexic palsy, along with a previous respiratory or gastrointestinal infection. It has been reported atypical forms of presentation. We describe the case of a 53 years old male patient, without previous infections in the last months, who is admitted to the emergency department presenting walking difficulties due to decreased muscle strength, pain and numbness in the lower limbs, deep tendon reflexes present, followed few days later by a right peripheral facial palsy. Examination of cerebrospinal fluid (CSF) revealed albumino-cytological dissociation, leading to diagnose GBS of atypical presentation, which was treated with intravenous immunoglobulin followed by a favorable outcome.
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Parkinsonismo y Mielinolisis Osmótica. Descripción de caso
Introduction: Osmotic demyelination syndrome is a rare medical condition in which parkinsonian signs are relatively non frequent. Objective: To report a case of a patient with hyponatremia rapidly corrected and treated with neuroleptics. The cranial MRI showed demyelinating lesions in pons and basal ganglia. The patient clinically developed parkinsonism, with no response to dopamine. Conclusion: The inadequate correction of hyponatremia causes demyelinating lesions. As we appreciate in this case, the prescription of neuroleptic drugs may negatively affect the response to dopaminergic therapy.
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Tuberculous Encephalitis Associated With Basal Ganglia Lesions And Movement Disorders
An increasing number of autoimmune disorders with predominant involvement of the basal ganglia which result in movement disorders and psychiatric symptoms have been described. We report a 26 year old patient who, three weeks after initiation of treatment for tuberculous meningitis, presented with acute right hemichorea-ballism and confusion One week later the patient presented acute left hemiparkinsonism. The CSF showed oligoclonal bands. The MRI showed bilateral lesions in the basal ganglia in the T1W and FLAIR sequences. Antituberculous therapy with concomitant steroids and L dopa treatment ,resulted in clinical improvement .To our knowledge this is the first report of tuberculous encephalopathy associated with involvement of the basal ganglia and movement disorders.This case suggests involvement of the basal ganglia through an immune mediated pathogenesis.
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Palabras clave: corea,
encefalitis tuberculosa,
lesión de ganglios basales,
parkinsonismo,
patogénesis,
Mielinólisis Extrapontina Secundaria a Hiponatremia por Crisis Adrenal
Introduction: Extrapontine myelinolysis is an acute unusual process, included in demyelinating syndromes of metabolic etiology, which differentiate from central pontine myelinolysis, by affecting other brain areas with clinical manifestation such as dystonia, catatonia, postural tremor, myoclonic spasm, parkinsonism or pyramidal sings.
Objective: Present clinical, electrolytic, hormonal and neuroradiologic findings with emphasis in the unusual location of this disease.
Conclusion: Unlike central pontine myelinolysis, extrapontine has a lower incidence. Trismus, manifested in this patient is an unusual sign. The treatment is only supportive, with a high probability of mortality.
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Palabras clave: Hiponatremia,
mielinólisis extrapontina,
síndrome de desmielinización osmótica,
trismo,
Disappearing Cerebral Microbleed After A Lacunar Infarct
Both, lacunar infarcts and deep cerebral microbleeds are recognized markers of cerebral small vessel disease. However, the “de novo” appearance of an infarct at the site of a previously documented microbleeds has not been described. Here, we report a patient who suffered a lacunar infarct at the site of a microbleed, associated with its disappearing on MRI. This case illustrate a previously unrecognized progression of a cerebral microbleed, which may help to elucidate pathogenetic mechanisms involved in this uncommon evolution.
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“Brain Holes.” A Diagnostic Challenge In Cysticercosis-Endemic Areas.
The introduction of modern neuroimaging and immunologic techniques has increased the diagnostic accuracy for neurocysticercosis.
However, there are some conditions that mimic neurocysticercosis by the time of the initial evaluation of the patient. We present six patients with a single abnormally dilated perivascular Virchow-Robin space mimicking a cysticercus.
In such cases, administration of repeated trials of cysticidal drugs together with long-term follow-up observation, excluded the diagnosis of neurocysticercosis. Physicians working in cysticercosis-endemic areas must keep in mind the possible occurrence of a single dilated perivascular space, to avoid the practice of unnecessary invasive procedures in patients with “cysticerci-like” lesions that do not change after several courses of cysticidal drug therapy.
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Epilepsia Benigna Occipital tipo Panayiotopoulos y Epilepsia Benigna con espigas centrotemporales concomitantemente en el mismo paciente.
The Panayiotopoulos type benign childhood occipital epilepsy, (PBCOE) and the benign childhood occipital epilepsy with centro-temporal spikes (BCECT) are two forms of focal idiopathic epilepsy recognized by the International League Against Epilepsy. Several authors have reported that some patients with PBCOE evolve later in life toward a BCECT, remarking the fact of the morphological similarities of their paroxysms and the spikes migration phenomena. However, few cases of patients with PBCOE have been described concomitantly clinical characteristics of a BCECT in the same evolving process. One clinical case with the mentioned concomitant manifestation is shown, analyzing its clinical characteristics, differential diagnosis and treatment. Finally it is postulated that the PBCOE could be an early form of the BCECT
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Resolución clínica de un hematoma subdural crónico en un niño con quiste aracnoideo conocido.
Chronic subdural haematoma is a well-known and relatively frequent entity in the elderly. It is originated by a slight trauma which provokes subdural veins to rupture after suffering stretching due to cortical atrophy.
We report the case of a 11 year old patient with a previous known arachnoid cyst who was diagnosed as chronic subdural haematoma without association to cranial trauma and with slight neurological impairment. He responded successfully to pharmacological therapy. The following clinical case permits review pathophysiology of chronic subdural haematoma and considers subarachnoid cyst as a risk factor.
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Esclerosis Lateral Amiotrófica Secundaria a Infección por VIH.
Motor neuron diseases are not frequently associated to Human Immunodeficiency Virus (HIV) infection, although some reports have mentioned this relationship, suspecting a viral involvement in the pathogenesis of this disease. A 43-years-old male with HIV diagnosis is described, who started with progressive weakness of his legs, showing further worsening 6 months later, with upper extremity and bulbar involvement. Neurophysiological studies demonstrated upper and lower motor neuron compromise in all the extremities and bulbar muscles. Other causes were ruled out. Auto-antibodies against Human Herpes Virus type 8 were positive for IgG. There were no anomalies on image studies. A change in the antiviral scheme stopped temporarily the progression of the clinical features. However, posterior withdrawal of medications due to toxic hepatitis led to worsening of signs and symptoms. This case, among the previously reported worldwide, suggests that the association between motor neuron diseases and HIV is not coincidental, this must raise suspicion in every subject with risk factors for HIV and coexistent motor neuron disease.
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Síndrome de Guillain Barré imitando Muerte Encefálica.
Guillain Barré Syndrome is a neurological disease frequently admitted to the Intensive Care Unit, especially if there is associated hemodynamic or ventilatory compromise. Brain death is the irreversible cessation of all functions of Central Nervous System, and rarely, Guillain Barré Syndrome can mimick it, with subsequent recovery in the next few days or weeks. We report a case admitted to the Intensive Care Unit, with this type of evolution.
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Síndrome de Tolosa-Hunt: Hallazgos en Resonancia Magnética Cerebral antes y después del tratamiento con Terapia Corticoidal Sistémica.
Tolosa-Hunt syndrome is characterized by painful ophthalmoplegia due to a granulomatous inflammation in the cavernous sinus. Corticosteroid therapy dramatically resolves both clinical and radiological findings. We report a case of a patient 55 years old, initially managed as cavernous sinus thrombophlebitis, and by means of magnetic resonance imaging studies, was then diagnosed as Tolosa-Hunt syndrome. After receiving adequate therapy, clinical symptoms improved. We recommend serial magnetic resonance imaging studies when Tolosa-Hunt syndrome is suspected in order to differentiate it from other cavernous sinus lesions that can mimic it clinically and radiologically.
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Una propuesta para la evaluación de la Prueba de Wada en pacientes analfabetos: Presentación de un caso.
In the preoperative neuropsychological evaluation of certain patients with epilepsy it is important to determine the hemispheric dominance; particularly in those of doubtful laterality, due to the high postoperative risks of affectation of the language and the memory. The test of Wada allows guiding the neurosurgeon about the possible impact of the surgical procedure in the hemispheric areas related to the language and the memory. Although it is well-known that the execution in diagnostic neuropsychological tests is under the influence of an important series of variables, as the culture and the educational level, until now there are not specific protocols for this kind of exploration in illiterate patients. In this study we describe the experience in the test of WADA of an illiterate patient with epilepsy diagnosis and cerebral congenital left hemiatrophy, of left-handed manual laterality. With base in the protocol of Trenerry and Loring the language tasks and memory were implemented according to the patient’s cultural context. It was found a right hemispheric representation for the language and the memory. These results confirm the effects of the cerebral plasticity in the reorganization and /or compensation of the cognitive functions, as the language and the memory in the cerebral hemisphere not affected.
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Palabras clave: Dominancia hemisférica,
Epilepsia,
Lenguaje,
Memoria,
Plasticidad cerebral,
Prueba de Wada,
Enfermedad de Lafora: Diagnóstico histopatológico de un caso por biopsia de piel.
Lafora disease constitutes one of the most common types of progressive myoclonic epilepsy in South Europe, especially in Spain. Its onset is between 10 and 18 years old, with myoclonus which can be segmentary, erratic, intentional and associated frequently with focal occipital seizures. There could also be primary or secondary generalized tonic-clonic seizures. A progressive dementia is evident as is the presence of intra citoplasmic inclusion bodies (Lafora bodies) in neurons and other glucose consuming body cells. The diagnosis can be done by identifying Lafora bodies in the sweat glands of the underarm skin. There are two genes fundamentally implicated in this disease: the EPM2A in 6q24 and the EPM2B in 6p22. We present, to our knowledge, the first documented case in Ecuador, diagnosed by histopathological material obtained by skin biopsy, and analyze its clinical, electroencephalographic and evolving characteristics. Patient’s family tree is analyzed in detail and an exhaustive literature update related with this disease is performed.
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Ependimoma Mixopapilar Extradural Subcutáneo simulando un Quiste Pilonidal.
Objective: To describe a case of a subcutaneous, extradural, retro sacral, myxopapillary ependymoma which presented as a pilonidal cyst.
Case description: A 6-year old boy presented with a painful intergluteal mass. The histopathologic examination revealed an ependymal neoplasm with conspicuous myxopapillary appearance.
Conclusion: These tumors are extremely unusual in extradural locations, and their biological behavior is more aggressive than those cases of similar histogenesis localized in the conus medullaris-filum terminale region.
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Enfermedad Celiaca. Alteraciones Neurológicas y Enteropatía Asociada a Linfoma de Células T.
In celiac disease, gluten ingestion results in intestinal mucosal swelling, cryptic hyperplasia, and villi atrophy in genetically predisposed individuals. We report an unusual case of celiac disease, neurological complications and enteropathy associated T cell lymphoma in the same patient.
Case report: A 49 year-old woman with celiac disease who failed to respond to a strict free-gluten diet. She developed intestinal perforation, T cell lymphoma associated to enteropathy and neurological features.
Conclusion: An uncommon case of celiac disease with associated neurological manifestations and malignancy. In a single patient, this uncommon association has not been reported. It is still to be determined, whether genetic and/or immunological factors are responsible for the development of this features.
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Meningioma Quístico: Reporte de Caso y Revisión de Literatura.
Cystic meningiomas are uncommon tumors easily confused as cystic-component glial tumors or metastases. There is controversy regarding about cyst wall origin. Magnetic resonance has improved diagnosis showing dural adhesion of the tumor. We report a case of a patient diagnosed with a cystic meningioma tumor, treated in our neurosurgical service.
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Hipoplasia-agenesia de la arteria carótida interna.
Hypoplasia of the internal carotid artery is an infrequent congenital anomaly, rarely reported by medical literature. We report a case of stroke in the left medium cerebral artery territory, in which an agenesia-hypoplasia of the right carotid artery was diagnosed. After performing a doppler echography, the following findings led to suspect it: a significant difference between the flow speeds of the internal carotid arteries through continuous doppler study on the hypoplastic side through the submandibular window; an early disappearance of the spectrum; and the persistence of an invariable blood flow in the medium cerebral artery on the hypoplastic side when compressing the common carotid artery. With the study of the multi-slice helicoidal computerized tomography, the diagnosis was confirmed corroborating the existence of hypoplasia of the carotid hole in the skull base. Agenesia was also found in the distal portion of the internal carotid artery. The left medium cerebral artery was supplied by the basilar artery through the posterior communicating artery. The relationship with the stroke seems to be casual as shown by the characteristics of neuroimaging.
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Trombosis Venosa Cerebral en una Paciente con Enfermedad de Hodgkin y Embarazo: Presentación de Caso Clínico y Revisión de la Literatura.
Cerebral venous thrombosis is an uncommon problem with serious medical consequences. It presents with a wide range of signs and symptoms as any cerebral syndrome where neuroimaging plays a key role. Among the conditions that produce or predispose to venous thrombosis are hypercoagulable states, inherited or acquired. We report a case where the association of pregnancy and malignancy (Non-Hodgkin Lymphoma) induced the development of cerebral venous sinus thrombosis.
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Síndromes de Apert y Pfeiffer 2: Una aproximación diagnóstica.
Apert and Pfeiffer type 2 syndromes are low-prevalence genetic anomalies produced by a mutation in genes that codify the receptors of the fibroblastic growth factor. They are characteristic in presenting coronal craniosynostosis and syndactyly. Clinically, they are differentiated by moderate to severe mental retardation, polydactyly, and poor prognosis, typical of the Pfeiffer-type 2 syndrome; while in Apert’s syndrome mental retardation is mild and occasional, there is no polydactyly and has a better prognosis. It is not easy to differentiate clinically these two syndromes. We report a case of Apert syndrome and a case of Pfeiffer-type 2 syndrome, each with typical clinical characteristics. Furthermore, a review on the physiopathology and the phenotypical characteristics of these two syndromes, is performed.
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Palabras clave: Acrocefalosindactilia,
ACS1,
ACS5 Noak,
Apert,
Cefalodactilia,
FGFR2,
Pfeiffer,
Vogt,
Keywords: Acrocephalosyndactyly type 1,
ACS1,
ACS5 Noak,
Apert,
Cephalodactyly,
FGFR2,
Pfeiffer,
Vogt,
Diagnóstico prenatal enzimático de Enfermedades Lisosomales en Cuba.
In our country the prenatal diagnosis of lysosomal diseases with enzymatic techniques has been conducted since 1988. This paper describes 12 clinical cases of prenatal diagnosis in 11 couples who were known carriers of lysosomal diseases, all with affected and/or deceased children. Mothers underwent amniocentesis between 16-20 weeks of pregnancy, and samples were simultaneously processed with a control of the same gestational age. Amniocytes were cultured during 18 days, after which the enzymatic activities of α-L-iduronidase (for the MPS I case), arylsulphatase B (for MPS VI cases), α-L-fucosidase (for fucosidosis cases), β-galactosidase (for GM-1 gangliosidosis cases), β-glucosidase (for Gaucher cases), hexosaminidase A (for the Tay-Sachs case) and sphyngomyelinase (for the Niemann Pick case) were quantified. All 12 prenatal diagnoses were negative for the corresponding lysosomal disease and all pregnancies ended in a healthy newborn and in children with normal living. We concluded that prenatal enzymatic diagnosis was useful for defining the possible affection of the fetus and contributed to support genetic counseling for lysosomal diseases, although it does not rule out the need for molecular biology in doubtful cases.
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Trombosis Venosa Cerebral en una paciente con Linfoma no Hodgkin en remisión.
Introduction: Cerebral venous thrombosis is an unusual complication, scarcely reported in patients with non-Hodgkin lymphoma with indolent and not too aggressive type.
Case report: We describe the clinical picture of a woman with low degree non-Hodgkin lymphoma with an evolution of one year remission post treatment, who developed a sinus rectus thrombosis without relationship with intracranial extension nor treatment induced hypercoagulability state. The first manifestation was isolated migraine.
Conclusion: In patients with non-Hodgkin lymphoma and isolated migraine is important to perform neuroimaging studies in order to exclude a cerebral venous thrombosis.
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Hemangioblastoma de fosa posterior asociado a enfermedad de Von Hippel Lindau.
Hemangioblastomas are benign tumors with a cystic appearance. They represent between 1-2% of tumors affecting the nervous system and between 8-12% of all expanding processes of the posterior fossa in adults. Hemangioblastomas are characteristically found in young adults and have a peak incidence in the fourth decade of life. They are associated with Von Hippel Lindau (VHL) disease, an autosomic dominant trait with incomplete penetrance. We report a case of a 33 years old female with no significant family history, the past medical history was significant for ventriculoperitoneal shunting due to hydrocephalus secondary to reactive gliosis of the posterior fossa.
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Tratamiento del Temblor Esencial mediante Talamotomía Estereotáxica.
Essential tremor is characterized by its low frequency, mainly affecting upper extremities and less frequently lower limbs and head. The origin of this disease is not well known, but it has been described in familiar forms as an autosomic dominant hereditary transmission pattern. We report three patients with essential tremor refractory to pharmacotherapy who underwent stereotactic thalamotomy of the ventrolateral nucleus. In all cases the procedure was unilateral. In two patients, the tremor completely remitted and in one patient the tremor decreased more than 50%. Tremor was defined by the Unified Parkinson’s scale. There were no complications related to surgery. We conclude that stereotactic ventrolateral nucleus thalamotomy can be of benefit in patients with essential tremor due to its low morbidity in selected patients.
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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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Palabras clave: Biopsia Hepática,
Convulsión,
Disautonomía,
Epilepsia,
Porfiria Aguda Intermitente,
Porfirinas,
