Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.

BACKGROUND: Smith-Lemli-Opitz Syndrome (SLOS) is a rare hereditary autosomal recessive disorder with broken cholesterol synthesis causing by 7-dehydrocholesterol reductase deficiency. Although the clinical features and pathogenesis is well-defined, it is unknown whether there is a relationship between SLOS and neoplastic processes, especially brain neoplasms. PURPOSE: We aimed to attract the attentions to any possibility of relation between SLOS and intracranial tumor development via a pediatric case with both intracranial high-grade neuroglial tumor and SLOS, and thus to contribute an additional data to the literature on togetherness of these two clinical conditions. METHOD: In our clinic, we experienced an interesting case of a 10-year-old child with both SLOS and huge brain tumor as rarely seen. Here, we reviewed the features and pathophysiology of SLOS and brain tumors via this case. RESULTS: The patient was operated in our clinic, after, his brain tumor had been diagnosed, and his histopathology was resulted in undifferentiated malignant neuroglial WHO grade 4 tumor. CONCLUSION: According to current literature, our case is the first report on coexisting of SLOS and intracranial undifferentiated malignant neuroglial tumor. Common pathways like impaired sonic hedgehog (Shh) signaling pathway may be considered for pathogenesis of a probable link between SLOS and brain tumors in further studies.

Bilateral Optic Pathway Ganglioglioma: The Fifth Case in the Literature.

Gangliogliomas are mixed tumors which contain both glial and neuronal elements. The optic pathway is a very rare location for gangliogliomas, with less than 23 cases reported in the literature. Bilateral involvement of the entire optic pathway was reported in only 4 cases before. Because of similar radiological appearance of other pathological entities such as gliomas and craniopharyngiomas, histopathological diagnosis is essential. We report a ganglioglioma case that involved both optic pathways. A 12-year-old patient suffering from visual deterioration for 6 months was evaluated. After a visual field test and radiological examinations, a microsurgical biopsy procedure was performed. Pathological examination revealed dysplastic/neoplastic ganglion cells and neoplastic glial cells, and the diagnosis was a World Health Organization (WHO) grade 1 ganglioglioma. The patient is scheduled for adjuvant radiotherapy with the hope of prevention of progression.

Pathological evaluation of the filum terminale tissue after surgical excision.

PURPOSE: Tethered cord syndrome (TCS) is an important disease and can produce progressive neurological symptoms. Studies about the filum terminale (FT) have drawn attention to the importance of histopathological investigation of this structure. The most interesting of these subtypes is the FT that incorporates peripheral nerve fibers (PNF). Our study aimed to analyze the frequency of PNF in the FT of 40 cases diagnosed with TCS. METHODS: We performed a retrospective histopathological investigation of FT excised during surgery of patients with TCS who underwent de-tethering. Neurologic and other types of postoperative complications were also revised. RESULTS: Analysis of the samples showed six dominant histopathological subtypes in the FT: fibroadipose tissues including peripheral nerve bundles (n = 14, 37 %), fibroadipose tissue (n = 10, 25 %), fibrous or adipose tissue (n = 7, 17 %), glial tissues including peripheral nerve sections (n = 4, 10 %), and ependymal and glial tissues (n = 4, 10 %). None of the patients presented with neurologic postoperative complications. CONCLUSION: Embryologic studies revealed that it is common to encounter different histological subtypes of FT pathology. However, the presence of peripheral nerve cells in the FT is important for neurosurgical practice due to the risk of sectioning a functional structure during surgery. In our analysis, we demonstrated the high frequency of PNF in FT pathology. However, since none of the patients showed any symptoms of neurologic deterioration, we considered that these fibers were probably not functional. Our findings emphasize the importance of neuromonitoring in TCS surgery. Although we consider that most of the fibers are probably not functional, neuromonitoring after surgery may prevent serious complications.

Split cord malformation: experience from a tertiary referral center.

AIM: To present clinical, radiological, and follow-up features of 34 cases with spinal split cord malformation (SCM) treated in a tertiary referral center between April 2000 and March 2012. METHODS: A total of 59 patients were treated due to SCM between April 2000 and March 2012 at the Gazi University Faculty of Medicine, Division of Pediatric Neurosurgery. Data for each patient were evaluated retrospectively, and age, sex, clinical findings, radiological findings, complications, and surgical results were recorded. Patients with a follow-up period of less than 6 months, patients harboring an open spinal dysraphism, and patients who had had their index surgery in another clinic were excluded, thus leaving a total of 34 patients for further analysis. RESULTS: There were 19 females and 15 males ranging in age from 2 months to 15 years (mean 5.04 years). In this cohort, skin stigma was the most common reason (76.5%) to seek medical care. Of the cases, 22 (64.7%) had lumbar SCM and 12 (35.3%) had thoracic SCM. There were no cervical SCM. Twenty-one (61.8%) of the cases had type 1 SCM and 13 (38.2%) had Type 2 SCM. Of the patients, 21 (61.8%) had a detectable neurological deficit at initial evaluation. There were no differences between patients with and without a neurological deficit regarding age, sex, type, and level of SCM. Overall evaluation of patients regarding their final neurological status revealed that 16 (47.1%) patients improved, 4 (11.8%) deteriorated, and 14 (41.2%) remained stable. CONCLUSIONS: In our opinion, all patients diagnosed with either type of SCM should be surgically treated to prevent further neurological deterioration. The results of this study, together with previously published data, confirm the effectiveness and safety of surgical intervention in SCM.

Anti-apoptotic and neuroprotective effects of α-lipoic acid on spinal cord ischemia-reperfusion injury in rabbits.

PURPOSE: Radical oxygen species produced after injury counteracts antioxidant activity and frequently causes severe oxidative stress for the tissues. Alpha-lipoic acid is a powerful metabolic antioxidant with immunomodulatory effects which provides neuroprotection. The aim of this study is to investigate the neuroprotective and anti-apoptotic effects of alpha-lipoic acid on spinal cord ischemia-reperfusion. METHODS: Twenty-four adult, male, New Zealand rabbits were divided into sham (n = 8), control (n = 8), and treatment groups (n = 8). The abdominal aorta was clamped for 30 min by an aneurysm clip, approximately 1 cm below the renal artery and 1 cm above the iliac bifurcation in control and treatment groups. Only laparotomy was performed in the sham group. Twenty-five cubic centimeters of saline in control group and 100 mg/kg lipoic acid were administered intraperitoneally in the treatment group after closure of the incision. The animals were killed 48 h later. Spinal cord segments between L2 and S1 were harvested for analysis. Levels of nitric oxide, glutathione, malondialdehyde, advanced oxidation protein products, and superoxide dismutase were analyzed as markers of oxidative stress and inflammation. Caspase-3 activity was analyzed to detect the effect of lipoic acid on apoptosis. RESULTS: In all measured parameters of oxidative stress, administration of lipoic acid significantly demonstrated favorable effects. Both plasma and tissue levels of nitric oxide, glutathione, malondialdehyde, and advanced oxidation protein products significantly changed in favor of antioxidant activity. There was no significant difference between the plasma superoxide dismutase levels of the groups. Histopathological evaluation of the tissues also demonstrated significant decrease in cellular degeneration and infiltration parameters after lipoic acid administration. However, lipoic acid has no effect on caspase-3 activity. CONCLUSIONS: Although further studies considering different dose regimens and time intervals are required, the results of the present study prove that alpha-lipoic acid has favorable effects on experimental spinal cord ischemia-reperfusion injury.

Aplasia cutis congenita associated with multiple congenital anomalies: case report.

INTRODUCTION: Aplasia cutis congenita (ACC), is a rare anomaly presenting with a solitary scalp lesion of skin abrasion. Lesions can be multiple and on different surfaces of the body but are mostly seen on the scalp (%70) as a solitary lesion. As it is a rare disease, we aimed to describe our case with ACC. CASE REPORT: Our case was a newborn infant with a large full thickness skin and skull defect on the scalp at birth. He also had hypoplasia on the fingers, omphalocele, ectopic anus, cleft lip and palate anomalies and multiple cardiac anomalies. We planned further evaluation but he died 23 hours after birth because of cardiac problems. DISCUSSION: Multiple factors have been described as etiological factors for ACC but the etiology is not clear yet. ACC may also be associated with some syndromes. Management strategies are based on the size, presence of an underlying skull defect and the child's physical condition.

Intraoperative neurophysiological monitoring during surgery for tethered cord syndrome.

AIM: The tethered cord syndrome refers to a variety of lesions that can cause the conus medullaris to be low-lying or incapable of movement within the spinal canal. Permanent or temporary neurological complications were reported following surgical release. In this report, peri- and postoperative results in cases with tethered cord syndrome that were followed by multimodal intraoperative neurophysiological monitoring (MIONM) methods are presented. MATERIAL AND METHODS: An IONM system (Nicolet CR Endeavor) was used for monitoring during tethered cord surgery. Somatosensory evoked potentials (SEPs), motor evoked potentials (MEPs), direct nerve root/rootlet stimulation, free-run electromyography (EMG) and F-waves were used during tethered cord surgery of 10 cases to prevent possible nerve injuries. RESULTS: MEP and SEP recordings did not change in any of the cases during surgery. The nervous tissue was identified and differentiated from connective tissue in three cases when motor responses were elicited with direct stimulation of nerve roots. None of the cases had neurological deficits following the operation. CONCLUSION: Direct nerve root/rootlet stimulation should be one of the components of MIONM during surgery for tethered cord syndrome to prevent postoperative neurological deficits.

Malignant intracerebral giant nerve sheath tumor in a 14-month-old girl with neurofibromatosis type 1: a case report.

INTRODUCTION: Malignant intracerebral nerve sheath tumor (MINST) is extremely rare and the origin is still unclear. The authors present the clinical, radiological, and pathological features of a malignant intracerebral giant nerve sheath tumor. CASE REPORT: A giant tumor in the right frontotemporoparietal lobes causing a midline shift was detected in a 14-month-old girl who presented with developmental delay, vomiting, and lethargy. The physical examination was consistent with neurofibromatosis type 1 (NF-1). Subtotal resection was performed and the histopathological examination revealed the diagnosis of MINST. DISCUSSION: There are only six cases of malignant intracerebral nerve sheath tumor in the literature. The presented case is the youngest and the occurrence of MINST in a 14-month-old girl may support the hypothesis of multipotent mesenchymal stem cell origin; however, the tumors which arise from multipotent mesenchymal stem cells may be seen in later stages of life. Another important feature of the presented case is the occurrence of MINST in NF-1. CONCLUSION: MINSTs are extremely rare tumors with unknown origin. The location, the degree, and the size of the tumor and the general condition of the patient are prognostic factors in MINSTs, like in other malignant tumors.

Effectiveness of skull models and surgical simulation: comparison of outcome between different surgical techniques in patients with isolated brachycephaly.

PURPOSE: The aim of this study was to emphasize the importance of preoperative surgical planning using 3D skull models in craniosynostosis surgery. METHODS: By using 3D polymethyl methacrylate skull models manufactured using 3D tomography images, the authors previously showed that after fronto-parietal osteotomy, instead of fixing the fronto-parietal bone flap without rotation, angled advancement with horizontal osteotomy provides maximum increase in intracranial volume, in a bilateral coronal craniosynostosis model. After changing the operation technique using data gathered from previous studies, we reviewed two bilateral craniosynostosis patients operated with the new technique and compared it with two patients that were operated with the old technique. RESULTS: Comparing cranial indexes (CI), significant improvement was detected in both groups. The decrease in CI in the second group was slightly better than the first group. In the comparison of intracranial volume (ICV), there was an increase in ICV values in both groups. The percentage of increase between two groups was similar. The morphological outcome was satisfactory in all patients. There were no major or minor complications and morbidity. CONCLUSIONS: Current multislice tomography technology and stereolithographic procedures provide an excellent surgical simulation model to find new techniques and predict the outcome. These models should be used in all complex and syndromic craniosynostosis for both better results and reducing the operative time and associated blood loss.

A comparison of the local effectiveness of mitomycin C, aprotinin, and Adcon-L in experimental peridural fibrosis.

BACKGROUND: Peridural fibrosis and leptomeningeal adhesion formation are among the common causes of FBSS. Various materials have been used to prevent the compressive effect of postoperative PF on neural structures. We investigated and compared the effects of 3 agents--aprotinin, mitomycin C, and Adcon-L--to PF after lumbar laminectomy in rabbits. METHODS: Four groups each including 8 rabbits were formed: Adcon-L, aprotinin, mitomycin C, and control groups. L3 laminectomy was performed on each animal. One of the 3 agents was administered locally to laminectomy areas in each group. All the animals were killed 4 weeks after the surgery. Peridural fibrosis, arachnoidal fibrosis, and dural adhesions were evaluated histologically and graded. The results were compared statistically by using a standard chi2 test. RESULTS: There were significant differences in the PF grades among the experimental groups and the control group (P < .05). When the fibroblast density and the inflammatory cell density were evaluated, the grades of the experimental groups were better compared with the grades of the control group, but the difference was not statistically significant (P > .05). CONCLUSION: Various materials have been used to prevent the compressive effect of postoperative PF on the neural structures. Aprotinin, mitomycin C, and Adcon-L are effective in preventing PF and dural adhesions in postlaminectomy areas. However, mitomycin C and Adcon-L were more effective than aprotinin in preventing peridural scarring.

Should we operate all extradural spinal arachnoid cysts? Report of a case.

Spinal canal extradural arachnoid cyst is an uncommon, expanding lesion which may communicate with the subarachnoid space. They may be either intra or extradural with intradural cysts being less common. Spinal arachnoid cysts are usually in the thoracic spine, and they may cause symptoms due to spinal cord compression. Although surgery is the preferred way of management, there are reported cases with long term follow-up in the literature. Here we present a 14-year-old female who presented with intermittent low back pain for 1 year and a spinal arachnoid cyst that was followed for two years without any neurological deterioration.

The effects of topical granulocyte-macrophage colony-stimulating factor on dural healing in rats after induced cerebrospinal fluid leakage.

OBJECT: Dural defects must be repaired to protect the central nervous system from contamination. Although there are various experimental and commercial substances available for this purpose, the ultimate method of watertight dural closure has yet to be discovered. In this study, the authors investigate the effects of topically applied recombinant mouse granulocyte-macrophage colony-stimulating factor (GM-CSF) on dural healing in a rat model of dural injury and cerebrospinal fluid leakage. METHODS: In this experimental model, a dural defect at the level of the L1-2 vertebrae was created in 32 Wistar rats. Sixteen animals were treated with locally applied recombinant mouse GM-CSF postoperatively, and 16 animals received normal saline. The effects of GM-CSF on dural healing, cerebrospinal fluid leakage, and wound healing were assessed 2 and 4 weeks postoperatively. Dural healing was evaluated histologically. RESULTS: Dural healing was increased in rats treated with GM-CSF compared with rats in the control group. This difference was statistically significant (p < 0.05). CONCLUSIONS: Cerebrospinal fluid leakage may impede healing of dural defects. Topically applied GM-CSF seems to aid in dural healing.

The Effect of Hydrogen Sulphide on Experimental Cerebral Vasospasm.

AIM: Cerebral vasospasm is the primary cause of morbidity and mortality after subarachnoid hemorrhage (SAH). Hydrogen Sulfide (H < sub > 2 < /sub > S), a gaseous neurotransmitter, is produced in many tissues including the central nervous system (CNS). The vasodilatatory effect of H2S has been shown in the CNS; however, its role in cerebral vasospasm has not been investigated before. MATERIAL AND METHODS: The rats were divided into 8 groups: control, SAH, sodium hydrosulphide (NaHS), propargylglycine (PPG), aminooxy acetic acid (AOAA), SAH+NaHS, SAH+PPG, and SAH+AOAA. After establishing experimental SAH, the basilar artery and brain stem were harvested at 24th hours. The diameter and wall thickness of basilar artery were measured. Production of H2S was assessed by showing the activity of cystathionine ?-synthase (CBS) and cystathionine ?-lyase enzymes (CSE). RESULTS: NaHS treatment significantly reduced vasospasm at 24 hours following SAH. This vasodilatatory effect was correlated with the CSE expression in basilar artery. CSE and CBS enzyme expressions were significantly lower in brain stem and basilar artery in PPG and AOAA-treated groups. PPG and AOAA treatments exerted a vasoconstrictive effect in the basilar artery. There were statistically significant differences between NaHS, PPG and AOAA groups, in terms of basilar artery luminal diameter. CONCLUSION: H < sub > 2 < /sub > S may have a therapeutic potential in the treatment of vasospasm with its vasodilatator activity.

Dorsolumbar junction spinal tuberculosis in an infant: case report.

The treatment of spinal tuberculosis is a challenging and controversial problem. The authors present the rare case of an 8-month-old infant with dorsolumbar junction tuberculosis. The child did not sit or stand and a hump was noted on his back. Radiological evaluations demonstrated destruction by a tuberculous abscess of the T-12 and L-1 vertebral bodies, extending into the psoas muscles and spinal canal. In addition to medical therapy, radical debridement and grafting were performed via an anterolateral approach. The follow-up period was 2 years. The difficulties in the management of spinal tuberculosis in infants are discussed.

Anterior thoracic myelomeningocele presenting as a retromediastinal mass. Case report.

Myelomeningocele presenting as a retromediastinal mass originating from the midline defect through the fused T-4, T-5, and T-6 VBs is described. An 11-year-old boy with a completely normal systemic and neurological examination suffering pulmonary problems such as effort dyspnea and severe kyphosis was evaluated and an anterior thoracic myelomeningocele was diagnosed. The boy underwent surgery for excision of the meningomyelocele sac and correction of kyphoscoliosis. His year-long follow-up period as an outpatient was uneventful. A comprehensive PubMed search of the literature returned no results for an "anterior thoracic myelomeningocele" query. To the best of the authors' knowledge, this is the only case described in the literature.

Retropharyngeal hematoma secondary to whiplash injury in childhood: a case report.

Whiplash Associated Disorders (WAD) has been reported as an adult phenomenon. Whiplash injury has classically been described as a cervical soft tissue hyperextension- flexion injury after a trauma such as a rear end impact car crash, contact sport injuries, blows to the head from a falling object or a punch and shaken baby syndrome and is mostly seen in adults . It is important as it may cause severe disability due to spinal cord injury, decrease work productivity and even retropharyngeal hematoma resulting airway obstruction and mortality due to bleeding amongst deep cervical fascias. We describe a case of retropharyngeal hematoma after whiplash injury in a childhood.

An unusual ventriculoperitoneal shunt complication: spontaneous knot formation.

This article aims to describe an extraordinary complication of a ventriculoperitoneal shunt system that formed a knot spontaneously and lead to a shunt malfunction. A 3-year-old male patient was operated due to posttraumatic hydrocephalus. After an uneventful follow-up period of 34 months, he presented with shunt malfunction. During the shunt revision surgery, the peritoneal catheter was found to form a loop over itself. There are various complications of ventriculoperitoneal shunt systems. Migration to body cavities is among the most interesting ones. This is the fifth report describing this rare complication. Hydrocephalic patients should be closely followed up after shunt surgery for various extraordinary complications.

Myogenic and melanotic differentiated medulloblastoma: case report.

Medulloblastoma is the most common malignant tumor of childhood and usually arises from the cerebellar vermis. Several histological types of medulloblastoma have been described. Myogenic and melanotic differentiated medulloblastoma are seldom seen. We present a case diagnosed as myogenic medulloblastoma with focal areas of melanotic differentiation. A 4-year-old boy was admitted due to headache, nausea and vomiting for a month. MRI revealed a heterogeneous enhanced posterior fossa tumor rising from the fourth ventricle. He was operated and pathological examination of the specimen revealed myogenic medulloblastoma with myogenic and melanotic differentiation. According to our knowledge there are six cases reported in the literature so far. Oncogenic factors in medulloblastoma development are controversial. Presence of multiple differentiation patterns supports a pluripotent origin for these tumors.