A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient.

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance imaging (MRI) revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts. The diagnosis of Van der Knaap disease was suspected based on the clinical features and imaging findings and the genetic analysis revealed a novel homozygous c.768+2T>C mutation of the MLC1 gene. For determination of the novel splice-site mutation's effect, cDNA amplification was performed. cDNA analysis showed that the splice-site c.768+2T>C mutation gave rise to exon 9 skipping.

The diagnostic importance of coagulation parameters in cattle having natural theileriosis.

The purpose of this study was to determine the diagnostic importance of coagulation parameters in cattle with natural theileriosis. Nine Holstein cross-breed cattle with theileriosis as infected group and 6 healthy Holstein cattle as control group were used in the present study. Mean fibrinogen level, thrombin time (TT), activated partial thromboplastin time (aPTT) and prothrombin time (PT) were not statistically different when control and infected groups compared, except for the D-dimer concentration. Quantitative D-dimer concentrations were determined by immune-turbidimetric assay. D-dimer values increased significantly (p<0.05) in infected group (631.55 ± 74.41 µg/L) compared to control group (370.00 ± 59.94 µg/L). D-dimer sensitivity and specificity were also determined at cut-off concentrations (372 µg/L). Sensitivity and specificity of D-dimer values were determined to be 88.89% and 83.33%, respectively. D-dimer is thought to be important indicator in the evaluation of the prognosis in theileriosis cases. Analysis of D-dimer values before and after treatment in controlled case studies were suggested in future studies to enlighten the issue.

The frequency of lung cancer in patients with pulmonary hamartomas: An evaluation of clinical, radiological, and pathological features and follow-up data of 96 patients with pulmonary hamartomas.

PURPOSE: To investigate the frequency of lung cancer in patients with pulmonary hamartomas and to evaluate clinical, radiological, and pathological characteristics of pulmonary hamartomas. BASIC PROCEDURES: We reviewed pathology records of pulmonary hamartomas diagnosed between 2003 and 2014. Medical records and the hospital electronic database were also reviewed for each patient to obtain clinical, radiological, and pathological characteristics of pulmonary hamartomas and accompanying malignancies. MAIN FINDINGS: Ninety-six patients with pulmonary hamartomas were identified. There were 26 females (27%) and 70 males (73%), with a mean age of 56.2 years (range 22-87 years). Malignancies were detected in 23 patients (24%), which developed previously in five patients (1 synchronous, 4 metachronous lesions), and concomitantly in 18 patients (with origin from the lung in 17 patients and from the pleura in 1 patient). PRINCIPAL CONCLUSIONS: Our results show that patients with pulmonary hamartomas may have coexisting lung malignancies.

Extralobar pulmonary sequestration: a case report.

We described the case of a 36-year-old Turkish female with an extralobar pulmonary sequestration who suffered from chest and back pain for five years without any evidence of pulmonary infection. A chest X-ray showed an area of opacity behind the cardiac silhouette in the lower area of the left hemithorax. A CT scan of the thorax with intravenous contrast showed a 9 x 7 cm in size ovoid mass with necrosis in the lower left lobe. It revealed two aortic branches directed toward the pulmonary opacity. She subsequently underwent surgery and the anomalous tissue was removed by mass excision. The patient was diagnosed with extralobar pulmonary sequestration.

Intraarterial Thrombolysis with r-tPA for Treatment of Anterior Circulation Acute Ischemic Stroke. Technical and Clinical Results.

SUMMARY: To investigate factors effecting the safety and recanalization efficacy of local intraarterial (IA) recombinant tissue plasminogen activator (r-tPA) delivery in patients with acute ischemic stroke. Eleven patients with anterior circulation acute ischemic stroke were treated. The neurological status of the patients were graded with the Glasgow Coma Scale (GCS) and National Institute of Health Stroke Scale (NIHSS). All patients underwent a computed tomography (CT) examination at admission. In addition four patients had diffusion-weighted and one patient had a perfusion magnetic resonance (MR) examinations. Patients were treated within six hours from stroke onset. Immediate, six hours, and 24 hours follow-up CT examinations were performed in order to evaluate the haemorrhagic complications and the extent of the ischemic area. The Rankin Scale (RS) was used as an outcome measure. Two of the 11 patients had carotid "T" occlusion (CTO), nine had middle cerebral artery (MCA) main trunk occlusion. Four patients had symptomatic haemorrhage with a large haematoma rupturing into the ventricles and subarachnoid space. Of these, three patients died within 24 hours. The remaining seven patients had asymptomatic haematomas that were smaller compared to symptomatic ones, and showed regression in size and density on follow-up CTs. At third month five patients had a good outcome and three patients had a poor outcome. In acute ischemic stroke, local IA thrombolysis is a feasible treatment when you select the right patient. Haemorrhage rate does not seem to exceed that occuring in the natural history of the disease and in other treatment modalities.

MR imaging, CT, and angiography features of endolymphatic sac tumors: report of two cases.

Low-grade adenocarcinoma of endolymphatic sac origin is a rare tumor of the temporal bone. There are some difficulties in its differential diagnosis from other vascular and non-vascular tumors of the temporal bone. However its radiological differentiation from other tumors of the temporal bone is important for surgical planning. We present a report on two endolymphatic sac tumors with some specific radiological findings which can support a correct diagnosis.

Determining optimal MRI follow-up after transsphenoidal surgery for pituitary adenoma: scan at 24 hours postsurgery provides reliable information.

There is no agreed-upon schedule for MRI follow-up after pituitary adenoma removal via the transsphenoidal approach. Our aim was to establish a plan for MRI follow-up after pituitary surgery. Eighty pituitary adenoma cases (25 microadenomas, 30 macroadenomas that did not infiltrate the cavernous sinus, and 25 macroadenomas with cavernous sinus infiltration) were prospectively studied with MRI following tumor resection via the transsphenoidal approach. Each patient was imaged at 24 hours, at 3, 6 and 9 months, and at 1 year or more postsurgery. The parameters studied were residual tumor, synthetic packing material (Gelfoam) versus fat graft, and normal pituitary, hypophyseal stalk and optic chiasma. The size of the pituitary structure as a whole was also measured. The latter was studied quantitatively, and the findings for the rest of the parameters were evaluated qualitatively, based on the examiners' confidence in their assessment. The final MRI study, done at least 1 year postsurgery in all cases, was considered the reference MRI for all scans. MRI performed 24 hours after surgery was diagnostically accurate for residual tumor and valuable for visualizing normal sellar structures. The findings also showed that fat packing takes longer to resorb than Gelfoam, but produces no potentially confounding contrast enhancement. An algorithm based on the results is presented for postsurgical MRI assessment of pituitary adenoma patients in which the scan at 24 hours postsurgery is the major factor that determines the timing of later rechecks.

Cerebral vein thrombosis in Behçet's disease.

Behçet's disease is a chronic, relapsing multisystem disorder, and nervous system involvement is one of the serious manifestations. Neuro-Behçet is rarely reported in children and may present with a wide variety of symptoms because the entire neuraxis may be affected. A case of cerebral vein thrombosis secondary to Behçet's disease is presented. The patient has recovered without any visual loss and had no complaints at 1-year follow-up.

Cervical neural foraminal widening caused by the tortuous vertebral artery.

A case of cervical neural foraminal widening due to tortuous vertebral artery is presented. This entity is rarely seen. Plain radiography, CT, 3-D CT angiography, MRI, and MRA findings of the case are presented and the importance of this vascular anomaly in the differential diagnosis of neural foraminal widening is discussed.

A rare cause of hyperprolactinemia: persistent trigeminal artery with stalk-section effect.

The primitive trigeminal, otic, hypoglossal, and proatlantal intersegmental arteries are fetal anastomoses between the carotid and vertebrobasilar systems. Persistent trigeminal artery (PTA) is the most frequent embryonic communication between the vertebrobasilar and carotid systems in adults. We report a case of PTA compressing the left side of the pituitary gland and stalk, in a patient with elevated blood prolactin level.

Cervical spinal cord intramedullary abscess. Case report.

A case of progressive symptoms and signs of cervical spinal cord damage due to intramedullary abscess is reported. The literature is reviewed and the radiological features, particularly magnetic resonance image, are analyzed.

Middle cerebral artery duplication associated with multiple intracranial aneurysms. Case report.

We present a case of middle cerebral artery (MCA) duplication associated with ipsilateral distal MCA and contralateral MCA bifurcation aneurysms.

Tumor in tumor: metastasis of breast carcinoma to intracranial meningioma.

This report presents magnetic resonance imaging (MRI) findings of a breast carcinoma metastasis in an intracranial meningioma with correlated pathological findings. MRI showed multiple foci of intense enhancement with hypointense surrounding areas. The described foci appeared to be metastatic disease from the patient's known breast carcinoma. In addition, this is the first study reported in the literature to have investigated the expression of a possibly common carcinogenic molecule in breast carcinoma metastatic to a coexisting meningioma: overexpressed c-myc oncogene was found both in the breast carcinoma compartment and in the meningioma component of the tumor.

Diastematomyelia and spinal teratoma in an adult. Case report.

Diastematomyelia, or split cord malformation, a complete or incomplete sagittal division of the neural axis into halves, is seen in association with many other congenital anomalies. Among these anomalies, intradural spinal teratoma is extremely rare. Diastematomyelia is a well-recognized although unusual clinical syndrome in children, but it is rarely reported in the adult. The authors describe a 42-year-old man who presented with pain and distal left-leg weakness as well as neurogenic claudication for 1 month. The patient underwent radiological examinations, and diastematomyelia and an intradural lumbar teratoma were diagnosed. He underwent surgery and was followed for 1 year. This is the fourth case of an adult who simultaneously presented with diastematomyelia and an intradural teratoma.

Magnetic resonance imaging characteristics of benign macrocephaly in children.

Benign macrocephaly of infancy is a common problem in the child neurology practice. The radiologic features of this entity are not well defined. In most of the previous studies, macrocephalic patients were evaluated by computed tomography. To define the radiologic characteristics of this entity, 20 children with macrocephaly with normal neurologic examinations were enrolled in the study. All the patients were evaluated by magnetic resonance imaging studies. Sixty-five percent of patients had enlargement of the subarachnoid space and 35% of patients had megalencephaly. None of the patients had subdural collections. The mean age of patients with enlargement of the subarachnoid space was found to be younger than those with megalencephaly. The cases with parental histories of macrocephaly demonstrated both enlargement of the subarachnoid space and megalencephaly. Our results suggest that the radiologic finding of benign macrocephaly can be both enlargement of the subarachnoid space and megalencephaly.

Sagittal sinus thrombosis associated with thrombocytopenia: a report of two patients.

Reported are two patients presenting with both thrombocytopenia and sagittal sinus thrombosis. The first patient is a 42-month-old male with no identified thrombophilic risk factors who developed acute neurologic symptoms after an acute infection. The second patient is a 22-month-old female with no history of preceding infection but had a positive lupus anticoagulant test. She also developed deep venous thrombosis and was treated with intravenous heparin. Both patients are currently doing well without neurologic deficits. To the authors' knowledge the second patient is the youngest reported patient with cerebral vein thrombosis associated with thrombocytopenia and lupus anticoagulant. These observations call attention to the need for a thorough investigation of thrombophilic risk factors in pediatric patients with thrombotic complications.