George A. Alexiou

Dandy-Walker malformation: analysis of 19 cases.

Dandy-Walker malformation is a congenital disorder that involves the cerebellum and fourth ventricle. Regarding treatment, there is still controversy over the optimum surgical management. In the current study, we present 19 consecutive cases of Dandy-Walker malformation diagnosed between January 1992 and January 2008 that were treated in our institute. All patients presented with hydrocephalus at the time of diagnosis and were treated surgically. Combined drainage of the ventricular system and posterior fossa cyst, using a 3-way connector was performed in 5 patients. Posterior fossa cyst drainage alone was performed in 10 patients and the remaining 4 patients were treated by ventricular drainage alone. All patients improved after treatment. Dandy-Walker malformation is a developmental abnormality of the central nervous system associated with various brain and extracranial abnormalities. Surgical treatment remains controversial, whereas prognosis varies greatly according to the severity of syndrome and associated comorbidities.

Propranolol treatment for a giant infantile brain cavernoma.

A term infant with Crouzon syndrome underwent a computed tomography (CT) study to rule out the presence of hydrocephalus. Computed tomography revealed hydrocephalus, a large cerebrospinal fluid cyst in the posterior fossa and hypoplastic cerebellar hemispheres with a winged appearance, consisting of Dandy-Walker malformation (Figure 1). The patient underwent a cystoperitoneal shunt insertion to alleviate pressure, and a craniofacial reconstructive procedure was performed at a later time. Crouzon syndrome is a genetic disorder characterized by cranial synostosis, exophthalmos, and midface hypoplasia. The birth prevalence has been calculated to be 16.5 cases per 1 000 000 live births and constitutes approximately 4.8% of all cases of craniosynostosis. Patients with Crouzon syndrome often develop hydrocephalus that requires treatment. Dandy-Walker malformation is a congenital disorder that is characterized by cerebellar dysgenesis, cystic dilation of the fourth ventricle, and large posterior fossa with elevation of the dural sinuses and tentorium. Although Dandy-Walker malformation is usually associated with several other disorders, to our best knowledge this is the first reported case of a patient with Crouzon syndrome. Physicians should be aware of this potential coexistence, given that both disorders have been associated with mental retardation and may act synergistically.

Extraventricular Neurocytoma in a Child: Case Report and Review of the Literature

Neurocytomas are relatively rare central nervous system tumors first described in intraventricular sites but increasingly recognized in the brain and spinal cord parenchyma. Herewith, we report a case of a 3-year-old girl with generalized seizures. Computed tomography and magnetic resonance imaging revealed a lesion in the left frontal lobe. Angiography showed minimal vascularity. The tumor was totally excised. Histopathologic examination demonstrated an extraventricular neurocytoma. On follow-up magnetic resonance imaging after 1 year, no evidence of tumor recurrence was noted. Cerebral neurocytomas are histologically low-grade tumors and radical surgery is curative; they should be included in the differential diagnosis of cerebral tumors in children.

Desmoplastic Infantile Ganglioglioma

Desmoplastic infantile gangliogliomas (DIG) are rare intracranial tumors that typically occur in infants and involve the cerebral cortex and the leptomeninges. They are usually very large in size and partially cystic. Total resection, if possible, is the treatment of choice, without the need for further adjuvant therapy. We report 2 cases of DIG. In both cases, computed tomography and magnetic resonance imaging revealed supratentorial mixed cystic and solid tumors, which presented as large cystic components with intense contrast enhancement of a mural nodule. The tumors were completely removed by surgery. The histological diagnosis was DIG. On follow-up examinations no tumor recurrence was noted.

Intracranial Meningiomas in Children

Background/Aims: Meningiomas, although common in adults, are rare in infancy and childhood. We present a single institution experience of children with meningiomas and a comparison of our findings with other published data. Methods: We reviewed the files of 352 children harboring a brain tumor, over a 16-year period. Eight cases of meningioma were verified (2.2%). All patients had been operated on and then had regular follow-up examinations. Results: There were 6 males and 2 females. The most common symptom was seizures. All tumors were intracranial and all patients underwent a gross total resection of the lesion. Six meningiomas were typical, whereas 2 patients had an atypical meningioma. After a mean 7-year follow-up period, all patients were in excellent condition, without evidence of tumor recurrence. Conclusion: Meningiomas, although rare, constitute a challenging problem. Gross total resection should be the goal and when it can be accomplished, the prognosis is excellent.

Cranial unifocal Langerhans cell histiocytosis in children

PURPOSE The present study presents 22 cases of pediatric patients harboring an eosinophilic granuloma (EG) of the skull. METHODS Twenty-two patients (13 males, 9 females; mean age, 7.5 years; range, 3-14 years) with a suspected diagnosis of a cranial EG were enrolled in the study. They all had been preoperatively evaluated by skull x-ray and computed tomography, whereas 10 patients additionally underwent magnetic resonance imaging. To rule out a multifocal disease, scintigraphy was performed in all cases preoperatively. Surgical excision of the lesions was performed, and EG was proven histopathologically. RESULTS There was a male predominance. Frontal bone was the most common affected bone. One patient had a multifocal disease. Total excision of the lesion was performed in 19 of 22 patients. No patient received postoperative radiotherapy. In the remaining 3 cases because of the periorbital localization of the EG and the subsequent risk of disfigurement, only a biopsy was performed. These patients were treated with sulfamethoxazole and trimethoprim for 6 months. All 3 lesions were resolved. The follow-up examinations ranged from 6 months to 17 years, with a mean follow-up of 6.2 years, and no tumor recurrence was noted. CONCLUSIONS We conclude that EG is a benign disease. At the time of diagnosis, a bone scan should be performed to rule out a multifocal disease. Surgical resection is the treatment of choice. Nevertheless, for lesions in which excision can cause cosmetic defects, administration of sulfamethoxazole and trimethoprim after biopsy appeared to be an effective alternative treatment.

Expression of epidermal growth factor receptor and HER-2 in pediatric embryonal brain tumors.

Background/Aims: Medulloblastomas (MBs), atypical teratoid rhabdoid tumors (AT/RTs) and central nervous system primitive neuroectodermal tumors (PNETs) are aggressive embryonal brain neoplasms in children with overlapping histological features but with different pathogenetic pathways. We set out to evaluate the role of epidermal growth factor receptor (EGFR), HER-2, Ki-67 and p53 in embryonal tumors. Material and Methods: We retrospectively evaluated 36 children with embryonic tumors (27 MBs, 7 AT/RTs and 2 supratentorial PNETs). The immunohistochemical expression of EGFR and HER-2 was correlated to histology, expression of the Ki-67/MIB-1 proliferative index, p53 tumor suppressor oncoprotein and prognosis. Results: High expression of Ki-67 was observed in all MBs being particularly increased (>50%) in 8 cases, while p53 protein was detected in 25/27 MBs showing a high expression in 16 cases. EGFR and HER-2 expression was observed in 10/27 and 17/27 MBs, respectively. High Ki-67/MIB-1 and p53 expression was revealed in all AT/RTs and PNETs, while EGFR and HER-2 were detected in 3/7 and 6/7 AT/RTs, respectively. The 5-year progression-free survival and overall survival were 55.5 and 69.2%, respectively. In MBs, the univariate analysis revealed that the Ki-67 index and male gender were both at a significant level related to the survival of the patient. In multivariate analysis, the Ki-67 index was the only independent predictive variable. Conclusions: The Ki-67 index was identified as a factor with independent prognostic power. EGFR and HER-2 expression is variable in embryonal tumors. HER-2 expression, in a considerable number of MBs and AT/RTs, suggests that HER-2 may be implicated in their pathogenesis representing a potential target for novel therapies.

Surgical Management of Brain Cavernomas in Children

Background: Cavernous hemangiomas are benign vascular hamartomas caused by developmental malformations of the vascular bed. They can be found in 0.3–0.7% of the population, whereas one fourth of these lesions occur in children. Methods: In the present study, we report on 16 cases of cavernomas surgically treated in our institute. From each patient’s file, the age, sex, lesion location, symptoms and follow-up were analyzed. Results: The most commonly presenting symptom was epilepsy. Radiological signs of acute hemorrhage were observed in 3 cases. Three children had multiple cavernomas. The parietal lobe was the most common site of occurrence, whereas only 2 cavernomas were infratentorial. There was no operative mortality. Postoperatively, there was no additional neurological deficit, and all patients gradually improved. In a case of pontine cavernoma, there was a need for reoperation due to rebleeding. Conclusion: With the improvement of microsurgical techniques and modern neuroimaging, nearly all cavernomas can be safely removed. Total resection is associated with patients’ clinical improvement and seizure control.

Embryonal Tumor With Abundant Neuropil and True Rosettes A Systematic Literature Review and Report of 2 New Cases

Embryonal tumor with abundant neuropil and true rosettes has been recently defined as a distinct central nervous system embryonal neoplasm, although it was initially regarded as a subtype of central nervous system primitive neuroectodermal tumor. To date 70 cases have been reported. We have performed a literature review and we present 2 new cases. Analysis of the reported data revealed that radiotherapy, tumor excision and high-dose adjuvant chemotherapy with sequential autologous hematopoietic stem cell rescue have a prognostic significance.

Achondroplasia with synostosis of multiple sutures

We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, particularly for posterior plagiocephaly.