Improvement in glycemic control and neurological function P revious studies have reported the successful switch from insulin to sulfonylrea therapy in some patients who have neonatal diabetes due to KCNJ11 mutations (1); however, data on adults are limited (2,3). Also, it has not yet been determined whether neurological symptoms can be improved by the action of sulfonylrea therapy.Here, we report the glycemic and neurological responses in an adult patient with the G53D mutation in the KCNJ11 gene who was transferred from insulin to sulfonylurea.A 26-year-old male patient was diagnosed with diabetes in the third month of life, and insulin treatment was initiated. Islet cell antibodies were negative. He showed severe learning difficulties and very poor attention. Crisis of generalized seizures started at age 5 years during episodes of hypoglycemia; his electroencephalogram was normal.In 2006, the proband was found to have a heterozygous G53D mutation in the KCNJ11 gene. In an attempt to switch from insulin to sulfonylrea therapy, glibenclamide was introduced. After 4 weeks, the patient no longer required insulin and was using 0.8 mg ⅐ kg Ϫ1 ⅐ day Ϫ1 glibenclamide; subsequently, the dose was reduced to 0.68 mg ⅐ kg Ϫ1 ⅐ day Ϫ1 . Capillary glucose measurements showed that 3 months after starting glibenclamide therapy, mean glucose levels before lunch and dinner reduced from 185 Ϯ 100 to 107 Ϯ 45 mg/dl (P ϭ 0.036) and from 225 Ϯ 110 to 111 Ϯ 41 mg/dl (P ϭ 0.006), respectively. A 72-h continuous glucose monitoring showed that 76% of glycemic values were between 71 and 199 mg/dl. Postprandial Cpeptide level was Ͻ0.05 ng/ml before sulfonylrea therapy and increased to 1.3 ng/ml during glibenclamide treatment.The patient was given an identical battery of neuropsychological tests before and after initiating sulfonylrea therapy. At baseline, the patient showed low intellectual level (IQ: 52) and global impairment on cognitive functions. Retesting 3 months after initiating glibenclamide showed an important improvement in verbal performance, such as episodic verbal memory, visual naming ability, verbal learning, and long-term memory.Here, we showed the effectiveness of sulfonylrea therapy in an adult patient carrying the G53D mutation in the KCNJ11 gene. The change to sulfonylrea resulted in a marked improvement in diabetes control and quality of life. Also, an improvement on verbal performance was observed. It is very likely that the improvement observed in our patients' neurological status is related to the action of glibenclamide on sulfonylrea receptor 1 present in the neurons. However, we cannot exclude the possibility that the reduction of hypoglycemia may also have contributed.In summary, this case illustrates that sulfonylrea treatment can be effective even in adult patients with neonatal diabetes due to KCNJ11 mutations. Besides improvements on metabolic control and quality of life, sulfonylrea therapy also showed beneficial effect on neurological functions.
INTRODUCTION: Somatosensory auras (SSAs) are more usually described in patients with parietal lobe epilepsy (PLE), producing more commonly a localized cutaneous tingling sensation, involving hands and fingers followed by tonic or clonic focal seizures. These usually originate in the contralateral hemisphere. Etiology includes dysplasias, tumours, ischemic or postencephalitic gliosis. However, other focal epilepsies, such as frontal and temporal, may also originate SSAs. Although this type of aura is reported as rare in patients with mesial temporal lobe epilepsy (MTLE), this association has not been systematically studied. OBJECTIVES: The aim of this article was to describe the cases of four patients with refractory MTLE and SSAs, reporting their clinical characteristics and MRI findings. We discuss the localizing and lateralizing value of SSAs, particularly in the context of MTLE. METHODS AND RESULTS: Four patients with refractory MTLE and SSAs followed-up in the outpatient's clinic at the Epilepsy Section, Universidade Federal de São Paulo, were submitted to presurgical evaluation and corticoamygdalohippocampectomy. MRI in all cases showed unilateral mesial temporal sclerosis (MTS). Regarding seizure semiology, tingling sensation involving the upper extremity was the most prevalent symptom. Three of the four patients had SSAs contralateral to the MTS. Following the SSAs all patients most of the time presented other symptoms such as autonomic or psychic auras evolving to psychomotor seizures. After surgical treatment, two of the patients presented infrequent auras, and two were rendered seizure-free. CONCLUSION: Although rare, SSAs can be present in MTLE. The characteristics of autonomic or psychic auras, psychomotor seizures, neuropsychological deficits, and typical neurophysiologic and MRI findings may help differentiate patients with MTLE from those with PLE.
Introduction: Ictal fear (IF) is one of the most frequent emotional auras. It is the sole or predominant manifestation of simple partial seizures or initial expression of a complex partial seizure. It is more often experienced in patients with mesial temporal lobe epilepsy (TLE), probably associated with mesial temporal structures, like the amygdala. Anxiety disorders are very common psychiatric disorders associated with epilepsy, with a prevalence of 15 to 25%. Objectives: To describe three patients with IF with refractory mesial TLE, also presenting the results of EEG, imaging exams, neuropsychological, quality of life and psychiatric evaluations. Methods and Results: Three case reports of patients with refractory mesial TLE and IF followed up in the outpatient's clinic at the Epilepsy Section, Universidade Federal de São Paulo, Brazil, were submitted to presurgical evaluation and corticoamygdalohippocampectomy. Two patients presented ictal scalp-sphenoidal EEG onset on left side. Two patients had major depressive disorder in psychiatric evaluation. Conclusion: Although IF is the most frequent ictal psychological symptom, anxiety and mood disorders are very common psychiatric comorbidity in patients with epilepsy. It was concluded that differential diagnosis of interictal anxiety disorders, panic attacks and IF can be difficult, and requires careful management. RESUMO Medo ictal: características semiológicas e diagnóstico diferencial em transtornos de ansiedade interictaisIntrodução: O medo ictal (IF) é uma aura comum. Pode ser a unica manifestação de uma crise parcial simples ou o início de uma crise parcial complexa. Freqüentemente vivenciada por pacientes com epilepsia do lobo temporal mesial (TLE) é associada a comprometimento de estruturas mesiais como a amígdala. Os transtornos de ansiedade são muito comuns entre os transtornos psiquiátricos associados a epilepsia, com uma prevalência de 15 a 20%. Objetivos: descrever três casos de pacientes com medo ictal como manifestação de epilepsia refratária do lobo temporal mesial, apresentando também resultados do EEG, exames de imagem, avaliação neuropsicológica, de qualidade de vida e psiquiátrica. Métodos e Resultados: Três pacientes acompanhados no ambulatório do setor de Epilepsia da Universidade Federal de São Paulo com epilepsia refratária do lobo temporal mesial foram submetidos a avaliação pré-cirúrgica e corticoamidalahipocampectomia. Dois apresentaram EEG de superficie com eletrodos esfenoidais com início ictal do lado esquerdo e dois tinham transtorno de depressão maior segundo a avaliação psiquiátrica. Conclusão: Embora o medo ictal seja uma aura freqüente, é importante levar em conta os índices elevados de comorbidades psiquiátricas, como os transtornos ansiosos, nos pacientes com epilepsia. Concluiu-se que pode ser difícil o diagnóstico diferencial de transtornos de ansiedade interictal, ataques de pânico e medo ictal, exigindo um manejo cuidadoso. Unitermos: transtorno de ansiedade, epilepsia, medo ictal, neurologia, psiquiatria.
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