Papers by maria jose Elso
Andes Pediatrica
Objetivo: Describir presencia de síndrome de apneas e hipopneas obstructivas del sueño (SAHOS) ... more Objetivo: Describir presencia de síndrome de apneas e hipopneas obstructivas del sueño (SAHOS) en niños con alteraciones craneofaciales (ACF), asociar características biodemográficas y variables poligráficas, y analizar la conducta terapéutica decidida luego del estudio de sueño y la evaluación de un equipo multidisciplinario. Pacientes y Método: Estudio retrospectivo. Poligrafías realizadas a pacientes entre 1 mes y 19 años con ACF. Se estableció una conducta inicial y proyectada, categorizada en asistencia ventilatoria, traqueostomía, quirúrgico, odontológico y médico. Se realizó estadística descriptiva e inferencial, evaluando asociación entre variables demográficas, poligráficas y conductas terapéuticas. Resultados: Se incluyeron 34 pacientes, mediana de edad 4,0 años (RIQ 0,9-6,5). El 41,2% tenía Fisuras Labiopalatinas, 35,3% Craneosinostosis y 23,5% Micrognatia. El 70,6% de las poligrafías estaban alteradas, de estas, el 26,5% se diagnosticó como SAH...
Revista chilena de pediatría, 2013
Este trabajo cumple con los requisitos sobre consentimiento /asentimiento informado, comité de ét... more Este trabajo cumple con los requisitos sobre consentimiento /asentimiento informado, comité de ética, financiamiento, estudios animales y sobre la ausencia de conflictos de intereses según corresponda.
Revista chilena de neuro-psiquiatría, 2009
Introducción a encefalopatía hipóxico-isquémica retardada (EIHR) se presenta como una enfermedad ... more Introducción a encefalopatía hipóxico-isquémica retardada (EIHR) se presenta como una enfermedad desmielinizante del sistema nervioso central (SNC). Aparece como consecuencia de la hipoxia,
Revista chilena de neuro-psiquiatría, 2008
Lance-Adams syndrome was described in 1963 is a rare complication due to recovered hypoxic episod... more Lance-Adams syndrome was described in 1963 is a rare complication due to recovered hypoxic episodes or prolonged hypotension events. Is characterized by action myoclonus and cerebellar ataxia. We report two patients studied with this syndrome. A 51 year-old men and a 72 yearsold men fully recovered after a brief cardiorespiratory arrest they developed intention myoclonus, triggered by voluntary movements, posture, also by sounds, touches and emotional stimuli. It also was accompanied by cerebellar syndrome, ataxia and posture control alterations. They had a Magnetic Resonance (MR), EEG and normal metabolic parameters. Myoclonus was treated with sodium valproate and clonazepam. The neurophysiologic interpretation of this motor imbalance is an abnormal functioning of the Central Pattern Generator Netwoks (CPGN) located in the mesencephalic region. Hypoxic lesions in vermian purkinje and paravermal cerebellum neurons have an inhibitory effect in this system, producing motor control attenuation, generating an imbalance in the motoneurons of the spinal cord contraction sequence, which starts shooting in an uncoordinated way. As in almost all cerebellar lesions with time they tend to compensate and to diminish myoclonus.
Sleep Medicine, 2014
Objectives: We aimed to describe a group of adults diagnosed with sleep-related eating disorder (... more Objectives: We aimed to describe a group of adults diagnosed with sleep-related eating disorder (SRED) at the Sleep Medicine Center of the Pontificia Universidad Catolica de Chile. Methods: We performed a descriptive study of 34 consecutive patients who met the criteria of the International Classification of Sleep Disorders for SRED evaluated during a 3-year period who did not have an eating disorder according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, fourth edition. All patients had a structured clinical interview performed by a sleep specialist and completed the Beck Depression Inventory (BDI). Polysomnography (PSG) was performed when clinically indicated for ruling out other sleep-related disorders (18 patients; 52.9%). Patients' demographic and clinical data, comorbidities, and treatment response also were analyzed. Results: Most patients were women (n = 23; 67.6%). The average age at the time of diagnosis was 39 ± 13.8 (17-67 years) and the latency since symptom onset was 8.3 ± 8.8 years. Most patients had several episodes per night (average, 2.6 ± 1.6; 1-8) and all except one patient had partial or total amnesia of these events (n = 33; 97%). Comorbidities were frequent and included insomnia (n = 20; 58.8%), restless legs syndrome (RLS) (n = 16; 47%), sleep-disordered breathing (SDB) (n = 9; 26%), psychiatric disorders (n = 13; 38.2%), and overweight or obesity (n = 14; 41.1%). Most patients were hypnotic users (n = 21; 61.7%) and reported weight-centered anxiety (n = 23; 67.6%). Twenty patients (58.8%) were treated with topiramate, 17 of whom had adequate symptomatic responses. Conclusion: Our SRED patients showed female preponderance, amnesia during the episodes, association with other sleep disorders, use of hypnotics, weight-centered anxiety, and positive response to topiramate. The presence of anxiety focused on weight in most patients may be an important element in the emergence of this behavior during sleep.
Revista chilena de neuro-psiquiatría, 2008
Clinically Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy (... more Clinically Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy (PME). It develops due to mutations in gene that encodes laforin or malin, which may be involved in regulating the glycogen metabolism. Pathognomonic Lafora bodies are composed by dense aggregates of polyglucosans inclusions, found in brain and other organs. We describe 18 year old female with family history of myoclonic epilepsy. She developed worsening myoclonic seizures with correlative electroencephalogram abnormalities and a progressive mental deterioration. Diagnosis was confirmed with periodic acid-schiff (PAS) positive lafora bodies and ubiquitin-positive inmunohistochemical stain, which helped to distinguish from other PAS positive inclusions. This is the first case describe of Lafora disease in Chile.
Revista chilena de neuro-psiquiatría, 2008
Listeria Monocytogenes is a gram-positive Bacillus that affects immunocompromised patients, newbo... more Listeria Monocytogenes is a gram-positive Bacillus that affects immunocompromised patients, newborn, pregnant women and persons over 65 years. Infection is acquired through contaminated food. The Bacillus has predilection for the central nervous system. Its presents most commonly as an acute meningitis, it also presents as a chronic meningitis, cerebritis, rhomboencephalitis, brain and spinal abscess. Diagnosis for L. monocytogenes is made through positive cultures in blood and cerebrospinal fluid (CSF). Magnetic Resonance (MR) also helps to in the diagnosis of neurolisteriosis lesions. We described seven cases with L. Monocytogenes infection during 2007 and 2008, with four cases over the aged of 65 years old. Five presented acute meningitis; two rhomboencephalitis and one patient had meningoencephalitis. Six cases showed inflammatory CSF with pleocytosis with polymorphonuclear prevail and normal glycorrachia. MR showed inflammatory findings in five patients and focal brainstem lesions in two cases, one had acute hydrocephalus due arachnoiditis. Five patients improve clinically and two fatal cases were described. Listeriosis is the third cause of meningitis and should be consider in the differential diagnosis of meningitis with clear fluid, especially with pleocytosis and normal glycorrachia. Other clues of the diagnosis are dizziness with or without nystagmus and brainstem compromise. Arachnoiditis should be avoided with steroidal use. The diagnostic imaging test of choice for brain stem compromise is MR.
Revista chilena de neuro-psiquiatría, 2008
MELAS is an acronym for the convergence of mitochondrial myopathy, encephalopathy, lactic acidosi... more MELAS is an acronym for the convergence of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes. It was described by Pavlakis et al. in 1984.This is a genetic disease caused by mutations in the maternal mitochondrial genome, affecting the adenosine triphosphate (ATP) synthesis. The mutations have heteroplasmic loads on different tissues, which could specially involve those highly energy-dependent such as muscles, brain and CNS tissues. We describe a 33 year old female presenting migraine headaches associated to strokelike episodes, related to an infection. Neurological manifestations include language and visual disturbances. The magnetic resonance imaging (MRI) showed low-intensity areas, predominantly in the temporal, parietal and occipital left lobes. She further presented a status epilepticus. The complementary study shows elevated basal and post exercise lactic acidosis, ragged red fibers in the muscle biopsy, and the mutation of A3243G in the mitochondrial genome. Her asymptomatic mother and sister showed ragged red fibers in muscle biopsy. The patient showed clinical and radiological features improvement, maintaining non epileptic slow focal occipital discharges in the electroencephalogram. The assumption is that this mitochondrial disorder could be more frequent than detected in our medium, given that a significant number of women could be just asymptomatic bearers (like the patient's mother and sister). This pathology should always be assessed in patients less than 40 years of age with strokes, regardless whether they have family history with the disease.
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Papers by maria jose Elso