Marek Mandera

Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome

IntroductionParry–Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry–Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may be similar. Rasmussen encephalitis (RE) is connected with chronic inflammation and damage of one hemisphere. Clinically, it is manifested by epileptic partial seizures and unilateral neurological symptoms.Case ReportThe authors present the case of a 10-year-old girl with features suggestive of RE, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration. At the age of 2 years, some changes on the left part of the face typical of Parry–Romberg syndrome or a linear form of scleroderma were noticed.DiscussionThe authors discussed the difficulties in differential diagnosis in that patient. The presented girl constitute the case from the borderline zone of the aforementioned disorders.

Endoscopic third ventriculostomy for hydrocephalus: early and late efficacy in relation to aetiology.

Summary. Objectives: The aim of the study was to analyse the effectiveness and usefulness of treatment of hydrocephalus by Endoscopic Third Ventriculostomy (ETV). We sought to relate rates of failure to the cause of hydrocephalus, distinguishing between early and late outcome. Patients and methods: Between September 1999 and April 2001, 30 patients underwent ETV. In 23 patients hydrocephalus was caused by an expansive mass (tumour). Three groups of patients were distinguished, according to the different aims of ETV. Thus in group T – ETV was carried out to eliminate hydrocephalus prior to the main surgery (53%), in C – ETV was the definite treatment of choice (30%), and in group P – ETV was a palliative treatment (17%). The results were assessed in the early postoperative period and in long term follow-up using clinical relief of symptoms, and radiological criteria (pre- and postoperative computed tomography and/or magnetic resonance scans). Results: In the early postoperative period ETV was rated to be effective by clinical criteria in 29 patients, and by radiological criteria in 27. According to late assessment the method was successful in 25 patients using clinical criteria, and in 21 using radiological criteria. There was no peri-operative mortality. A transient complication (wound CSF leak) occurred in two patients. Conclusions: ETV is effective in well chosen patients in relieving symptoms of hydrocephalus. It is valuable before a definitive major operation to remove the cause of hydrocephalus, as a palliative treatment, and in itself as a method of definitive management when indications are correct.

Childhood pineal parenchymal tumors: clinical and therapeutic aspects

The aim of our study was to investigate the correlation of the clinical characteristic of pineal parenchymal tumors in children and adolescent with histopathological diagnosis and patient survival. Records of 27 patients with histologically diagnosed pineocytomas (n = 16) and pineoblastoma (n = 11) consecutively treated between 1991 and 2001 were reviewed retrospectively to identify factors predictive of aggressiveness. Among analyzed epidemiological, clinical, and radiological factors, we found that independent prognostic indicator in patients with childhood pineal parenchymal tumor was the extent of surgical resection.

Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Subependymal giant cell astrocytoma (SEGA) is a benign brain tumor associated with tuberous sclerosis complex (TSC). Since there were some discrepancies in SEGA classification, in 2012, a consensus statement defined SEGA as a lesion at the caudothalamic groove with either a size of more than 1cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. This pointed that the documented tumor growing is an important diagnostic feature. Currently, there are 2 therapeutic options: surgical and medical with mammalian target of rapamycin (mTOR) inhibitors. Neurosurgery should consider a localization and size of the tumor, presence of hydrocephalus and surgeons experience. Patients who are not qualified for surgery and require therapeutic intervention are subjected to mTOR inhibitors therapy. Everolimus, one of the mTOR inhibitors, has been recently approved in the US and Europe for treatment of patients with TSC and SEGA. Treatment with everolimus results in a rapid initial reduction in tumor volume, followed by a phase of slower reduction or stabilization of residual mass. mTOR inhibitor dose de-escalation strategy seems to be also logical in long-term SEGA treatment to reduce the risk of adverse effects while maintaining the therapeutic effect. However, duration of the treatment and the efficacy of dose reduction are still questionable. Thus, this review covers the various approaches that are currently being made toward improving the outcome of management of SEGA among patients with TSC.

Application of Gait Index Assessment to Monitor the Treatment Progress in Patients with Cerebral Palsy

A three-dimensional analysis of movement is more and more often applied to assess locomotive functions of patients with cerebral palsy (CP). For the past few years there has been a growing interest in gait index methods which enable the evaluation of the patient’s gait with the use of a single numerical value. This research aimed at the assessment of the gait of patients with CP at different stages of treatment on the basis of gait indices Gillette Gait Index (defined by Shutte) and Gait Deviation Index (definied by Schwartz and Rozumalski) as well as finding dependencies between the determined indices values. The studied group consisted of 56 healthy participants and 16 patients with cerebral palsy treated using botulinum toxin. On the grounds of the determined indexes, the improvement of gait was observed in the case of 75 % of patients with CP. Statistically significant differences were found between GGI and GDI values obtained in the initial investigation and after 6 months following the administration of botulinum (PRE and POST). There was a strong linear dependence observed between the GDI and GGI* (\(GGI^*=\ln (\sqrt{GGI})\)) values. No significant dependence was observed between the percentage indices of improvement determined on the basis of the GGI and GDI results obtained (in the PRE and POST examination).

Expression of Bcl-2 and Bax protein in normal pineal gland in children and young adult

SummaryThe Bcl family contains both pro and antiapoptotic proteins participating in the regulation of neuronal cell death in several pathological conditions. However, very little is known about physiological profiles of Bcl-2/Bax expression in normal brain. In this study, we examined expression profile of Bcl-2 and Bax proteins in normal pineal gland in children. The material for analysis was obtained by biopsy of pineal parenchyma during surgery of pineal cysts. All specimens were labeled immunohistochemically and analyzed by means of confocal laser scanning microscope. We found only few Bcl-2 expressing (0.7%) and no Bax-immunopositive (0.0%) pinealocytes. Bcl-2-positive cells were mature neurons, neither young ones nor glia.

Serum levels of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) in children with brain tumours

BACKGROUND Angiogenesis is the process of new vessel formation originating from the existing vascular network. It plays an important role in the growth and spread of malignancies, including brain tumors. The process of angiogenesis is characterized by increased expression of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF), and by the release of their soluble forms into circulation. OBJECTIVES The aim of the study was to evaluate serum levels of VEGF and bFGF in children with malignant and benign brain tumors. MATERIAL AND METHODS The study group (group N) included 106 children diagnosed with brain tumors. The children in group N were classified according to tumor pathology into 3 subgroups: N1 (n = 63): patients with malignant tumors, excluding anaplastic astrocytoma (AA) and glioblastoma multiforme (GBM); N2 (n = 25): patients with benign tumors; and N3 (n = 18): patients with high grade gliomas (AA and GBM). VEGF and bFGF were determined by ELISA in blood samples before the initiation of chemotherapy. VEGF and bFGF levels were compared within the subgroups in relation to tumor grading and the extent of surgery. RESULTS The median VEGF in patients with brain tumors was significantly higher than in the control group. The median levels of VEGF and bFGF in subgroup N1 were significantly higher than in the control group. The differences in VEGF and bFGF concentrations between the subgroups in relation to the extent of tumor resection were not significant. CONCLUSIONS Significantly higher plasma VEGF levels in children with brain neoplasms may reflect enhanced angiogenesis in the tumors.

Is Neuroradiological Imaging Sufficient for Exclusion of Intracranial Hypertension in Children? Intracranial Hypertension Syndrome Without Evident Radiological Symptoms

There are still many important questions about algorithms and clinical scenarios in the context of children with clinical intracranial hypertension symptoms (IHS) without radiological findings. Such conditions could appear in different clinical situations, including slit ventricle syndrome, overdrainage syndrome, normal volume hydrocephalus, or idiopathic intracranial hypertension. Many articles have defined specific treatment strategies for various forms of IHS, including ventriculoperitoneal shunting, medication for shunt-related migraine, steroids, and valve upgrades with antisiphoning devices or programmable systems. This study is an attempt to define the proper diagnostic procedures and treatment options for patients with various forms of IHS without evident neuroradiological findings. The authors discuss possible pathological mechanisms leading to IHS in the pediatric population. The authors present six children treated in their center. All of the children presented clinical manifestation of intracranial hypertension without evident neuroradiological findings in CT and/or MRI examinations. In three cases, the final diagnosis was slit ventricle syndrome; in two cases, normal volume hydrocephalus; in another case, idiopathic intracranial hypertension. The treatment options included short-term steroid (dexamethasone) administration and ventriculoperitoneal shunting using programmable systems. In one case of idiopathic intracranial hypertension, ICP monitoring was also performed. The authors discuss possible diagnostic and treatment strategies for the aforementioned cases. There are still many controversies about management of children with clinical symptoms of intracranial hypertension that are not confirmed in neuroimaging. It seems that our understanding of intracranial hypertension in the pediatric population is not nearly as sophisticated or complete as we might have imagined. Ventriculoperitoneal shunting with antisiphoning devices and/or short-term dexamethasone administration seem to be the best treatment options in these cases.

How does nonsyndromic craniosynostosis affect on bone width of nasal cavity in children? – Computed tomography study

Craniosynostosis is caused by premature fusion of one or more cranial sutures, restricting skull, brain and face growth. Nonsyndromic craniosynostosis could disturb the proportions of face. Although morphometric diameters of nasal cavity in healthy children are already known, they have not been established yet in children with nonsyndromic craniosynostosis. The aim our study was to check whether diameters of bone structures of nasal cavity in children with nonsyndromic craniosynostosis measured in CT are within normal range. 249 children aged 0–36 months (96 with clinical diagnosis of nonsyndromic craniosynostosis and 153 in control group) were included into the study. The following diameters were measured on head CT scans: anterior bony width (ABW), bony choanal aperture width (BCAW), right and left posterior bony width (between bone sidewall and nasal cavity septum—RPBW and LPBW). The study group has been divided into 4 categories, depending on child’s age. The dimensions measured between bone structures of nasal cavity were statistically significantly lower in comparison to the control group. They did not depend on the sex for ABW, nor on age in groups 7–12 months and < 2 years for BCAW, RPBW and LPBW. The measured dimensions increased with age. In children with nonsyndromic craniosynostosis the diameter of pyriform aperture and bony choanal aperture were lower than in controls, what may be described as fronto-orbital anomalies. Morphometric measurements of anthropometric indicators on CT scans could be used as standards in the clinical identification of craniosynostosis type and may help in planning surgical procedures, particularly in the facial skeleton in children.

The components of shoulder and elbow movements as goals of primary reconstructive operation in obstetric brachial plexus lesions

Most of the cases of obstetric brachial plexus lesions (OBPL) show satisfactory improvement with conservative management, but in about 25% some surgical treatment is indicated. The present paper analyzes the effects of primary reconstructive surgeries in aspect of achieving delineated intraoperatively goals. Children operated before the age of 18 months with follow-up period longer than 1 year were selected. Therapeutic goals established during the operation were identified by analysis of initial clinical status and operative protocols. The elementary movement components in shoulder and elbow joints were classified by assessing range of motion, score in Active Movement Scale and modified British Medical Research Council scale of muscle strength. The effect was considered satisfactory when some antigravity movement was possible, and good when strength exceeded M3 or antigravity movement exceeded half of range of passive movement. In 13 of 19 patients most of established goals were achieved at good level, in 2 at satisfactory level. Remaining 4 patients showed improvement only in some aspects of extremity function. In 2 patients improvement in some movements was accompanied by worsening of other movements. The analysis of results separated into individual components of movements showed that goals were achieved in most of the cases, simultaneously clearly indicating which damaged structures failed to provide satisfactory function despite being addressed intraoperatively. The good results were obtained mainly by regeneration through grafts implanted after resection of neuroma in continuity, which proves that this technique is safe in spite of unavoidable temporary regression of function postoperatively.