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Background: Different surgical approaches have been described in the past to treat a trapped fourth ventricle (TFV) but, unfortunately, these techniques showed a high rate of dysfunction and complications. During the last 10 years the development of neuroendoscopy has dramatically changed the outcome of these patients. Materials and Methods: We conducted a retrospective evaluation of the safety, effectiveness, and long-term outcome of endoscopic aqueductoplasty and stent placement, performed in 18 consecutive patients with symptomatic TFV through a trans-fourth ventricle approach between 1994 and 2010. Thirteen patients underwent endoscopic aqueductoplasty and stent placement and 5 patients underwent aqueductoplasty alone using a tailored suboccipital approach through the foramen of Magendie in prone or sitting position. Results: The mean age of the patients at the time of surgery was 15.2 years. All patients but 3 had a supratentorial ventriculoperitoneal shunt. Fifteen patients presented with slit supratentorial ventricles. At a mean followup of 90.8 months all patients experienced a stable clinical improvement. Only two complications were observed: A transient diplopia due to dysconjugate eye movements in one patient and a transient trochlear palsy in another one. Conclusions: Our experience and the literature review suggest that endoscopic trans-fourth ventricle aqueductoplasty and stent placement is a minimally invasive, safe, and effective technique for the treatment of TFV and should be strongly recommended, especially in patients with supratentorial slit ventricles.

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Background: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented to Aga Khan University, Karachi. Materials and Methods: This study was a retrospective review of the medical charts of children (neonate: 15 years) with discharge diagnosis of SMA during last 10 years. Demographic features, consanguinity, and diagnostic analysis (including genetic analysis) were noted. Results: During the study period 67 children had a discharge diagnosis of SMA. Werdnig Hoffman disease (SMA type I) was the commonest variant seen in 37 (56%) children. Overall 68% were infants. High parental consanguinity was observed in 68% of the study cohort. The history of delayed development and undiagnosed early death was observed in the families of 19 children. Genetic testing was performed in 22 (33%) children. Survival motor neuron (SMN) 1 gene deletion was found in 19 (86%) of the 22 patients in whom the gene analysis was done and 13 (68%) were also positive for neuronal apoptosis inhibitory proteins (NAIP) deletion. Conclusion: SMA is not an uncommon neurodegenerative disorder in Pakistan and SMA type I was the most common type. SMN1 gene deletion was the most common genetic deletion found in this study. In addition, family history of developmental delay and frequent early deaths highlights the need for implementation of prenatal diagnosis for early detection, effective control, and management of this disorder in Pakistan.

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Ectopic pituitary adenoma with an empty sella is extremely rare. We report an unusual patient with an ectopic growth hormone-secreting pituitary adenoma in the sphenoid sinus with an empty sella. The association is related to a development disorder of the anterior pituitary tissues. Tumor in the sphenoid sinus was completely removed by endoscopic endonasal transsphenoidal approach. During the follow-up, the patient met the criteria for endocrinological cure.

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Neuronal ceroid lipofuscinosis is a group of progressive neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. This study is a retrospective review of charts of patients with a diagnosis of infantile and late-infantile neuronal ceroid lipofuscinosis seen between January 2009 and December 2011. Of the 16 patients, 5 had infantile type and 11 had late-infantile neuronal ceroid lipofuscinosis. Diagnosis was confirmed by appropriate enzyme assay. Clinical presentation was quite varied. Common presenting features included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series, and novel neuroimaging finding in the form of isolated dentate nucleus hyperintensities were noted. During follow-up, all patients had a progressive downhill course and one patient died. Prenatal diagnosis could be offered to one family. This study suggests that infantile and late-infantile neuronal ceroid lipofuscinosis is not uncommon in this region of the country and the phenotype may be different.

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This report presents a patient with medically intractable startle epilepsy who was treated with surgery. The ictal onset zone was further localized to a part of the premotor cortex on the basis of intracranial electroencephalography recording and surgical resection of the epileptogenic zone was done. The motor area close to the epileptogenic focus was localized using electrical cortical stimulation and thus preserved. Patient has been seizure-free postoperatively (Engel Class I) during the 18-month follow-up. The patient illustrates that surgery can be an option in patients with medically intractable startle epilepsy with well-defined unilateral epileptogenic zone.

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Two patients with primary actinomycotic brain infection are presented here. The first case had 2 predisposing factors, cardiac septal defect and chronic mastoiditis, whereas the second patient was a chronic smoker, belonging to a desert region. Both the patients were successfully managed with surgical debridement and prolonged administration of antibiotics.

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Objective: This study has explored the impact of Hunt-Hess (H-H) grade of aneurysmal subarachnoid hemorrhage (aSAH) on the glycemic status of such patients during their intensive care unit (ICU) stay and has also analyzed whether H-H grade predicts their outcome independent of their glycemic status. Materials and Methods: This was a retrospective case record review of prospectively maintained database of 1090 previously non-diabetic aSAH patients admitted to Thomas Jefferson University Hospital, Philadelphia. H-H grade of SAH, serum and CSF glucose on admission, serum glucose on the day of surgery and 14 days post-surgery, as well as the extended Glasgow Outcome Score (GOS-E score) at discharge were noted. After univariate analysis, significant variables (P < 0.05) were entered into a logistic regression model to identify significant associations with admission H-H grade. Results: Although admission serum glucose was significantly higher for H-H grades 4-5 than grades 1-3 (P < 0.001); after postoperative day 4, the difference between the H-H grades got blurred. Admission CSF glucose was also significantly higher for H-H grades 3-4 than for grades 1-3 and 5 (P < 0.001). H-H grades 4-5 were related with higher incidences of both hypoglycemia (serum glucose level < 80 mg/dl) and hyperglycemia (serum glucose level > 200 mg/dl) (P < 0.001) during the 14-day period of ICU stay. Also, the relationship between serum and CSF glucose levels at admission increased with HH grades 1 through 4, but became negative and more tightly bound at H-H grade 5. Admission H-H grades 4-5 contributed to poor outcome compared to lower H-H grades (P < 0.0001). Conclusion: Poor admission H-H grades lead to poor immediate glycemic status as well as poor short-term outcome, and it is dependent on serum glucose but independent of CSF glucose in predicting the outcome.

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Objective: To report patients with intracranial wide-necked or complex aneurysms who underwent Solitaire stent-assisted coil embolization. Materials and Methods: Retrospective analysis of 28 patients with intracranial wide-necked or complex aneurysms. Eighteen of the patients presented with an acute subarachnoid hemorrhage. Thirty-one aneurysms were treated with the support of different applications (n = 32) of the Solitaire AB stents followed by the standard coiling procedure (n = 30). Results: Successful positioning of the remodeling device was obtained in all the cases. One stent required repositioning after full deployment. There were four thromboembolic complications (12.5%) and two hemorrhagic complications (6.25%), which caused three deaths. No permanent procedural morbidity was observed in the surviving patient. Angiographic results included 26 complete occlusions (83.9%), three neck remnants (9.7%) and two incomplete occlusions (6.4%). Conclusion: Although the initial technical and clinical results of Solitaire stent-assisted coiling of aneurysms was reported to be encouraging in recent reports, we had encountered higher thromboembolic and hemorrhagic complications in our patients.

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Background: Computed tomography angiography (CTA) is a rapid, non-invasive procedure with a small risk for evaluating patients with various types of strokes. But the effectiveness of CTA in detecting the etiology of spontaneous intracerebral hemorrhage (SICH) has not been well established. Aim: To evaluate the diagnostic value of CTA for detecting underlying vascular abnormalities in patients with SICH. Settings and Design: This is a comparative study to evaluate the diagnostic accuracy of CTA and digital subtraction angiography (DSA) in SICH. We also did a meta-analysis, combining our results with those of all previous studies to determine a more precise estimate of CTA in detecting the etiology of SICH.. Materials and Methods: Between July 2009 and October 2011, CTA and DSA were routinely performed in consecutive young patients (age between 18 and 45 years) with acute non-hypertensive SICH. Imaging data were prospectively stored in the database for analysis. Statistical Analysis: The sensitivity, specificity, positive predictive values (PPV), negative predictive values (NPV), and accuracy were used for evaluating the diagnostic value of CTA for vascular lesion. Results: This study included 92 patients. The sensitivity, specificity, PPV, NPV, and accuracy of CTA for detecting DSA-positive pathologies were 94.6%, 100%, 100%, 96.5%, and 97.8%, respectively. A total of 544 cases were included for meta-analysis. The pooled sensitivity, specificity, PPV, NPV, and accuracy of CTA for detecting the etiology in SICH were 95.4%, 98.3%, 96.9%, 97.4%, and 97.2%, respectively. There was no substantial heterogeneity between the studies. Conclusions: CTA has high PPV and NPV for vascular pathologies. It should be performed as the initial vascular investigation for patients with acute SICH. Future technical advancement of CTA is still needed to eliminate the false-negative results.

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Extramedullary hematopoiesis is a compensatory response in patients with thalassemia and other chronic anemia and can result in compressive myelopathy, if untreated. Two young adults with history of thalassemia presented with symptoms of spinal cord compression. Presence of extramedullary hematopoiesis was confirmed by magnetic resonance imaging. Both the patients were treated with blood hypertransfusion and showed improvement clinically and radiologically. Although there are various options in the management of such condition, including decompression surgery and radiation treatment, hypertransfusion can be very effective even in severe compression of the spinal cord. Hypertransfusion should be tried as the first line of management in patients with thalassemia presenting with compressive myelopathy to decrease the bulk of extramedullary hematopoietic tissue.

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Objectives: To assess changing trends in clinical characteristics and early outcome of patients with acute cardioembolic stroke (ACS) over a 19-year period. Materials and Methods: Data of 575 patients with first-ever ACS included in the Sagrat Cor Hospital of Barcelona Stroke Registry were analyzed. Changing trends for 1986-1992, 1993-1998, and 1999-2004 periods were compared. Results: A statistically significant increase (P < 0.001) in the age of patients (74.6 years in 1986-1992 vs. 81.4 years in 1999-2004) and the percentage of patients older than 85 years of age (16% vs. 38.2%) was observed. Patients with hypertension increased from 40.5 to 60.8% (P = 0.001) as were patients with diabetes, chronic bronchitis, and obesity (P = NS). The median length of hospital stay decreased from 18 to 12 days (P = 0.031) and prolonged hospital stay (>12 days) from 18.3 to 13.1 (P = 0.033). In-hospital death rate remained around 20%. Conclusions: ACS continues to be a severe ischemic stroke subtype with high risk of in-hospital death. The lack of improvement in the early prognosis over a 19-year period may be explained by an increase in the prevalence of major cardiovascular risk factors and progressive aging of the population.

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