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Open access

Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case

Sarut Chaisrisawadisuk, Nithiwat Vatanavicharn, Verayuth Praphanphoj, Peter J. Anderson, and Mark H. Moore

BACKGROUND

Squamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.

OBSERVATIONS

The authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12–1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality.

LESSONS

Isolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12–1p13.3 deletion.

Open access

Bone formation in custom-made cranioplasty: evidence of early and sustained bone development in bioceramic calcium phosphate implants. Patient series

Jimmy Sundblom, Fabjola Xheka, Olivera Casar-Borota, and Mats Ryttlefors

BACKGROUND

Implant failure (IF) rates in cranioplasty remain high despite efforts to reduce the incidence. New biomaterials may be part of the solution for this problem. Formation of autologous bone in implants may reduce rates of infection and subsequent failure.

OBSERVATIONS

Four patients with calcium phosphate implants supported by titanium mesh and undergoing surgery for reasons unrelated to IF were included in this series. Samples from the implants were microscopically examined. Pathological studies proved the formation of autologous bone in the calcium phosphate implants.

LESSONS

Bone and blood vessel formation in the implants and diminished foreign body reaction to autologous bone may reduce the rates of IF.

Open access

Three decades of progress from surgery to medical therapy for isolated neuroaxis BRAF V600E–positive Langerhans cell histiocytosis management: illustrative case

Nallammai Muthiah, Kamil W. Nowicki, Jennifer L. Picarsic, Michael P. D’Angelo, Daniel F. Marker, Edward G. Andrews, Edward A. Monaco III, and Ajay Niranjan

BACKGROUND

“Langerhans cell histiocytosis” (LCH) is a term that encompasses single-system or multisystem disorders traditionally characterized by a proliferation of clonal CD1a+/CD207+ myeloid-derived histiocytes. In most cases of LCH, mitogen-activated protein kinase (MAPK) pathway somatic mutations lead to near universal upregulation of phosphorylated extracellular signal-regulated kinase expression. The clinical manifestations of LCH are numerous, but bone involvement is common. Intracranial lesions, especially as isolated manifestations, are rare.

OBSERVATIONS

The authors presented the case of a long-term survivor of exclusive intracranial LCH that manifested with isolated craniofacial bone and intraparenchymal central nervous system recurrences, which were managed with 3 decades of multimodal therapy. The patient was initially diagnosed with LCH at age 2 years, and the authors documented the manifestations of disease and treatment for 36 years. Most of the patient’s treatment course occurred before the discovery of BRAF V600E. Treatments initially consisted of chemotherapy, radiosurgery, and open resections for granulomatous LCH lesions. Into young adulthood, the patient had a minimal disease burden but still required additional radiosurgical procedures and open resections.

LESSONS

Surgical treatments alleviated the patient’s immediate symptoms and allowed for tumor burden control. However, surgical interventions did not cure the underlying, aggressive disease. In the current era, access to systemic MAPK inhibitor therapy for histiocytic lesions may offer improved outcomes.

Open access

Resection of a rare giant chondromesenchymal hamartoma of the scalp with intracranial blood supply in an adult woman: illustrative case

Parménides Guadarrama-Ortiz, Omar Choreño-García, Deyanira Capi-Casillas, Alondra Román-Villagómez, Homero Alcocer-Villanueva, César Adán Almendárez-Sánchez, and José Alberto Choreño-Parra

BACKGROUND

Nasal chondromesenchymal hamartomas (NCMHs) are benign, slow-growing lesions formed by mesenchymal and cartilaginous components. They occur predominantly in male infants at the nasopharynx and orbit. Rare cases have been reported in adults. Ectopic NCMHs occurring in other head regions without the typical nasopharyngeal or orbital involvement have not been previously described.

OBSERVATIONS

The authors presented the case of a 40-year-old woman with a giant mass in the left frontoparietal region that started to enlarge progressively after the patient’s first pregnancy at the age of 21 years. The tumor caused intense headaches, nausea, vomiting, asthenia, and syncope. On admission, the neurological examination revealed no abnormalities. Brain magnetic resonance imaging showed a solid homogeneous tumor without intraaxial involvement extending inferiorly to the left zygomatic arch, with a significant mass effect on the adjacent bones but no infiltration. Remarkably, digital subtraction angiography demonstrated that the tumor received blood supply from superficial as well as intracranial branches of the left vertebral artery. After tumor resection, histopathological analysis revealed characteristics indistinguishable from an NCMH.

LESSONS

The authors described a rare NCMH of the scalp with intracranial blood supply in an adult patient. A case with similar characteristics had not been reported before.

Open access

The rare presentation of a frontal mucocele complicated by a Pott’s puffy tumor and an epidural-cutaneous fistula: illustrative case

Mahmoud S. Abbas, Anas S. Al-Smadi, Marisa Smitt, Atefeh Geimadi, and Ali W. Luqman

BACKGROUND

Frontal mucoceles develop due to accumulation of mucoid secretions within the frontal sinuses. They can lead to serious consequences with further expansion and destruction of the surrounding bones or infection that might spread intracranially.

OBSERVATIONS

The authors present a case of a 37-year-old male with a frontal mucocele and the rare presentation of Pott’s puffy tumor and an epidural-cutaneous fistula, as well as a literature review of previously reported cases of epidural cutaneous fistula and sinocutaneous fistula, their predisposing factors, and their management.

LESSONS

A mucocele is a benign entity that can rarely present with potentially significant complications. Open surgery is required in patients who have frontal sinus posterior wall involvement, osteomyelitis, or intracranial involvement.

Open access

Intraosseous meningioma, a rare presentation of a common brain tumor: illustrative case

Sherif Elwatidy, Abdulaziz Alanazi, Rahaf F. Alanazi, and Khulood K. Alraddadi

BACKGROUND

The subset of extradural meningiomas arising from bone is called primary intraosseous meningioma. The present article outlines the clinical presentation, investigation, surgical management, and clinical outcomes of a challenging case of intraosseous meningioma.

OBSERVATIONS

A 27-year-old male presented with new-onset seizure of 3 years’ duration and growing painless hard swelling involving the left frontoparietal bone, the medial aspect of the left orbit, the nasal bone, and the temporal bone. Brain computed tomography showed a diffuse intradiploic space osseous lesion with a ground-glass appearance. The patient underwent bifrontal craniotomy and tumor excision. The histopathological sections showed the presence of classic whorls of meningothelial cells around reactive bony tissue suggestive of intraosseous meningioma. Postoperatively, the patient was neurologically intact, and he was discharged in a stable condition. The outcome of this case was satisfactory.

LESSONS

The treatment of primary intraosseous meningioma is wide surgical excision together with the involved dura and any intradural tumor. The location of the tumor determines the approach and the amount of resection, keeping in mind preservation of function. The use of adjuvant therapy is reserved for cases of tumor recurrence or an atypical type.

Open access

Complications in craniosynostosis surgery in patients with rickets: illustrative case and systematic review of literature

Myles N. LaValley, Kyle Zappi, Sergio Wesley Guadix, Alexandra M. Giantini-Larsen, Andrew L. A. Garton, Linda A. Heier, Thomas A. Imahiyerobo, and Caitlin E. Hoffman

BACKGROUND

Craniosynostosis (CSS) is the premature fusion of calvarial sutures associated with identified genetic mutations or secondary to alterations in intracranial pressure, brain, or bone growth patterns. Of the metabolic etiologies implicated in CSS, X-linked hypophosphatemic rickets (XLHR) is the most common, with dysfunctional bone mineralization leading to progressive hyperostosis and delayed synostosis. There is a paucity of literature discussing the unique surgical considerations for XLHR-related CSS.

OBSERVATIONS

A 26-month-old male with XLHR-related sagittal CSS underwent cranial vault remodeling (CVR). Surgery was complicated by the presence of diploic hypertrophy with significant intraoperative estimated blood loss (EBL). EBL greatly exceeded reference ranges for CVR in all-cause CSS. As a result, the surgical goals were modified and the complete planned procedure aborted. Subsequent review of preoperative imaging revealed multiple fine vascular lacunae within the bone. A systematic literature review was conducted to identify reported complications relating to surgical intervention for rickets-associated CSS.

LESSONS

Future considerations for patients with XLHR-related CSS should emphasize awareness of metabolic risk factors with associated complications, and the need for selection of approach and operative management techniques to avoid EBL. Further research is required to elucidate underlying mechanisms and determine whether the encountered phenomenon is characteristic across this patient population and potentially minimized by preoperative medical therapy.

Open access

Cerebrospinal fluid fistula as a complication of reverse transcriptase–polymerase chain reaction collection for the detection of coronavirus disease 2019: illustrative cases

Lucca B. Palavani, Camila V. F. Andrade, Renato A. Andrade, Egmond Alves, Marcio Falchi Barros, and João F. Barbieri

BACKGROUND

The most used method to detect coronavirus disease 2019 during the pandemic is reverse transcriptase–polymerase chain reaction with nasal swab. Despite being highly effective, the test does not leave the patient risk-free and can lead to serious complications. These can be traumatic nasal cerebrospinal fluid (CSF) fistula and its consequences, such as meningitis.

OBSERVATIONS

In this article, the authors present 4 case reports and a literature review. The following MeSH terms in the research were used: “CSF leak case report and covid 19.” Six results were found and after searching the references and keywords 16 articles were identified. By using them, the authors tried to clarify the etiology of the fistula, its influences, and complications.

LESSONS

The authors conclude that professionals must receive training, since CSF fistula originates from technical failure and lack of anatomical knowledge. The diagnosis cannot be neglected because it can bring complications to the patient’s health.

Open access

Extensive extracranial growth of spheno-orbital meningioma: illustrative case

Makoto Saito, Shinjitsu Nishimura, Sumito Okuyama, Keiichi Kubota, Junko Matsuyama, Atsuhito Takemura, Tadao Matsushima, Hideo Sakuma, and Kazuo Watanabe

BACKGROUND

Spheno-orbital meningioma (SOM) typically presents with a classic triad of symptoms (i.e., proptosis, visual impairment, and ocular paresis), resulting from intraorbital tumor invasion. The authors present a very rare case of SOM in which the chief complaint was swelling of the left temporal region, which, to the best of their knowledge, has not been reported previously.

OBSERVATIONS

The patient presented with marked extracranial extension to the left temporal region but unremarkable intraorbital extension, even on radiological examination. Physical examination of the patient showed almost no exophthalmos or restriction of left eye movement, consistent with the radiological findings. Four separate meningioma specimens were removed by extraction (i.e., one each from the intracranial, extracranial, and intraorbital segments of the tumor and one from the skull). The World Health Organization grade was 1 and the MIB-1 index was less than 1%, indicating a diagnosis of a benign tumor.

LESSONS

SOM may be present even in patients with only temporal swelling and few ocular-related symptoms, and detailed imaging evaluations may be required to identify the tumor.

Open access

Clival intraosseous myxoma treated with an endoscopic endonasal approach: illustrative case

Mokshal H. Porwal, Daniel M. Aaronson, Abrahim N. Razzak, and Nathan T. Zwagerman

BACKGROUND

Solitary lesions of the clivus, especially nonchordomatous ones, are exceptionally rare pathologies representing only 0.1%–0.2% of intracranial tumors that may present diagnostic and therapeutic challenges. Intraosseous myxomas are benign tumors arising from mesenchymal cells with an unknown pathophysiology.

OBSERVATIONS

In this article, a 15-year-old male with clival intraosseous myxoma who was treated via an endoscopic endonasal surgical approach is presented. The patient became symptomatic after a baseball struck his head, leading to throbbing headaches and visual difficulties for tracking objects. Examination noted diplopia, cranial nerve VI palsy, and ptosis. After imaging revealed a tumor extending to the left cavernous sinus with bulging of the dorsal clivus against the basilar artery/ventral pons, resection was performed. Postoperatively, the patient noted ocular motility and alignment improvement without further complications.

LESSONS

Clival masses present with symptoms from compromised neurovascular structures including visual disturbances and trigeminal sensory deficits. Given the rarity of these entities, patients may postpone further treatment until workup; this patient was misdiagnosed for possible concussion until several weeks passed. A PubMed database review of cranial myxoma cases was conducted to identify solitary clival intraosseous myxoma cases. This case is one of the few in which this pathology was treated through an endoscopic endonasal operative approach without complications, demonstrating its safety and effectiveness.