RESUMEN
BACKGROUND AND PURPOSE: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late-onset Tay-Sachs disease (LOTS) is extremely rare, especially in the non-Ashkenazi Jewish population, and is characterized by a more indolent presentation typically encompassing features of cerebellar and anterior horn cell dysfunction in addition to extrapyramidal and neuropsychiatric symptoms. CASES: A case series of four unrelated patients of non-Ashkenazi Jewish origin with a predominantly, and in some cases pure, neuromuscular phenotype with evidence of a motor neuronopathy on electromyography is presented. Cerebellar atrophy, reported to be a ubiquitous feature in LOTS, was absent in all patients. CONCLUSION: This case series provides evidence to support a pure neuromuscular phenotype in LOTS, which should be considered in the differential diagnosis of anterior horn cell disorders.
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Trastornos Mentales , Enfermedad de Tay-Sachs , Humanos , Enfermedad de Tay-Sachs/diagnóstico , Enfermedad de Tay-Sachs/genética , Enfermedad de Tay-Sachs/psicología , Fenotipo , CerebeloRESUMEN
OBJECTIVES: This incidence of non-epileptic seizures (NES) is estimated at 1-35 per 100,000 population. While many patients achieve remission, a significant fraction of patients have a poor prognosis despite optimal interventions. This study reports on the characteristics of patients with refractory NES diagnosed and treated at a comprehensive epilepsy centre. METHODS: A retrospective review of admissions to the Epilepsy Monitoring Unit identified patients diagnosed with NES over a 6-year period. Patients with refractory NES were identified through review of medical files. A diagnosis of refractory NES was assigned when patients experienced ongoing NES at least 1 year after diagnostic video-EEG monitoring. Data pertaining to predisposing, precipitating and perpetuating factors was collected on all patients and a comparative analysis was conducted between refractory and non-refractory cases. RESULTS: 66 patients with NES were identified, 35% were deemed refractory. There was no significant difference amongst predisposing factors between the groups. Psychosocial adversity and a clear precipitant proximate to the onset of NES were significantly more common in the refractory cohort. Unemployment at time of diagnosis was a significant perpetuating factor associated with poor outcome. CONCLUSION: This study provides insight into the features associated with refractory NES and may serve to improve prognostication and management in this disabling condition.
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Electroencefalografía , Convulsiones , Humanos , Femenino , Masculino , Adulto , Convulsiones/diagnóstico , Convulsiones/epidemiología , Estudios Retrospectivos , Persona de Mediana Edad , Adulto Joven , Adolescente , AncianoRESUMEN
BACKGROUND: Cork University Hospital acts as the tertiary referral centre for the HSE southern area, with a catchment population of 1.2 million [1]. The neurology registrars receive telephone consultations from hospitals and primary care practices in the region. While there have been a number of studies examining inpatient neurology consultations in Irish hospitals [2-6], there is a paucity of data examining the support provided by tertiary referral centres to other acute hospitals and primary care centres in their region. AIMS: The aim of this study is to define the workload of the neurology registrar with respect to telephone consultations and to examine the quality of these referrals. METHODS: All calls received from the 19th of October 2021 to the 25th of February 2022 were logged by the receiving registrar. Information collected pertained to the nature of the consult and completeness of the referral. RESULTS: The average volume of calls during the study period was six per week. The median call duration was 8 min. The cumulative time spent resolving outside calls during the study period was at least 41.25 hours. Sixty-three per cent of calls were from other acute hospitals in the region. Thirty-nine per cent of referrals were deemed incomplete with respect to either history, collateral history or examination. CONCLUSIONS: This is a necessary service in a system that is not adequately resourced to provide specialist led care in all hospitals. A greater emphasis on complete and accurate referrals, along with robust communication and documentation, could reduce the inherent risk associated with such consultations.
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Neurología , Derivación y Consulta , Humanos , Centros de Atención Terciaria , Teléfono , ComunicaciónRESUMEN
AIM: We aim to determine the efficacy of an intensive week of large group tutorials in the teaching of neurology to medical students. We also look to compare teaching methods within our centre. METHODS: Students were asked to complete a questionnaire before and after large group tutorials ranking their confidence in neurology. Students from two consecutive years were studied, each using a different tutorial method. An 'intensive week' approach was then compared to a 'once a week' approach. RESULTS: Responses from pre and post the tutorial week were compared. Students reported an improvement in all domains following either method of delivering tutorials. There was no statistically significant difference between the two approaches. CONCLUSION: Large group tutorials are an effective way of delivering neurology teaching to undergraduate medical students.