Isolated infantile myofibroma of the calvarium: Report of a case with a literature review.

OBJECTIVE: Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera. Solitary skeletal lesions are relatively uncommon. Calvarial involvement should be distinguished from more aggressive tumors for appropriate treatment. METHODS: We reviewed solitary infantile myofibroma of the calvarium and discussed the relevant computed tomography and magnetic resonance imaging findings along with differential diagnosis. A case study of the frontal bone in a 5-month-old girl was also presented. RESULTS: Fourteen cases were reviewed, including the current case. Of the 13 cases with known sex, eight were male and five female. The mean age was 3.03 with an age range of 0.41-9 years. Nine of the 14 tumors were in the frontal bone. The lesions were intradiploic with tabula interna and/or externa of the calvaria involvement. The mean largest diameter was 22.3 mm. Upon computed tomography, all the lesions were expansile and lytic, and hypoattenuated, isoattenuated or occasionally hyperatenuated. Calcification was not seen. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted and T2-weighted images. Neoplasms showed hypointense signal on diffusion-weighted imaging and hyperintense on apparent diffusion coefficient, without restricted diffusion in three cases. All lesions were intensely enhanced after gadolinium administration. Treatment was total surgical resection and recurrence was not observed during follow-up. CONCLUSIONS: Infantile myofibromas are rare, typically intradiploic expansile lytic lesions with tabula interna and/or externa involvement. Distinctive imaging features include the presence of hipointense signals on T2-weighted magnetic resonance images without restricted diffusion on diffusion-weighted imaging. A slow-growing, firm, painless, and nontender mass with supportive imaging findings should raise suspicion of the disease.

Encephalomyelitis associated with Covid-19 infection: case report.

We describe a COVID-19 patient who presented with persistent headache and anosmia that was related to viral encephalomyelitis with acute lesions on MRI in both the brain and upper cervical cord.

Allogeneic hematopoietic stem cell transplantation in patients with childhood cerebral adrenoleukodystrophy: A single-center experience "Better prognosis in earlier stage".

BACKGROUND: ALD is a rare X-linked peroxisomal metabolic disorder with many distinct phenotypes of disease that emerge on a wide scale from adrenal insufficiency to fatal cALD which progresses to a vegetative state within a few years. Currently, HSCT is the only treatment method known to stabilize disease progression in patients with cALD. In this study, we aim to report our HSCT experience in patients with cALD and the factors that determine the success of HSCT, as a single-center experience. METHODS: The study cohort involves 23 boys with cALD and three patients with ALD trait and new-onset abnormal behavior who underwent allogeneic HSCT between January 2012 and September 2019 in our transplantation center. Loes scoring, NFS, scale and MFD were performed for evaluating the severity of the cerebral disease. The study cohort was divided into two groups according to baseline NFS and Loes score: early-stage (NFS ≤ 1 and Loes score <9) and advanced stage (NFS > 1 or Loes score ≥9). RESULTS: The pretransplant stage of disease impacted both OS and MFD-free survival. The estimated OS and MFD-free survival at 3 years in patients with advanced disease were 46.1% (95% CI 19.0-73.2) and 23.1% (95% CI 0.2-46.0), respectively, and all patients with the early disease were alive (p: .004) and MFD-free (p < .001) at 3 years. CONCLUSION: This study demonstrated that early HSCT is vital in patients with cALD. The early-stage disease had a significant survival advantage and free from disease progression after HSCT.

Intracranial extra-axial mesenchymal chondrosarcoma in a 16-month-old patient with a literature review of pediatric patients.

Mesenchymal chondrosarcoma is a rare high-grade malignant subtype of chondrosarcoma that is characterized by undifferentiated, round, or spindled mesenchymal cells, interspersed with islands of hyaline cartilage. We report a primary intracranial extra-axial mesenchymal chondrosarcoma in a 16-month-old patient with a review of the literature focusing on intracranial extra-axial MCs with or without skull involvement in pediatric patients, including differential diagnosis. The patient was admitted with a swelling in the right temporooccipital region. There was intracranial extra-dural extension of the mass, which abuts the neural parenchyma without any invasion. A complete tumor resection was performed. Pathological diagnosis was mesenchymal chondrosarcoma. The patient was free of symptoms after surgery.

A primary third ventricle mixed germ cell tumor with leptomeningeal dissemination of immature teratoma component.

A 17-year-old male patient presented to the clinic with a headache, nausea, and vomiting. Magnetic resonance imaging demonstrated a fat-containing and -enhancing heterogeneous tumor in the third ventricle, and fat droplets within the ventricles and the subarachnoid space. Obstructive hydrocephalus was also present. Emergency subtotal removal of the mass was performed via interhemispheric transcallosal approach. The histopathological diagnosis was a mixed germ cell tumor that was composed of embryonal carcinoma, yolk-sac tumor, germinoma, and immature teratoma containing a large amount of mature elements. The patient was referred for postoperative chemoradiotherapy. A mixed germ cell tumor is a rare type of nongerminomatous germ cell tumor that is made up of at least two different types of germ cell tumors. These may include germinoma, choriocarcinoma, embryonal carcinoma, yolk sac tumor, mature teratoma, immature teratoma, or teratoma with malignant degeneration. As far as we know, this is the first reported case of a primary third ventricle mixed germ cell tumor with leptomeningeal dissemination of the immature teratoma component that contains grossly visible mature elements at admission.

Posterior fossa astroblastoma in a child: a case report and a review of the literature.

A 4-year-old girl presented to the hospital with a progressive headache, difficulty walking, and persistent daily vomiting for 3 weeks. Papilledema was observed on fundoscopic examination. A large left cerebellovermian tumor with "bubbly" appearance was discovered. Total removal of the tumor mass was performed, and a diagnosis of low-grade astroblastoma was made. Adjuvant radiotherapy was performed due to the risk of recurrence. The patient is disease-free and has been kept on close follow-up for 6 months. The occurrence of posterior fossa astroblastoma has been rarely reported in the literature. Thus, when a "bubby" appearance enhancing cystic solid tumor is located on the cerebellar hemisphere in a child, an astroblastoma should also be included in the differential diagnosis.

The Surgical Treatment of a Large Cortical Atherosclerotic Middle Cerebral Artery Aneurysm Presenting With Parietal Lobe Infarction.

Distal MCA aneurysms are rarely seen in daily neurosurgical practice and they are, more commonly associated with infectious processes. Here, the authors present a 65-year-old, patient who had an atherosclerotic M4 segment located aneurysm. It was confirmed, that the aneurysm was not related with any infectious process. The patient had, presented clinically by a parietal infarction and she had been successfully operated. The neuronavigation system for this particular case aided us for a precise localization of the aneurysm and gave a chance for a smaller craniotomy.

Atretic cephaloceles: a comprehensive analysis of historical cohort.

PURPOSE: This study aims to analyze the historical cohort of patients with atretic cephaloceles (ACs) comprehensively, since the literature regarding ACs is limited by small case series or case reports and to report a new venous anomaly concomitant with a parietal AC in our exemplary case. METHODS: After a PubMed/Medline search with "atretic cephalocele" in April 2016, we retrieved 42 articles, 41 of which were relevant with the topic. Full texts of accessible articles and abstracts of inaccessible articles were read comprehensively. References of retrieved articles were manually searched. Additional 29 articles reporting the cases of atretic, rudimentary, occult, or sequestered cephaloceles were accessed, since these terms have been used interchangeably in the literature. RESULTS: Median age and mean age of the patients were 1 and 6.69 years, respectively. Female/male ratio was 1.03:1. Atretic cephaloceles were located in different regions, in decreasing order of frequency: parietal (55 %; n = 105), occipital (37 %; n = 71), parieto-occipital (n = 8), frontal (n = 4), asterion (n = 1), and sincipital (n = 1). Concomitant central nervous system (CNS) anomalies were present in 73.3 % of patients with parietal atretic cephaloceles and in 32.4 % of patients with occipital atretic cephaloceles (p < 0.0001). We realized that all patients with worse outcomes had concomitant CNS anomalies (100 %), whereas only 48 % of those with good clinical outcomes had concomitant anomalies (p = 0.0248). CONCLUSIONS: Atretic cephaloceles present as nodular extrusions on the parietal and occipital regions. Concomitant CNS anomalies, which impair the clinical outcomes, are more common in patients with parietal ACs. Observation-only approach is enough in patients with asymptomatic ACs. However, life-long follow-ups are required, because of recurrence after the surgery.

Vertebral artery loops in surgical perspective.

PURPOSE: Vertebral artery loop is a congenital or acquired anomaly. Vertebral artery loops are incidentally diagnosed during evaluation of neck problems and trauma. We aimed to present the incidence of VA loops using magnetic resonance angiography in consecutive patients and discuss epidemiological data including the gender, age, location, signs and symptoms, treatment approaches and outcomes of VA loops via analyzing literature. METHODS: In the first leg of our two-legged study, consecutive patients were evaluated using magnetic resonance angiography to detect any medial loop of vertebral arteries. The study period was from October 2015 to March 2016. In the second leg, academic databases about medial loop of vertebral artery were screened. Case reports, case series, abstracts and references of relevant literature were searched manually to avoid any missing cases. RESULTS: We evaluated 239 consecutive patients using magnetic resonance angiography. Twenty-one patients were excluded from the study due to inadequate image acquisition, aplastic vertebral artery and/or concomitant vertebral artery stenosis. Medial loop of V2 vertebral artery was observed in 13 patients (5.9 %): 9 with left, 2 with right and 2 with bilateral medial V2 loop. Patients with medial V2 loop were significantly older than patients with straight vertebral arteries (70.30 vs. 62.36, p = 0.028). In the literature analysis, VA loops were more commonly observed at V2 segment (90.5 %). Vertebral artery loops were mostly diagnosed at the 5th and 6th decades of life predominantly in females. The most common signs and symptoms were radiculopathy and/or neck pain, and signs and symptoms of vertebrobasilar insufficiency. CONCLUSIONS: Concise pre-operative evaluation of the vertebral arteries is essential to avoid the injury of undiagnosed VA loops during surgery, which might result in catastrophic circumstances. Further evaluation of the vertebral arteries using MR angiography is required, especially in elder age, before cervical spine surgeries.

Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome.

Aneurysmal bone cysts (ABCs) are defined as benign cystic lesions of bone composed of blood-filled spaces. ABCs may be a secondary pathology superimposed on fibrous dysplasia (FD). Concomitant FD and ABC in relation with McCune-Albright syndrome is an extremely rare condition. Here, we report concomitant, double ABCs in bilateral occipital regions and FD from the skull base to the C2 vertebra with Chiari type 1 malformation. A 14-year-old female with a diagnosis of McCune-Albright syndrome presented with swellings at the back of her head. The lesions were consistent with ABCs and were totally resected with reconstruction of the calvarial defects. The coexistence of FD, bilateral occipital ABCs, and Chiari malformation type 1 in a McCune-Albright patient is an extremely rare condition and, to our knowledge, has not been reported to date. Exact diagnosis and appropriate surgical treatment usually lead to a good outcome.

Cerebral venous thrombosis following spinal surgery in a patient with Factor V Leiden mutation.

Cerebral venous thrombosis is a devastating event leading to high mortality and morbidity rates. We present a case of cerebral venous thrombosis that occurred following spinal surgery in a patient with Factor V Leiden mutation and G1691A heterozygosity. Possible prevention and treatment strategies have been discussed.

Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst.

A combination of trauma and a missed inflammatory response (nasal operation) concomitant with hydrocephalus and tumor in secondary encephalocele has not been described in the English literature yet. A 38-year-old man was admitted to the clinic with rhinorrhea that started 3 months ago. In his medical history, nothing abnormal was present except a nasal operation performed 1 year ago. Brain magnetic resonance imaging depicted left frontal encephalocele concomitant with obstructive hydrocephalus caused by an epidermoid cyst originated from the pineal region. A 2-staged surgery was planned. In the first stage, a ventriculoperitoneal shunt insertion was conveyed successfully. In the second-stage surgery, the herniated brain tissue was excised, and the frontal sinus was cleansed with serum saline combined with antibiotic. The bony defect and the dura defect were repaired. The patient's presenting complaint recovered fully, and he was discharged to home in a well condition. Acquired encephalocele is a rare entity. In case of rhinorrhea and encephalocele, even in the presence of prior history of nasal surgery, intracranial evaluation should be conveyed to exclude the presence of hydrocephalus and/or tumor. The cranial defect should be repaired to prevent future infections and brain tissue damage.

Recurrent Cranial Chronic Subdural Hematoma due to Cervical Cerebrospinal Fluid Fistula: Repair of Both Entities in the Same Session.

Cranial chronic subdural hematoma (CSH) occurs secondary to trauma or just spontaneously. In this clinical report, the authors presented a 39-year-old male patient who was admitted with cranial CSH. In further assessment of the patient, the authors found an underlying cerebrospinal fluid (CSF) leak at the level of cervical spine. Following evacuation of the CSH, it recurred. In the second session, the hematoma was re-evacuated and the CSF fistula repaired. The CSH did not recur again. In young adult patients with recurrent CSH and prior presence of bilateral CSH, a survey for an underlying spinal CSF leak should be considered in the differential, especially in the background of trauma. Conservative treatment, epidural blood patching, or microsurgical repair of the dural defect should be conceptualized according to the circumstances of the individual patients with spontaneous intracranial hypotension and spinal CSF fistula.

Delayed Onset Intracranial Subdural Hematoma Following Spinal Surgery.

In this case-based review, the authors analyzed relevant literature with an illustrative patient of theirs about subdural hematoma secondary to dural tear at spinal surgery. Intracranial hypotension is a condition of decreased cerebrospinal fluid volume and pressure. Even though intracranial hypotension is temporary and can be managed conservatively, it may progress and result in subdural fluid collections, hematoma formations, "brain sagging or slumping" states, syringohydromyelia, encephalopathy, coma, and even death. The authors present an 81-year-old man admitted with subdural hematoma 50 days following previous spinal surgery for lumbar spinal stenosis. In his previous spinal surgery he had had dural tear, which had been closed primarily. To the literature, only 21 patients have been reported to develop subdural hematoma following spinal surgery. In patients with subdural hematoma following spinal surgery, the female:male ratio was 3:4 and the median age was 55 years. Surgical diagnoses for previous spinal surgeries were intervertebral disc herniation (5), spinal canal stenosis and spondylolisthesis (6), failed back syndrome (2), tethered cord syndrome and myelodysplastic spine (2), spinal cord tumor, spinal epidural hematoma, vertebral dislocation, vertebral fracture, vertebral tumor, and inflammatory spine. Patients presented with signs and symptoms of subdural hematoma within 6 hours to 50 days following the spinal surgery. Source of cerebrospinal fluid leak was most commonly from lumbar region (13 patients, 62%). Ten of 21 (48%) patients were treated conservatively. Late-onset neurological findings should not prevent the evaluation of cranial vault with computed tomography and magnetic resonance imaging. Spinal dural tear should be more aggressively treated instead of suture alone approach, when recognized in older patients during the spinal surgery.

Gamma Knife treatment of low-grade gliomas in children.

BACKGROUND: Low-grade gliomas have good overall survival rates in pediatric patients compared to adults. There are some case series that reported the effectiveness and safety of Gamma Knife radiosurgery, yet they are limited in number of patients. We aimed to review the relevant literature for pediatric low-grade glial tumors treated with stereotactic radiosurgery, specifically Gamma Knife radiosurgery, and to present an exemplary case. CASE DESCRIPTION: A 6-year-old boy was admitted to clinic due to head trauma. He was alert, cooperative, and had no obvious motor or sensorial deficit. A head CT scan depicted a hypodense zone at the right caudate nucleus. The brain magnetic resonance imaging (MRI) depicted a mass lesion at the same location. A stereotactic biopsy was performed. Histopathological diagnosis was low-grade astrocytoma (grade II, World Health Organization (WHO) classification, 2007). Gamma Knife radiosurgery was applied to the tumor bed. Tumor volume was 21.85 cm(3). Fourteen gray was given to 50% isodose segment of the lesion (maximal dose of 28 Gy). The tumor has disappeared totally in 4 months, and the patient was tumor-free 21 months after the initial treatment. DISCUSSION AND CONCLUSION: The presented literature review represents mostly single-center experiences with different patient and treatment characteristics. Accordingly, a mean/median margin dose of 11.3-15 Gy with Gamma Knife radiosurgery (GKRS) is successful in treatment of pediatric and adult low-grade glial tumor patients. However, prospective studies with a large cohort of pediatric patients should be conducted to make a more comprehensive conclusion for effectiveness and safety of GKRS in pediatric low-grade glial tumors.

Association of collagen I, IX and vitamin D receptor gene polymorphisms with radiological severity of intervertebral disc degeneration in Southern European Ancestor.

PURPOSE: Several genomic loci have been previously found to be associated with intervertebral disc degeneration, so far. Data are mostly derived from northern European countries whereas data derived from Southern European Ancestor are limited. This study aimed to evaluate the association between radiological disease severity of lumbar disc degeneration and certain genetic loci in a sample of participants from Southern Europe. METHODS: Seventy-five patients with mild to severe lumbar disc degeneration and 25 healthy controls were enrolled into the study. In each subject, each lumbar intervertebral disc was separately examined to obtain a total radiological score for disease severity. In addition, single-nucleotide polymorphisms of predefined genetic samples were analyzed in all participants: COL1A1 Sp1, COL9a2 Trp2, COL9a3 Trp3, and VDR TaqI. RESULTS: Degeneration scores were significantly worse in cases with COL1A1 Sp1, COL9a3 Trp3, and VDR TaqI mutations; however, COL9a2 Trp2 mutation was not associated with a difference in the severity of disc degeneration. In addition, subjects with mutation in more than one gene sample (n = 20) had significantly worse degeneration scores than the remaining study participants (n = 80) (17.70 ± 2.72 vs. 21.81 ± 1.81, p < 0.001). CONCLUSION: Single-nucleotide polymorphisms occurring in COL1A1, COL9a3 and VDR genes seem to be associated with the development of lumbar disc degeneration in this cohort, possibly with even more pronounced association when multiple mutations are present in the same individual. By further prospective twin studies in associated genes and analyses of their relationship with environmental factors in an internationally sampled large cohort will make a more clear-minded conclusion about their association with disc degeneration, which would yield better appreciation and clinical planning of some predisposed people for these pathologies.

Lumbar Spinal Immature Ganglioneuroma with Conus Medullaris Invasion: Case Report.

Ganglioneuroma (GN) is a benign rare tumor that originates from neural crest cells. It shares a common histogenic family with ganglioneuroblastoma and neuroblastoma and represents the most benign and differentiated form of the group. The most common locations of the GNs are the mediastinum and retroperitoneum. We report an extremely rare case of lumbar spinal GN with conus medullaris invasion and extradural paraspinal extension. A 10-year-old girl presented with a history of worsening lower-back pain and an intermittent tingling sensation in the left leg. Neurological examination revealed reduced sensation in the left L2-L5 dermatomes. Magnetic resonance imaging revealed an intra- and extradural mass extending from the D11 to L5 vertebral body level. There was conus medullaris invasion by the tumor. After L1-L5 laminotomies, the patient underwent tumor resection. Histopathological diagnosis was immature GN. GNs occurring within the spinal column are rare and may grow to a large size. Despite the size and the common involvement of both intra- and extraspinal compartments, the prognosis is usually excellent after complete excision using microsurgical techniques.

Giant Intracranial Cavernous Malformations: A Review on Magnetic Resonance Imaging Characteristics.

Background Intracranial cavernous malformations (CMs), commonly known as cavernomas or cavernous angiomas, are low-flow, well-circumscribed vascular lesions composed of sinusoidal spaces lined by a single layer of endothelium and separated by a collagenous matrix without elastin, smooth muscle, or other vascular wall elements. A diameter greater than 3 cm for a CM is unlikely. These lesions may have atypical appearances on magnetic resonance imaging (MRI). MRI with advanced techniques such as a susceptibility-weighted image or T2-gradient echo, a diffusion-weighted image and corresponding apparent diffusion coefficient map, and diffusion tensor tractography have revolutionized the diagnostic approach to these lesions. Materials and Method The present study reviews the etiopathogenesis, clinical manifestations, MRI strategy, and MRI appearances of the CMs, with a few examples of the giant CMs from our archive. Results Intracranial giant CMs may have unexpected locations, sizes, numbers, and varied imaging appearances due to repeated hemorrhages, unusual enhancement patterns, intense perifocal edema, and unusual associations, making the differential diagnosis difficult. Conclusion Familiarity with the MRI appearances of the giant intracranial CMs and the differential diagnosis improves diagnostic accuracy and patient management.

Successful Treatment of Severe Aplastic Anemia with Hematopoietic Stem Cell Transplantation in the Setting of Active Mucormycosis.

Severe aplastic anemia (SAA) is a life-threatening hematological disease characterized by the suppression of the bone marrow. Patients with SAA are predisposed to recurrent bacterial infections and invasive fungal infections (IFI) due to profound and persistent neutropenia. Mucorales are the second most common cause of IFI encountered in SAA. Here we present a pediatric case of SAA with active mucormycosis infection of the paranasal sinuses. In the first step, surgical debridement was performed and combined antifungal therapy (liposomal amphotericin B, posaconazole, caspofungin) was started. Due to severe neutropenia, daily granulocyte transfusion was added to therapy. Hyperbaric oxygen therapy was applied for wound healing. After all this the patient went under flap surgery. One week after the successful flap procedure, HSCT was performed and he had no complications related to HSCT. The patient was followed in the outpatient clinic for 6 months with posaconazole. Now, he is out of drugs and followed without problems for 15 months after HSCT. Our case confirms that urgent HSCT with multiple therapies (surgical debridement, granulocyte support, combined antifungal therapy, hyperbaric O2) is crucial for saving life in SAA patients with active mucormycosis.