Clinical Neuroscience

[NONSENSE MUTATION 193C>T OF NEUROFIBROMATOSIS TYPE 2 - A NEUROSURGICAL CHALLENGE]

BOBEST Mátyás1, TÓTH Csaba2, GYURCSÓ Mária3, MOLNÁR Mária Judit4, GARZULY Ferenc2

JANUARY 20, 2007

Clinical Neuroscience - 2007;60(01-02)

[A 15 years old male was operated because of incidentally found intercostal schwannoma. Two years later severe cerebellar ataxy and left sided anacusis developed. MRI revealed bilateral vestibularis tumors and multiple cervical intradural extramedullar myelon compressing lesions. After partial resection of the huge left sided cerebello-pontin tumor, histologically schwannoma, and the exstirpation of the multiple cervical meningiomas the patient died three months later due to septic complications. The 24 years old mother had been operated on similar lesions 12 years earlier, after two weeks postoperative period she died. Her 14 years old twins are living, a boy also with bilateral acustic tumours and a girl who is intact. Genetic investigation revealed C>T nonsense mutation at position 193 in the exon 2 of the NF2 gene. This mutation cause premature truncation of the gene protein and is probably in connection with the clinically severe phenotype. Early diagnosis of this type of neurofibromatosis is mandatory concerning the therapy.]

AFFILIATIONS

  1. Vas Megye és Szombathely Megyei Jogú Város Markusovszky Kórháza, Idegsebészeti Osztály, Szombathely
  2. Vas Megye és Szombathely Megyei Jogú Város Markusovszky Kórháza, Patológiai Osztály, Szombathely
  3. Gyermek- és Ifjúsági Mentálhigiéniés Gondozó, Gyôr
  4. Országos Neurológiai és Pszichiátriai Intézet, Molekuláris Neurológia Osztály, Budapest

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[APPLICATION OF FUNCTIONAL MR-IMAGES ACQUIRED AT LOW FIELD IN PLANNING OF NEUROSURGICAL OPERATION CLOSE TO AN ELOQUENT BRAIN AREA]

AUER Tibor, SCHWARCZ Attila, JANSZKY József, HORVÁTH Zsolt, KOSZTOLÁNYI Péter, DÓCZI Tamás

[Aim of the study - Presentation of functional MRI performed at low magnetic field (1 Tesla) for planning microsurgical operation in a patient suffering from tumor close to an eloquent brain area. Methods - Microsurgical removal navigated by frameless stereotaxy of an intrinsic tumor located in eloquent area is indicated if speech function is not damaged, i.e. exact localisation and relationship of the tumor and speech area can be defined. Before operation an optimized EPI based 2D sequence was applied to yield functional MR images. At the planning of the operation the paradigm used for the localization of the sensory language cortex contained passive listening to a text. Control investigations were performed one month postoperatively. A specific psychological test, as an additional investigation to estimate the accurate level of the sensory language function, was also conducted. Results - Low resolution (matrix of 64×64) functional MR images visualized sensory speech center and auditory cortex satisfactorily. The scans showed clearly that the Wernicke's region was situated just above the tumor (WHO grade II glioma), and this finding increased the safety of intraoperative localization and reduced the risk of morbidity. Control examinations revealed minimal decrease in sensory language function, however, it was not noticeable for either the patient or her surroundings. Conclusion - Optimized functional MR imaging performed at low magnetic field can support planning of neurosurgical operations and reduce the morbidity of microsurgical interventions.]

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[Objective - A retrospective study to evaluate the efficacy of levetiracetam in the treatment of adult pharmacoresistant epilepsy. Method - Retrospective work up of our treatmentexperiences with 55 pharmacoresistant patients treated with levetiracetam (11 of them on monotherapy) for 6-39 months. Three treatment groups were analysed: idiopathic generalised epilepsy (9 patients); partial epilepsy (30 patients); malignant or malignated epileptic syndromes (16 patients). Result - Seven idiopathic generalised patients (77%) and 5 partial epilepsy patients (16%) became seizure free. One idiopathic generalised epileptic patient, 10 partial epilepsy patients (33%) significantly improved. Six patients (37%) from the group of malignant or malignated epileptic syndromes also significantly improved. Five of the improved idiopathic generalised epilepsy patients and 6 of the improved partial epilepsy patients received levetiracetam monotherapy. Altogether seven patients (12% of the whole population) relapsed after a 4-15 months improved period. Fifteen patients (27%) suffered side effects (mainly somnolence, headache, dizziness and irritability) improving after dose reduction of levetiracetam (generally below 2000 mg pro day). Conclusion - Levetiracetam is an effective, well tolerable, broad-spectrum drug as adjunctive treatment or monotherapy in adult patients unsuccessfully treated with other antiepileptic drugs.]

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[CONGRESS CALENDAR]

[Congress calendar 2007;60(01-02)]

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[A CASE OF SCHIZENCEPHALY WITH POLYMICROGYRIA]

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[A case of extensive bilateral frontotemporal schizencephaly is alleged - more extensively in the left hemisphere - which associated with polymicrogyria. The cortical anomaly was discovered only incidentally by MR examination in a 22 year-old man who suffered from headache due to a mild head trauma. Neurological examination proved to be negative. He had no complaints or symptoms a few weeks later. The developmental anomalies in corticalisation are shortly overviewed in this group together with the possible causing factors. It has been emphasized the importance of the precise intrauterine and/or postpartum differential diagnosis between schizencephaly, porencephaly and other failure in corticalisation.]

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