Cases reported "Seizures"

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11/19. seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

    AIM: glucose transporter 1 deficiency syndrome (GLUT1-DS) is an important condition for the general paediatrician's differential armamentarium. We describe a case series of eight patients in order to raise awareness of this treatable neurometabolic condition. The diagnosis of GLUT1-DS is suggested by a decreased absolute cerebrospinal fluid (CSF) glucose value (<2.2 mmol/L) or lowered CSF: plasma glucose ratio (<0.4). methods: This is a review of eight queensland patients with GLUT1-DS. The clinical presentation, clinical course, laboratory investigations and treatment outcomes are discussed. RESULTS: The clinical features noted in our patient cohort include combinations of ataxia, developmental delay and a severe seizure disorder that is refractory to anticonvulsant medications. seizures are the most common clinical manifestation and may be exacerbated by phenobarbitone. The paired CSF: plasma glucose results ranged from 0.2 to 0.39 (normal <0.6) with an average of 0.33. 3-O-Methyl-D-glucose uptake and GLUT1 Genotyping analysis have been performed on five patients thus far. Rapid and impressive seizure control was observed in 100% of our patients once the ketogenic diet was instituted, with half of the cohort being able to wean completely from anticonvulsants. CONCLUSION: Children presenting with a clinical phenotype consisting of a refractory seizure disorder, ataxia and developmental delay should prompt the consideration of glucose transporter 1 deficiency syndrome. While the diagnostic test of lumbar puncture is an invasive manoeuvre, the diagnosis provides a viable treatment option, the ketogenic diet. GLUT1-DS displays clinical heterogeneity, but the value of early diagnosis and treatment is demonstrated by our patient cohort.
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12/19. Anti-Ma2-associated encephalitis with normal FDG-PET: a case of pseudo-Whipple's disease.

    BACKGROUND: A 39-year-old man presented with a history of several months of progressive personality changes, social withdrawal, bradykinesia, mutism, dysphagia, worsening gait, and difficulty with daily living activities. Examination revealed an atypical parkinsonian appearance with incomplete supranuclear ophthalmoplegia and an unusual oculomotor disorder characterized by both low-amplitude, intermittent opsoclonus, and slow, nystagmoid intrusions. INVESTIGATIONS: Routine laboratory testing, autoimmune and infectious serologies, brain MRI, lumbar puncture, electroencephalogram, whole-body CT scan, paraneoplastic serologies, small bowel biopsy, 18F-fluorodeoxyglucose positron emission tomography CT scan, brain biopsy, and testicular ultrasound. diagnosis: Anti-Ma2 paraneoplastic encephalitis in association with metastatic testicular cancer; initially misdiagnosed as CNS Whipple's disease. MANAGEMENT: Corticosteroids, intravenous immunoglobulins, orchiectomy, muscle relaxants, mycophenolate mofetil, plasmapheresis, and bleomycin, etoposide and platinum chemotherapy.
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13/19. Neurological cause of late postpartum seizures.

    A 32-year-old primigravida showed signs of pre-eclampsia before delivery of a healthy boy at term. The CSF-space was accidentally punctured during epidural anaesthesia in labour. One day later hypertension was noted and the patient had a single generalized fit. For the next three weeks she had postural headaches, fluctuating hypertension, intermittent hearing loss and double-vision. On the 22nd day of postpartum, the patient had the first of a series of partial and later generalized seizures, followed by hemiparesis, alteration of consciousness, and finally slow recovery with corticosteroid therapy. Bilateral subdural effusions and generalized meningeal thickening were found on MR scans. Repeated MRI excluded sinus thrombosis and documented the response to treatment.
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14/19. Postpartum headache, seizures and bloodstained C.S.F.: a possible complication of dural puncture?

    A 32-year-old parturient developed severe headache with subsequent convulsions on the third day after the delivery under epidural anesthesia. Neuroradiological investigations were negative. All complaints disappeared promptly after the performance of an epidural blood patch.
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15/19. Transient cerebral dysfunction secondary to high-dose methotrexate.

    A transient acute neurologic syndrome occurred in 22 patients receiving high-dose methotrexate (HDMTX) (8 to 9 g/m2) for a variety of malignancies. The neurologic signs were similar in all cases. The syndrome occurred an average of six days after the second or third weekly treatment. Common findings included behavioral abnormalities, focal sensorimotor signs, and abnormal reflexes. Signs often alternated from one side to the other. Evaluations including computed tomography (CT) scan, lumbar puncture, hemogram, and blood chemistry were normal. The EEG revealed some slowing in all cases. The cause of this syndrome is unknown. It is transient and usually does not recur. Its appearance does not preclude further treatment with HDMTX.
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16/19. Transient neurologic disturbances, brain tumors, and normal computed tomography scans.

    During a 4-year period, four patients presented with transient disturbances in neurologic function that were diagnosed as seizures in two and transient ischemic attacks in the other two. Computed tomography (CT scan), both with and without contrast, was normal in all four patients. Isotopic brain scans (3 patients), cerebral angiograms (4 patients), and lumbar punctures (4 patients) were normal. Electroencephalograms (EEG) were normal in two patients and abnormal in two patients (consisting of focal slowing). Within 4.5 months, all patients developed symptoms and signs of a brain tumor, and in all four, CT scan now revealed a large mass lesion which at surgery was shown to be a malignant astrocytoma. These four patients constituted 4% of the total number of patients with malignant astrocytomas that were seen at the NYU Medical Center during this same time period. It is stressed that the CT scan may be normal early in the course of patients with brain tumors, particularly if they present with a transient disturbance in neurologic function. The first evidence of the tumor in such patients may be a slow-wave abnormality on the EEG. patients who are suspected of having a brain tumor should, if the initial CT scan is normal, have the scan repeated later.
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17/19. Unruptured cerebral aneurysms presenting as recurrent transient neurologic deficits.

    Recurrent transient neurologic deficits were evaluated clinically in four patients. In three patients, the symptoms included recurrent transient homonymous hemianopia, episodic weakness and numbness of the left arm and leg, and recurrent sudden loss of speech and of strength in the right arm. In these three patients, the episodes were first thought to be transient ischemic attacks (TIAs). A fourth patient had repeated confusional spells, in which a recurrent musical theme excluded other thoughts. This was associated with dizziness and difficulty in naming. A partial complex seizure was thought responsible. In each of the cases the symptoms lasted less than 30 minutes and were not associated with loss of consciousness, headache, or stiff neck. Electroencephalogram (EEG), brain scan, lumbar puncture, and computed tomography (CT) scan were normal. In all patients, cerebral arteriography unexpectedly revealed an unruptured cerebral aneurysm. The locations of the aneurysms were appropriate to the symptoms, which remitted in the three patients treated surgically for the aneurysm. Although the pathophysiology is uncertain, an ischemic process may be implicated.
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18/19. Can seizures be the sole manifestation of meningitis in febrile children?

    OBJECTIVE. It is frequently taught that lumbar puncture is a mandatory procedure in many or all children who have fever and a seizure, because the convulsion may represent the sole manifestation of bacterial meningitis. We attempted to determine the incidence of this occult manifestation of meningitis. DESIGN. Retrospective case series. SETTING AND patients. 503 consecutive cases of meningitis in children aged 2 months to 15 years seen at two referral hospitals during a 20-year period. MAIN OUTCOME MEASURES. signs and symptoms of meningitis in patients having associated seizures. RESULTS. meningitis was associated with seizures in 115 cases (23%), and 105 of these children were either obtunded or comatose at their first visit with a physician after the seizure. The remaining 10 had relatively normal levels of consciousness and either were believed to have viral meningitis (2) or possessed straightforward indications for lumbar puncture: nuchal rigidity (6), prolonged focal seizure (1), or multiple seizures and a petechial rash (1). No cases of occult bacterial meningitis were found. CONCLUSION. In our review of 503 consecutive children with meningitis, none were noted to have bacterial meningitis manifesting solely as a simple seizure. We suspect that this previously described entity is either extremely rare or nonexistent. Commonly taught decision rules requiring lumbar puncture in children with fever and a seizure appear to be unnecessarily restrictive.
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19/19. Convulsions, ataxia and hallucinations following propofol.

    A 6-year-old fit girl experienced convulsions 44 h after an otherwise uneventful anaesthesia with propofol, alfentanil and nitrous oxide. As an underlying pathology was suspected, the child was kept sedated for 6.5 h for further investigations. During this period she received a continuous infusion of propofol amounting in total to 1600 mg. After having regained consciousness, she was strikingly ataxic and remained so for 5 days. During this period she also experienced two episodes of hallucinations lasting about 2 h. Investigations including lumbar puncture, EEG, cerebral CT and MR scan could not explain the neurological symptoms. She recovered without long-term sequelae.
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