Lobstein's disease presenting with seizures

Osteogenesis imperfecta (OI) is a group of hereditary disorders most often due to an anomaly of collagen biosynthesis. Divers clinical manifestations are reported. Neurological manifestations are exceptional. A 40-year-old man with a history of multiple bone fractures was admitted for a generalized tonic-clonic seizure. There was no metabolic disorder, the patient however complained of bilateral shoulder pain. Standard radiography and shoulder MRI revealed bilateral humeral fractures. The electroencephalogram and the brain MRI showed no abnormalities. He was given valproate acid and eight months later was free of crises. Search for an etiological favored the diagnosis of Lobstein disease.     

Trichloroethylene intoxication presenting with temporal seizures

INTRODUCTION: Trichloroethylene (TCE) is extensively used as a degreasing agent in the metal industry and as a solvent for organic compounds. Its neurotoxicity (with respect to both the peripheral and central nervous systems) is now widely acknowledged. OBSERVATION: Here, we report the case of a 32-year-old male drug addict presenting temporal seizures after "huffing" TCE (i.e. voluntary inhalation). The patient also deve loped a "psycho-organic syndrome" which included cognitive dysfunction (with memory disorders in particular) and personality changes. These disorders had not been noticed by the patient's wife prior to the last episode of inhalation. Four months later, the cognitive disorders had stabilized and no further seizures had been observed. CONCLUSION: The patient's overall clinical picture (notably featuring neuropsychological disorders) and electroencephalographic and brain imaging data argue in favor of a selective effect of TCE on the temporal lobe.     

An unusual disease presenting at an unusual age: Susac's syndrome.

Susac's syndrome is a rare disease of unknown aetiology affecting the small vessels of the retina, brain, and cochlea. We present the case of a 55-year-old female, the oldest patient yet described with the condition, and highlight the syndrome's clinical features.     

Intracranial pseudolymphoma presenting with grand mal seizures

Primary central nervous system lymphoproliferative disorders comprise a heterogenous group of intracranial disease, predominantly of the high-grade non-Hodgkin’s lymphoma type. We report a 56-year-old woman who developed new-onset grand mal seizures and was found to have two small uniformly enhancing dural-based lesions, which were radiologically concerning for meningiomas. Biopsy demonstrated findings consistent with benign, reactive lymphoid tissue. The patient’s seizures resolved post-operatively. To our knowledge, this is the first reported patient with intracranial pseudolymphoma presenting as grand mal seizures. This case highlights this rare differential consideration in a patient with symptomatic dural-based lesion.     

Idiopathic generalized epilepsy presenting with hemiconvulsive seizures

PURPOSE: Unilateral seizures, or hemiconvulsive attacks, are motor seizures with tonic and/or clonic phenomena that involve only one side of the body. METHODS: We describe three adolescents who presented with hemiconvulsive seizures and were found to have 3-cps generalized spike-and-wave discharges on ictal and/or interictal EEG. All had normal neuroimaging studies. Two patients had been previously treated with carbamazepine, which led to a partial response in one patient. RESULTS: All three patients, however, are now seizure free on either sodium valproate or a combination of sodium valproate and lamotrigine. We believe the electroclinical diagnosis is that of idiopathic generalized epilepsy. CONCLUSIONS: Idiopathic generalized epilepsy presenting with hemiconvulsive seizures has not, to our knowledge, been previously described. However, the correct diagnosis of an idiopathic generalized seizure disorder, as opposed to a partial seizure disorder, has important treatment implications. The possible mechanism of hemiconvulsive seizures in idiopathic generalized epilepsy is discussed.     

表现为癫痫发作和认知功能障碍的胰岛细胞瘤一例及文献分析

目的 总结胰岛细胞瘤所致癫痫发作及认知功能障碍的临床特点、影像学表现、脑电图及病理特征.方法 分析1例表现为癫痫发作及认知功能障碍的胰岛细胞瘤患者的临床资料,并复习相关文献报道.结果 患者49岁,女性,主要表现为多种类型的癫痫发作及认知功能障碍.发作时测血糖均＜1.7 mmol/L;头MRI检查示胼胝体压部病灶.脑电图检查示左颞枕区中波幅尖波,双侧各程可见长短程高波幅慢波.胸部增强CT检查示胰腺头颈部交界区富血供肿瘤.行肿瘤切除术后病理学诊断为胰岛细胞瘤.术后患者未再出现低血糖及抽搐发作,遗留记忆力减退.结论 临床应高度警惕伴有低血糖的顽固性不典型的癫痫患者是否有胰岛细胞瘤的可能,以尽早诊断及治疗,改善预后.     

Hyperparathyroidism presenting with unusual neurological features

A case of hyperparathyroidism, who presented with unusual complex neurological symptomatology is reported. Mental confusion, asterixis and elevated cerebrospinal fluid protein with marked pleocytosis dominated the neurological picture. All these findings subsided upon correction of hypercalcemia, suggesting direct relationship between cerebrospinal fluid abnormalities, asterixis and this metabolic disturbance.     

Occipital seizures presenting with bilateral visual loss

Transient visual loss may occur with occipital seizures as an ictal or post-ictal phenomenon. Its duration varies from less than one minute to days, or can be permanent. We describe a 61-year-old man presenting with headache, vomiting and bilateral visual loss. EEG revealed persistent spike discharge in the occipital lobes suggesting occipital seizures. His vision improved with carbamazepine.     

以癫痫起病的颞叶海绵状血管瘤的手术治疗

目的 探讨以癫痫起病的颞叶海绵状血管瘤的临床特征、显微手术治疗方法及效果。方法 对14例以癫痫起病的颞叶海绵状血管瘤的临床资料、手术方式和手术效果进行回顾性分析。结果 6例单纯瘤周放电和1例电极描记阴性行单纯病变和含铁血黄素层切除;7例病变侵及颞叶内侧和岛叶,加行前颞叶以及内侧结构切除术。术后随访1~2年,癫痫缓解率满意,按照Engel 癫痫手术预后标准,Ⅰ级8例,Ⅱ级4例,Ⅲ级1例,Ⅳ级1例;所有患者未检测到血管瘤复发。结论 对颞叶海绵状血管瘤继发癫痫,术前积极评估,采取个体化手术方案,争取血管瘤和含铁血黄素层全切,同时恰当处理好存在的致痫灶,是治愈海绵状血管瘤和控制癫痫发作的有效手段。     

Clinical features of seizures associated with parahippocampal/inferior temporal lesions compared to those with hippocampal sclerosis

Temporal lobe epilepsy (TLE) is not a unitary electroclinical imaging syndrome. We asked if seizures arising from the parahippocampal‐inferior temporal (PIT) region differ from those associated with hippocampal sclerosis (HS). The electroclinical features of 22 patients with HS and 14 patients with lesions in the PIT region who underwent epilepsy surgery and were seizure free for at least 2 years postoperatively were analyzed retrospectively. Patients with PIT lesions had a higher frequency of hypermotor and bilateral features and a lower frequency of behavioral arrest at the onset of seizure compared to cases with HS, suggesting that TLE originating in the PIT area can mimic frontal lobe epilepsy or contralateral mesial TLE.     

Myasthenia gravis presenting with unusual neurogenic muscle atrophy

We report a patient with myasthenia gravis who had neurogenic muscle atrophy in association with external ophthalmoplegia and weakness of the upper limbs. Neurogenic changes in the limb muscles were found on needle electromyography and histological studies. Symptoms improved and atrophy of the limbs diminished after intravenous immunoglobulin and oral corticosteroid therapy. We concluded that functional interruption of the neuromuscular junction caused the neurogenic muscle atrophy and that this was relieved by appropriate therapy.     

Wilson's disease presenting with an unusual cough.

A 26-year-old man developed an unusual repetitive, nonproductive cough. Extensive pulmonary and otolaryngology investigations failed to disclose a cause. It was only after he developed additional neurological manifestations ultimately leading to the diagnosis of Wilson's disease (WD) that a neurological basis for the cough was suspected. Features of the cough suggest it was a form of respiratory dyskinesia, a previously unreported presentation of WD.