RESUMEN
We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.
Asunto(s)
Ataxia/genética , Pérdida Auditiva Sensorineural/genética , Discapacidad Intelectual/genética , Mutación Missense/genética , Canales de Potasio de Rectificación Interna/genética , Convulsiones/genética , Adolescente , Edad de Inicio , Discapacidades del Desarrollo/genética , Femenino , Humanos , Lactante , Masculino , Linaje , Hermanos , Adulto JovenAsunto(s)
Fracturas Óseas/etiología , Cabeza Humeral/lesiones , Convulsiones/complicaciones , Anciano , Anticonvulsivantes/uso terapéutico , Fracturas Óseas/diagnóstico por imagen , Humanos , Cabeza Humeral/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Radiografía , Convulsiones/tratamiento farmacológico , Tomografía Computarizada por Rayos XRESUMEN
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory evaluation revealed hypoalbuminemia, hypercholesterolemia with elevated LDL, elevated IgE levels and normal α fetoprotein levels. Eye movement examination demonstrated a marked saccade initiation defect with profound hypometric horizontal saccades. Vertical saccades were also affected but less so. Also present were conspicuous thrusting head movements when attempting to change gaze, but rather than an apraxia these were an adaptive strategy to take advantage of an intact vestibulo-ocular reflex to carry the eyes to a new target of interest. This is demonstrated in accompanying videos.
Asunto(s)
Enzimas Reparadoras del ADN/genética , Mutación , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Ataxias Espinocerebelosas/congénito , Adolescente , Adulto , Femenino , Homocigoto , Humanos , Masculino , Fenotipo , Pronóstico , Hermanos , Ataxias Espinocerebelosas/genética , Ataxias Espinocerebelosas/patología , Adulto JovenRESUMEN
We report a case of a 33-year-old Sri Lankan man who presented with flaccid quadriparesis with brainstem signs and acute motor axonal polyneuropathy. MRI of the brain showed multiple abscesses with ring enhancement seen predominantly in the brainstem and upper cervical cord. The patient was initially treated with intravenous immunoglobulin, considering this to be a form of Guillain-Barré syndrome. Cerebrospinal fluid, however, showed lymphocytic pleocytosis with raised protein. Tests for Brucella, tuberculosis, toxoplasmosis, syphilis and HIV were negative. Chest X-ray revealed a cavity in the left lung, which, on bronchoscopy, showed a collection of purulent secretions. Culture of these secretions grew Burkholderia pseudomallei. The patient was treated with two courses of intravenous antibiotics, with resultant radiological improvement; however, with significant morbidity.
Asunto(s)
Absceso Encefálico/microbiología , Melioidosis/diagnóstico , Enfermedades del Sistema Nervioso Periférico/microbiología , Adulto , Absceso Encefálico/complicaciones , Absceso Encefálico/tratamiento farmacológico , Bronquitis/tratamiento farmacológico , Bronquitis/microbiología , Diagnóstico Diferencial , Síndrome de Guillain-Barré/diagnóstico , Humanos , Masculino , Melioidosis/complicaciones , Melioidosis/tratamiento farmacológico , Enfermedades del Sistema Nervioso Periférico/complicaciones , Enfermedades del Sistema Nervioso Periférico/tratamiento farmacológico , Cuadriplejía/etiologíaRESUMEN
OBJECTIVE: To determine the EEG findings associated with acute post coronary artery bypass graft encephalopathy (aPCE), and to study the demographics and neuroimaging findings. METHODS: We reviewed the EEG in all patients with the diagnosis of PCE between February 2006 and December 2011. RESULTS: We identified 21 (20 males, and one female) patients with aPCE. The mean age (+/-SD) was 64 (+/-11.2) years. Thirteen patients had altered level of consciousness, and 8 presented with confusion out of which 3 had acute seizures. The EEG patterns observed were: a) generalized theta plus intermixed diffuse delta in 7 (33%); b) generalized theta with focal epileptiform discharges in 5 (24%); c) generalized triphasic pattern in 3 (14%); d) generalized theta with lateralized delta in 3 (14%); e) generalized theta with periodic lateralized epileptiform discharges (PLEDs), and bilateral synchronous periodic epileptiform discharges (BIPLEDs) in 2 (10%); and f) one patient (5%) with electrographic seizures. On EEG/neuroimaging correlation, the EEGs that showed generalized slowing and generalized triphasic patterns had no acute changes on imaging, while the EEGs that showed lateralized slowing, focal epileptiform discharges, electrographic seizures and PLEDs had fresh infarcts. Patients with BIPLEDs had unremarkable imaging. CONCLUSION: The EEG features such as lateralized slowing, PLEDs, and electrographic seizure were associated with acute cerebral insults. An altered level of consciousness was the most common symptomatology in our cohort, and could possibly be related to hypoxic/toxic-metabolic etiology. Electrographic seizure detected by EEG may clinically present as aPCE.
Asunto(s)
Trastornos de la Conciencia/fisiopatología , Puente de Arteria Coronaria , Electroencefalografía , Hipoxia-Isquemia Encefálica/fisiopatología , Complicaciones Intraoperatorias/fisiopatología , Complicaciones Posoperatorias/fisiopatología , Convulsiones/fisiopatología , Enfermedad Aguda , Anciano , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/fisiopatología , Confusión/etiología , Confusión/fisiopatología , Trastornos de la Conciencia/etiología , Femenino , Humanos , Hipoxia-Isquemia Encefálica/etiología , Complicaciones Intraoperatorias/etiología , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Convulsiones/etiologíaRESUMEN
OBJECTIVE: To assess the tolerability of propofol (PF) in Wada test in an Arab population with temporal lobe epilepsy (TLE). METHODS: This observational study with consecutive sampling took place in King Fahad Medical City, Riyadh, Saudi Arabia. Nine consecutive patients with mean (± SD) age of 26 (± 5.8) years, 6 males and 3 females, underwent Wada test between January 2009 and December 2012. Six of them had left TLE, and 3 had right TLE. Each patient received 10 mg of PF in the internal carotid artery (ICA). Right hemispheric injection was followed by left hemisphere injection after 30 minutes. During the procedure, EEG monitoring showed changes within 5-18 seconds of injection as hemispheric delta slowing. Neuropsychological tests were carried out for localization of memory and language. RESULTS: We were able to lateralize speech dominance in 8 patients and memory dominance in 6 patients. Peri-procedural complications included transient euphoria (n=1), transient spasm of ICA (n=1), eye pain (n=1), facial pain (n=1), and generalized tremulousness (n=2). None of the patients exhibited a symptomatic drop in blood pressure. CONCLUSION: We found that PF is well tolerable for the Wada test, with minimally significant complications, although blood pressure should be closely monitored.
Asunto(s)
Anestésicos Intravenosos , Mapeo Encefálico/métodos , Electroencefalografía/métodos , Epilepsia del Lóbulo Temporal/diagnóstico , Propofol , Adulto , Anestésicos Intravenosos/administración & dosificación , Anestésicos Intravenosos/efectos adversos , Árabes , Femenino , Lateralidad Funcional , Humanos , Masculino , Propofol/administración & dosificación , Propofol/efectos adversos , Habla , Adulto JovenAsunto(s)
Ansiedad/psicología , Depresión/psicología , Epilepsia/psicología , Padres/psicología , Adulto , Niño , Preescolar , Padre/psicología , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
Systemic tuberculosis has been reported with varying neurological manifestations like meningitis, tuberculomas, myositis and neuropathy. Neuromyelitis optica (NMO) is a well known neurological entity which has been described in association with several systemic disorders like systemic lupus erythematosis, diabetes mellitus, hypothyroidism, exposure to insecticides etc. However, only a few cases of NMO have been reported in association with Mycobacterium tuberculosis. Here, we report a case of pulmonary tuberculosis in association with NMO to highlight the under-reported association of NMO with pulmonary tuberculosis presenting in a peculiar anatomical fashion i.e. longitudinal myelitis with predominant posterior column involvement.
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Neuromielitis Óptica/complicaciones , Tuberculosis Pulmonar/complicaciones , Adulto , Antiinflamatorios/uso terapéutico , Antituberculosos/uso terapéutico , Humanos , Imagen por Resonancia Magnética , Masculino , Metilprednisolona/uso terapéutico , Mycobacterium tuberculosis/aislamiento & purificación , Neuromielitis Óptica/diagnóstico , Neuromielitis Óptica/tratamiento farmacológico , Esputo/microbiología , Resultado del Tratamiento , Tuberculosis Pulmonar/diagnóstico , Tuberculosis Pulmonar/tratamiento farmacológicoRESUMEN
Brake fluid (glycol-based) toxicity is known to have a protean of central and peripheral nervous system manifestations. The principal component of this household poison is ethylene glycol. Toxic effect is generally attributed to peri-vascular deposition of calcium oxalate crystals in various tissues. However, clinical features resembling brain death have rarely been reported. We report a case of brake fluid toxicity simulating brain death in a 21-year-old healthy man who ingested it as a recreational agent.
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Muerte Encefálica/diagnóstico , Encéfalo/efectos de los fármacos , Glicol de Etileno/envenenamiento , Pérdida de Tono Postural , Resultado Fatal , Humanos , Masculino , Adulto JovenAsunto(s)
Trastorno Depresivo/patología , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/patología , Adulto , Anciano , Estudios de Cohortes , Comorbilidad/tendencias , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiologíaRESUMEN
Intermittent Photic Stimulation (IPS) is a well recognized provocation maneuver during EEG recording which helps in identifying underlying photosensitivity. The frequency and characteristics of various responses to photosensitivity among our adult patients was determine. EEGs of subjects > or =15 years from 2003-2006, were reviewed. Two main photosensitive responses were observed: Photoparoxysmal (PPR) and Photic-driving response (PDR). Demographic and clinical data was also collected. Out of 5950 EEG's performed, response to IPS were detected in 1.2% (n=73) of EEGs. Out of which 49 (67%) had PDR and 24 (33%) had PPR. Mean age of PPR group was 25.7 +/- 12 years with equal gender distribution. In PPR subjects, epilepsy was the final EEG conclusion in majority of patients 96% (n=23) p-value < 0.001. Primary Generalized Epilepsy being the most common 52% (n=12). In contrast, PDR observed in normal EEG's was 45% (n=22). This study revealed low frequency 1.2% of photosensitive responses. PPR is seen frequently in patients with epilepsy (96%, p-value < 0.001), and highest rate (52%) of photosensitivity was observed in patients with primary generalized epilepsy.
Asunto(s)
Epilepsia/diagnóstico , Estimulación Luminosa/métodos , Trastornos por Fotosensibilidad/diagnóstico , Adolescente , Adulto , Anciano , Electroencefalografía , Femenino , Humanos , Luz , Masculino , Persona de Mediana Edad , Convulsiones/etiología , Adulto JovenRESUMEN
OBJECTIVE: To determine the characteristics of post-stroke seizures and compare these in early vs. late post-stroke seizures. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Neurology, Liaquat National Hospital, Karachi, from March to September 2007. METHODOLOGY: All admitted patients aged over 25 years, with diagnosis of post-stroke seizures were included. Those with known epilepsy, sepsis and electrolyte imbalance were excluded. Age, co-morbid condition, details of seizures and radiological findings regarding type and location of stroke were collected and entered in a pre-formed proforma. Results were described as frequency and mean. Association of variables was determined through chi-square test with significance at p < 0.05. RESULTS: Out of the 50 patients, there were 28 (56%) males and 22 (44%) females with the mean age of 56.86 ± 15.26 years. Thirty-one (62%) patients had history of hypertension. Early seizures i.e. within 2 weeks were seen in 29 (58%) patients. Generalized seizures were seen more frequently i.e. in 37 (74%) patients. Thirty-one (62%) subjects experienced more than 2 seizures. Forty (80%) had an ischemic stroke including 36 (72%) arterial infarct and 3 (6%) venous infarcts. Intracerebral hematoma was seen in 10 (20%) of subjects. Comparison between early and late onset seizures revealed significant association between ischemic heart disease (IHD), old stroke, hypertension and late onset seizures (p < 0.05). CONCLUSION: Post-stroke seizures were more frequent in males, with history of hypertension, and with cortical ischemic strokes. Early seizures, multiple episodes and generalized seizure type were more common. Venous infarcts were chiefly associated with seizures at presentation. History of old stroke, ischemic heart disease, hypertension and hypercholesterolemia showed a strong relationship with the occurrence of late onset seizures.
Asunto(s)
Convulsiones/epidemiología , Accidente Cerebrovascular/complicaciones , Adulto , Anciano , Isquemia Encefálica/epidemiología , Comorbilidad , Femenino , Humanos , Hipertensión/epidemiología , Masculino , Persona de Mediana Edad , Convulsiones/diagnóstico , Factores de TiempoRESUMEN
Defining intractable epilepsy is essential not only to identify up to 40% of patients refractory to pharmacological management, but also to facilitate selection and comparison of such patients for research purposes. The ideal definition still eludes us. Multiple factors including number of antiepileptic drug (AED) failures, seizure frequency and duration of unresponsiveness, etiology, and epilepsy syndromes are considered in formulating the definition of pharmaco-resistant epilepsy. Most definitions used in the literature agree on the number of AED failures, which seem to be 2 or 3, however, the seizure frequency and time factor are varied. The International League Against Epilepsy proposed a definition of drug-resistant epilepsy as a failure of adequate trials of 2 tolerated and appropriately chosen and used AED schedules. This for now, could provide an operational definition for clinical and research settings. However, with emergence of new data and novel treatments the criteria for intractability may change.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/diagnóstico , Epilepsia/tratamiento farmacológico , Epilepsia/clasificación , Epilepsia/etiología , HumanosRESUMEN
Studies of specific populations have provided invaluable knowledge about Parkinson's disease (PD), especially in the field of genetics. The present report systematically reviews the medical literature on PD in Arabs. Medline and Embase were searched, and 24 article were identified: genetic (n = 17), epidemiological (n = 3), and clinical series (n = 5). Both autosomal dominant and recessive forms of inherited PD are described, associated with four genes (Parkin, PINK1, LRRK2, and PARK9). The G2019S LRRK2 mutation is more common in both familial (37-42%) and apparently sporadic PD (41%) in North African Arabs than in Europeans and North Americans (2-3%). The incidence of PD is reported at 4.5 per 100,000 person-years and reported prevalence at 27 to 43 per 100,000 persons. Hospital-based clinical series suggest that parkinsonism is the commonest movement disorder. Clinical features of PD in Arabs are not significantly different from those reported elsewhere. PD was reported as the cause of dementia in around 7% of Arabs. The majority of studies relate to the role of genes in the etiology of PD in North African Arabs. Further genetic, epidemiological and clinical studies from the majority of Arabic countries may enhance our understanding of PD.