The association of Alagille syndrome and craniosynostosis.

Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jagged1 gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.

Fenestration methods for Sylvian arachnoid cysts--endoscopy or microsurgery.

INTRODUCTION: Two different approaches to fenestration, endoscopic and microsurgical, are in use for Sylvian arachnoid cysts (SACs), the most frequent among intracranial arachnoid cysts. We presented the clinical data and compared our results, with regard to technique and clinical success, with either microsurgical or neuroendoscopic fenestration of SACs. MATERIALS AND METHODS: Twenty-nine patients who subjected to cysto-cisternostomy by the same team, using either of the two methods, were studied retrospectively. RESULTS: Thirteen patients underwent microsurgery, and 16 had endoscopic cysto-cisternostomy. No reoperation was needed in either of these groups, i.e., full clinical and radiological success was achieved in both. The complication rate was 23% in the microsurgery patients and 47% in the endoscopic surgery group, with no statistically significant difference. CONCLUSIONS: No relevant differences between the two methods are seen either in the published data or in our results. Adding our results to the published data, both techniques were reviewed in a discussion of the one that allows a better controlled or safer fenestration. We conclude that endoscopic fenestration of SACs is not superior to microsurgical cyst fenestration, and the latter seems safer.

Cerebro-spinal fluid shunt revisions, importance of the symptoms and shunt structure.

AIM: CSF shunt failure is still a frequent problem in children. This prospective study was designed for focusing symptoms and reasons of shunt failure. We also especially focused on the mechanical reasons of shunt failure. MATERIAL AND METHODS: We focused on the causes of shunt failures, and the symptoms and signs in patients who were operated for shunt malfunction between January 1, 2001 and December 31, 2005 in the neurosurgery department. All examination and operative data were collected prospectively. Evaluation of these data was with the chi-square and Fisher exact tests. RESULTS: After the evaluation of data on 111 patients and 153 revision procedures, the major symptoms in this group were vomiting (62.16%), somnolence (59.45%) and headache (48.64%). In the majority of the shunt revisions (115 operations, 75.2% of the all 153 procedures), one or more mechanical problems of the shunt systems were identified in surgery. CONCLUSION: Shunt failures in children sometimes appear with very unusual symptoms. Also, probable structural problems of the shunt systems seem very important for shunt failure according to patient characteristics and etiology of the hydrocephalus. A systematic approach including CT, shunt series and abdominal ultrasound is needed to rule out shunt malfunction.

Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases.

BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare aggressive infantile neoplasm of uncertain origin. This study was performed to assess the clinicopathologic and immunohistochemical features of four AT/RT cases. CASE REPORTS: Two cases were male and two were female, and their ages ranged from 8 to 103 months. Tumors were located in the cerebellum (two cases), frontoparietal lobe (one case), and third ventricle (one case). Histopathologically, the tumors were composed of rhabdoid cells and undifferentiated small cells mixed with epithelial or mesenchymal components. However, one of the tumors was composed predominantly of a mesenchymal component mimicking a sarcoma. Immunohistochemically, vimentin (4/4), epithelial membrane antigen (4/4), cytokeratin (3/4), smooth muscle actin (4/4), glial fibrillary acidic protein (4/4), S-100 (4/4), and synaptophysin (1/4) were positive in varying proportions, while desmin and INI-1 were negative in all the cases. All of the patients died within a mean of 14 months due to tumor progression despite the chemotherapy. Only one of our patients lived for 40 months after the diagnosis. In conclusion, AT/RTs are aggressive tumors. They can occur in a variety of locations, such as the third ventricle. Morphologically, a large spectrum can be seen, like predominantly sarcoma in appearance, but immunohistochemistry is helpful in the correct diagnosis.

Medulloblastoma: clinicopathologic evaluation of 42 pediatric cases.

PURPOSE: The aim of this study was to assess the prognostic value of MIB-1 and p53 in the pediatric medulloblastoma group. MATERIALS AND METHOD: Forty-two pediatric medulloblastoma cases diagnosed in a single institution during the past 10 years were evaluated. Follow-up data were available for 35 patients. RESULTS: The immunoreactivity of MIB-1 ranged from 10% to 95%; p53 immunoreactivity was found in five cases. Of the 35 patients with follow-up, 34 patients received a combination of chemotherapy and radiotherapy, while one received chemotherapy alone. The follow-up period ranged from 5 to 64 months. Of the 35 patients, 21 were alive without any evidence of recurrent disease, three were alive with evidence of recurrent disease and 11 died of disease during follow-up. The mean survival for these 11 patients was 21.9+/-10.4 months. Of the 35 cases, 16 had MIB-1 value of 25% or lower and 19 had a value of 26% or more. Of the 16 cases with low MIB-1 value, six died of disease; of the 19 cases with high MIB-1 value, five died of disease. The statistical difference between MIB-1 and prognosis was not significant. Three of the 35 (8.5%) cases were found to be positive with p53 protein; no correlation was observed between p53 immunoreactivity and prognosis. CONCLUSION: It appears that the MIB-1 value and p53 immunoreactivity have no relation with prognosis in pediatric medulloblastomas. However, it is convenient to support these findings with large series.

Melanotic progonoma of the skull in infancy.

INTRODUCTION: Melanotic progonoma or melanotic neuroectodermal tumor is a rare tumor in infancy. This lesion has to be considered in the differential diagnosis of benign or malignant lesions of calvarium. CASE REPORT: The authors present a case of a 4-month-old infant with left retroauricular mass. The patient had a subcutaneous mass that is fixed to the underlying skull. CT and MRI scans showed left occipitotemporal expansile mass. The tumor was removed by surgery. A tumor, brownish-black in color, was diagnosed as melanotic progonoma. The patient remained symptom-free for the last 2 years after complete surgery. DISCUSSION: Extracranial subcutaneous masses involving the skull are uncommon in infants. Benign or malignant lesions may occur as lumps on calvarium. Physical examination and some laboratory findings are helpful in the assessment of patient. Benign or malignant lesions can be differentiated by craniography, CT, or MRI scans, but exact diagnosis of melanotic progonoma is made by histopathology and immunostaining, as was in the presented case. Cranial vault progonomas have a better outcome by complete surgery. The tumors usually do not recur in long-term period.

Endoscopic treatment of suprasellar arachnoid cysts.

OBJECTIVE: Arachnoid cysts constitute 1% of all intracranial mass lesions not resulting from trauma. Suprasellar arachnoid cysts (SACs) are uncommon. Obstructive hydrocephalus is the most common cause of initial symptoms and occurs in almost 90% of the patients with suprasellar arachnoid cyst. We report on 17 patients with suprasellar arachnoid cyst who were treated with neuroendoscopic intervention. MATERIALS AND METHODS: Seventeen patients with SAC had been operated on between 1999 and 2007 in our institution. Five patients had previously undergone shunting procedures or craniotomy. Nine boys and eight girls ranged in age from 4 months to 17 years (mean 53.2 months). All patients had hydrocephalus. A wide ventriculocystostomy (VC) or a ventriculo-cysto-cisternostomy (VCC) was done by using rigid neuroendoscopes. Psychometric evaluation was administered postoperatively, when possible. Follow-up of the patients ranged from 6 months to 7 years (mean 41.6 months). RESULTS: Of the 17 patients, 12 underwent endoscopic procedure as the primary surgery. VC only was performed in the first patient. In the remaining 16 patients, VCC was done. A slit-valve mechanism was observed in 14 patients. Three patients needed a VP shunt, despite a successful VCC. Three of five patients, younger than 1 year of age became shunt dependent and none of the patients older than 1 year of age needed shunting. In four patients presented with shunt malfunction, the shunts were removed after endoscopic surgery. Only one subject's total score was under the normal IQ limits but her subtests scores were heterogeneous. However, there was marked discrepancy among her subtests scores. CONCLUSION: Endoscopic surgery should be the first choice in the management of SACs. Neuroendoscopic VCC is successful in the majority of the cases.

Craniopharyngiomas in children: Turkey experience.

OBJECTIVES: Craniopharyngiomas are the most frequently encountered suprasellar tumors in children. Although they have a benign histology, total resection without morbidity is very difficult. METHODS: We aimed to review the results of pediatric craniopharyngioma patients treated in eight institutions in Turkey. There were 51 boys and 36 girls, ranging in age from 20 months to 18 years (mean 10.2 years). The most frequent symptom was headache, followed by visual disturbances. Hydrocephalus was seen most frequently in tumors greater than 4 cm in size (P=0.002). Hydrocephalus was associated with the decreased gross total resection (P=0.043). The recurrence (28%) was significantly higher in patients with subtotal and partial tumor removal (P=0.010). Bad outcome was significantly associated with tumor dimension (P=0.039); the greater the tumor dimension, the worse the outcome. Outcome was significantly better in patients older than 10 years (P=0.032). Gender, tumor type and location, presence of hydrocephalus and calcification, histological type of craniopharyngioma, and surgical approach did not have a significant effect on the outcome. CONCLUSIONS: The treatment should be individualized and a multidisciplinary approach should be used. The goal of surgery should be gross total removal without mortality and with acceptable morbidity.

Thrombosis and thrombophilebitis of the internal jugular vein as a very rare complication of the ventriculoatrial shunt.

A 21-year-old man presented with a sausage shaped mass lesion, located in the right anterolateral region of the neck. He had been operated on for hydrocephalus and thoraco-lumbar myelomeningocele at the age of 10 days and 2 months, respectively. Although he was asymptomatic at the age of 10 years, ventriculoatrial (VA) shunt was considered non-functional. Doppler ultrasound showed thrombosis of the right internal jugular vein. Cervical magnetic resonance imaging displayed thrombosis and thrombophilebitis of the right internal jugular vein with loss of flow pattern. VA shunt was removed under general anesthesia and shunt material sent for culture. Staphylococcus aureus grew from the culture of shunt material. A cephalosporin (cefuroxime axetil) was administered and the neck mass disappeared in 4 weeks. He has been symptom free for the last 5 years. VA shunts for hydrocephalus have some well-defined specific complications. In this paper, a case with VA shunt related thrombosis and thrombophilebitis of internal jugular vein was presented and management of VA shunt related cardiovascular complications were discussed.

Radiotherapy-induced secondary cranial neoplasms in children.

BACKGROUND: Secondary malignant neoplasms (SMN) in CNS tumor survivors has become problem of increasing concern over the last 20 years. These tumors usually occur in a different site from the primary brain tumor several years after treatment. CASE REPORT: We report secondary cranial malignant neoplasms in three patients who were treated with irradiation and chemotherapy for their primary brain tumors. The first case is a male survivor of an orbital rhabdomyosarcoma who developed a meningioma 8 years later. The other two cases are female survivors of ependymomas who were irradiated at the age of 3 and developed secondary gliomas 8 and 17 years after therapy respectively. CONCLUSION: Patients carry a risk of developing SMNs many years later since irradiation is still an important part of the treatment. An SMN may have a benign course, as in meningioma, or be a dilemma for the patient, as in glioblastoma.

Single photon emission tomography following posterior fossa surgery in patients with and without mutism.

MATERIALS AND METHODS: We designed a prospective study to investigate single photon emission tomography (SPECT) findings in patients with or without mutism who had undergone posterior fossa surgery. These patients had a (99m)Tc-hexamethylpropyleneamine oxime-SPECT scan postoperatively. SPECT was performed between the 1st and 2nd week after surgery. The patients with cerebellar mutism had a second SPECT scan after regaining their power of speech. The patients were evaluated in terms of age, gender, preoperative and postoperative neurological and radiological findings, tumor size and location, vermian incision and histopathology. RESULTS: Six girls and 5 boys, ranging in age from 3 to 11 years who had undergone posterior fossa tumor surgery were included in this study as controls. Their tumors were located in the vermis and fourth ventricle in 8 patients, in the cerebellar hemisphere in 1, fourth ventricle in 1, and 1 patient had a fourth ventricular tumor extending the cerebello-pontine angle. The histopathology of the tumors was as follows: astrocytoma in 5 patients, ependymoma in 3, medulloblastoma in 1, dermoid tumor in 1, and choroid plexus papilloma in 1 patient. Postoperative cerebellar mutism developed in 2 girls and 1 boy whose ages ranged from 2 to 5 years. Pathological examination revealed 2 medulloblastomas and 1 ependymoma. Mutism developed 2 to 4 days after surgery. All of the patients with cerebellar mutism showed either clinical or radiological signs and symptoms of brain stem involvement. SPECT findings were similar in the patients with cerebellar mutism and in those without. CONCLUSIONS: SPECT findings are not specific enough to explain how cerebellar mutism occurs. Clinical signs of brain stem involvement seem to be a significant risk factor in the development of cerebellar mutism.