Third ventricle herniation into the sphenoid sinus following endoscopic transnasal transsphenoidal fenestration of Rathkes cleft cyst.

Rathke cleft cyst (RCC) is an uncommon albeit benign sellar lesion with an incidence rate of between 2 to 33%. RCCs are usually asymptomatic except in the large cases whit suprasellar extension. We herein describe a unique case of RCC, which presented with severe visual loss owing to massive herniation of the optic chiasm and third ventricle down into the sphenoid sinus through a small 8 x 8 mm foramen after transnasal endoscopic surgical fenestration and marsupialization of the cyst. We describe a reconstruction method via endonasal transsphenoidal approach in this case and suggest prophylactic reconstruction of the sellar floor in sellar lesions with equal or more voluminous suprasellar extensions that are susceptible to such massive herniation and secondary empty sella syndrome.

Computed tomography-guided stereotactic biopsy of intracranial lesions in pediatric patients.

PURPOSE: The primary objective of this study was to report the results of author's 18-year experience of diagnostic stereotactic biopsy procedures in children with intracranial lesions. METHODS AND MATERIALS: A retrospective analysis was conducted on stereotactic procedures performed on children with brain tumor between 1989 and 2007. RESULTS: Stereotactic biopsy of intracranial tumors was performed in 172 children (69 girls, and 103 boys) with the mean age of 9.17 ± 3.66 years at the time of diagnosis. The most frequent anatomical location of lesions was brainstem (45.9%). Glioma was the most common diagnosis, represented in 90.7% of patients (156 patients). Other diagnosed tumors (4.7%) were classified as metastatic (1.7%), lymphomas (1.2%), oligodendroglioma (0.6%), craniopharyngioma (0.6%), and pineocytoma (0.6%). Nonneoplastic lesions were revealed in 4.7% of patients. CONCLUSION: The most frequent brain pathology of children is glioma, but the incidence of brain lesions other than gliomas and the frequency of brain lesions in the inoperable areas are compelling reasons to establish tissue diagnosis.

PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.

We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi-quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription-polymerase chain reaction (RT-PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT-PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ-I and PINK1 were also screened. Two novel DJ-1 mutations, c.91-2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ-1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients.

Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.

The results of mutation screening of 24 exons of LRRK2 in 60 Iranian Parkinson's Disease patients are presented. The Iranian cohort represents a novel population and was notably young (average age at onset of disease: 36.0 years). Fifty sequence variations were found, seventeen of which are novel. Variations considered possibly associated with disease were screened in available family members, 145 additional patients and 220 control individuals. It was surmised that four novel sequence variations (IVS49+178A>G, p.R1725Q, p.Q1823K, and p.D2175H) may be associated with PD status, albeit they may be very rare non-disease associated variations. The four variations were all observed in the heterozygous state in early onset cases. If one or more of the variations do indeed contribute to disease status, their penetrance is expected to be low.

A clinic-based screening of mutations in exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's disease patients.

We present results of mutation screening of exons 31, 34, 35, 41, and 48 of LRRK2 in 205 Iranian Parkinson's disease patients. Sixteen percent of the cases were familial. Although age was not a factor in patient recruitment, the Iranian cohort was relatively young (average age at onset of disease: 48.9 years). A notably high male to female ratio (2.96:1) and earlier age at onset (by 2.9 years) in men were observed. A known disease-associated variation, c.C4321T causing R1441C, and IVS31 + 3A > G, a variation that may be associated, were observed. Therefore, disregarding IVS31 + 3A > G, disease status in at least 0.5% of our young cohort and in 3.5% of the familial cases was associated with a mutation in the five exons of LRRK2 screened. Interestingly, the variation causing p.G2019S was not observed.

Cerebral lymphoma: clinical and radiological findings in 90 cases.

BACKGROUND: Cerebral lymphoma is a rare non-Hodgkin's lymphoma, which involves the brain primarily or after systemic involvement. Because of its infiltrating nature and its sensitivity to radio- and chemotherapy, surgical removal has a limited role in its treatment and only a stereotactic biopsy is necessary for confirming the diagnosis. METHODS: The data from all cases in whom the cerebral lymphomas were pathologically confirmed and were admitted to the Neurosurgery Department of Shohada Hospital for stereotactic biopsy during a 15-year period were analyzed retrospectively. RESULTS: The male to female ratio was 1.3:1 and the mean age was 51.7 years. Sixty-seven percent of the patients had multiple lesions and the remainder had solitary lesions. The most common site of involvement in patients with multiple lesions was diencephalon and in patients with solitary lesions was frontal lobe. The mean duration from symptom presentation to stereotactic biopsy was three months. Systemic lymphoma was detected in nine patients and three patients had a history of immunosuppressive drug consumption. The most common presenting symptom was headache in 42% and the most common sign was paresis in 59% of the patients. In 53 patients, follow-up was performed by phone call. Of these, seven cases had died without treatment in an average of 40 days after diagnosis, 28 patients died despite adjuvant treatment in an average of 8.5 months, and 18 cases were alive by the time of last follow-up with average of 17 months. Overall survival of the treated group was 12 months. CONCLUSION: There was no mortality related to stereotactic biopsies in these patients.