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Clinical Neuroscience

SEPTEMBER 30, 2019

Coexistence of cervical vertebral scalloping, pedicle deficiencies and dural ectasia in type I neurofibromatosis

YALDIZ Mahizer

Neurofibromatosis type 1 (NF-1; also known as Von Recklinghausen’s disease) is a common autosomal dominant disease that occurs in the general population at the rate of 1 in 3000. Many NF-1 patients present with spinal malformations. A 54-year-old female patient was admitted to the Outpatient Clinic of Dermatology with gradually increasing swelling and spots on the body that had been present for a long period of time. Cervical vertebral scalloping, pedicle deficiencies and dural ectasia (DE) were also detected. She was diagnosed with NF-1. NF-1 is routinely seen in dermatology practice. Coexistence of NF-1 with vertebral scalloping, pedicle deficiencies and DE rarely occurs. Our case is the second reported instance in the literature of NF-1 with a spinal anomaly in the cervical region, and the first reported instance of the coexistence of NF-1 with cervical vertebral scalloping, pedicle deficiencies and DE.

Clinical Neuroscience

MARCH 30, 2019

[Sturge Weber type 3 presenting with occipital epileptic seizure: case report ]

SERİNDAĞ Cansu Helin, EREN Fulya, KARAHAN Gökçen Muazzez, GUL Gunay, SELCUK Hakan, KARA Batuhan, SOYSAL Aysun

[Sturge Weber syndrome is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. Three distinct types were identified. Type 3 with leptomeningeal involvement alone is the rarest among other types. The reported case is a 21-years-old female patient without any known chronic disease. She admitted to the emergency department after visual symptoms and headache, followed by generalized tonic clonic seizure. EEG of the patient showed left occipital seizure activity. The contrast enhanced magnetic resonance imaging (MRI) showed left occipital leptomeningeal angioma. Digital substraction angiography (DSA) revealed minimal blushed contrast enhancement on late venous phase and lack of superficial cortical veins. Her focal seizures were under control with levatiracetam and lacosamide treatment. The reported case is unique because of the late onset presentation with focal seizure without mental retardation.]

Clinical Neuroscience

MAY 25, 2014

[Organization of National Neurofibromatosis Register and fields of its application]

HORVÁTH András, FARKAS Viktor, LANGMÁR Zoltán, BACH Rezső, NAGY Zsolt B

[Background and purpose - The neurofibromatosis is a rare genetic disease with increased tumor growing ability and different special symptoms (Riccardi-criteria). The National NF Register has been organized by NF Hungary in 2011. The idea was initiated by hungarian neurofibromatosis experts. Methods - The register contains data about the therapists, the hospitals and the patients. The data are recorded by retrospective method and followed in time, so the register can track progress. Furthermore the register has valid nutrition, physical activity and psychological data, so the users are able to make comparisons with the clinical information. Results - 225 persons are registerd in the system on NF Hungary and 37 patients belong to the NF National Register. The number of the patients, who are member of the register, is always increasing. From the 37 persons 22 are females (60%) and 15 males (40%), 18 adults (48%) and 19 underagedes (52%). Conclusion - NF Register is a very useful system to do research and to draw public health and popolazione conclusions. The register enhances the morbidity details (time of manifestation, progressione, prognostical factors, prognosis), thereby could improve the cooperation and the coverage of the patients. The system is open for the patients as well, so it can give information to the patients about new scientific results, new medical methods and current availavable medications.]

Clinical Neuroscience

JANUARY 20, 2007

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

BOBEST Mátyás, TÓTH Csaba, GYURCSÓ Mária, MOLNÁR Mária Judit, GARZULY Ferenc

[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.]

Lege Artis Medicinae

MAY 20, 2004

[NEUROFIBROMATOSIS, MALIGNANT MELANOMA AND HYPERTHYREOIDISM IN A HCV POSITIVE PATIENT]

FOLHOFFER Anikó, HORVÁTH Andrea, CSÁK Tímea, NÉBENFÜHRER László, TELKES Márta, IVÁNYI András, SZALAY Ferenc

[INTRODUCTION - Similar occirrence of neurofibromatosis and malignant melanoma is rare. We report a patient with neurofibromatosis, cutaneous melanoma, hyperthyreoidism and HCV positivity. CASE REPORT - A 43-year-old woman has been under care for neurofibromatosis for 16 years when she presented with increased serum ?- glutamyltransferase, alkaline phosphatase activity and anti-HCV antibody positivity at regular checkup. A pigmented lesion removed from her back histologically proved to be cutan melanoma. Interferon treatment was applied. She lost 8 kilograms in half a year which was caused not by the tumor progression, but hyperthyreoidism. A rapid clinical and laboratory improvement was observed for thyreostatic treatment and she regained her bodyweight. One year later she presented with a cough caused by pulmonary tumor. The tumor was surgically removed and histologically diagnosed as metastasis of melanoma. Cytostatic treatment was applied and she became asymptomatic. Four years after the diagnosis of melanoma she died of apoplexy. During the autopsy there was no sign of either melanoma or liver disease. CONCLUSIONS - The careful investigation of skin should be emphasised even in case of long established neurofibromatosis. The presented case shows an association of malignant melanoma and neurofibromatosis. In the background of loss of bodyweight even in a patient with history of malignant disease other causes should also be searched such as hyperthyreoidism especially during interferon therapy.]

Clinical Neuroscience

JULY 22, 2009

[Removal of multiple thoracic dumbbell tumours through combined hemi-semi laminectomy and minimal invasive paraspinal approach]

PAPP Zoltán

[One third of the primary spinal tumours are neurinomas. These tumours most often located intraduralyextramedullary, but 15-25 percent of the cases, the tumour extends to the paraspinal region through the neuroforamina. Spinal manifestation of Schwann-cell tumours, usually neurofibromas, can be seen in neurofibromatosis. 31 years old female patient, suffering from NF1 was operated on with a Th 3-6 and Th 10-11 dumbbell tumours. At the first step the tumour mass, located in the spinal canal, was resected through a partial hemilaminectomy. At the second operation the extraspinal tumour was resected through a minimal invasive paraspinal approach. The author present the combined use of minimal invasive spine surgical technics and discuss the benefits and disadvantages of these approaches, compared to the standard surgical procedures.]