Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature.

Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus. Gene mutation analysis revealed pathogenic biallelic mutations of PMS2 and heterozygous DICER1 variant predicted to be pathogenic. This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis.

Neurosarcoidosis: unusual presentations and considerations for diagnosis and management.

BACKGROUND: Sarcoidosis is a chronic, multisystem disease characterised by non-necrotising granulomatous inflammation of unknown aetiology. Most commonly, the lungs, lymph nodes, skin and eyes are affected in sarcoidosis; however, nervous system involvement occurs in approximately 5%-15% of cases. Any part of the nervous system can be affected by sarcoidosis. CASES: Herein we describe three unusual patient presentations of neurosarcoidosis, one with optic neuritis, a second with hydrocephalus and a third with cervical myelopathy. CONCLUSIONS: We include pertinent details about their presentations, imaging findings, pathology, management and clinical course.

Follicular lymphoma presenting as scalp mass deformity: Case Report and Review of the literature.

Lymphoma presenting as a scalp mass is a rare but serious medical condition mandating aggressive treatment and neurosurgical intervention. We report a case of 53-year-old male who presented with a large right sided frontal scalp mass and a smaller mass located on the left frontal scalp. After discussion with the patient, it was decided to resect the larger mass for definitive diagnosis. After subtotal resection of the mass, biopsy revealed WHO grade 1 follicular lymphoma (FL), diffuse pattern stage IV. The patient was subsequently treated with 4 grays (Gy) of palliative radiotherapy over 2 fractions to the right frontal scalp and systemic chemo-immunotherapy (6 cycles) followed by rituximab maintenance. Lumbar puncture to obtain cerebrospinal fluid was done a month after therapy began and the results were negative for spread of malignant cells. Approximately 3 months after initiation of therapy, PET/CT showed no evidence of active malignancy and MRI revealed a complete internal resolution of the enlarged right frontal scalp mass. We use this case to provide a detailed discussion regarding disease pathophysiology, early diagnosis, and management.

PEEK Implant: A Case Report Illustrating the Benefits for Correcting Craniosynostosis Asymmetry.

BACKGROUND: Unilateral coronal synostosis can cause aesthetically unappealing plagiocephaly, which often requires surgical correction. The techniques utilized for this operation have continued to evolve. Unfortunately, some patients who have fronto-orbital advancement will have residual asymmetry. CASE: We present a case of a 21 year-old female with residual asymmetry who was suffering from facial swelling and refractory trigeminal neuralgia. It was decided to perform an additional surgery with polytheretheketone (PEEK) implant to restore normal symmetry and provide symptomatic relief. CONCLUSION: The ideal fit PEEK implant provided excellent cosmetic results and the operation relieved her symptoms. We provide a detailed discussion on why PEEK implants are great options for these types of cases due to advanced pre-surgical planning technology, ease of placement, and durability over time.

Glioblastoma Survival Outcomes at a Tertiary Hospital in Appalachia: Factors Impacting the Survival of Patients Following Implementation of the Stupp Protocol.

BACKGROUND: Glioblastoma is a fatal brain cancer with low median and yearly survival rates. Standard of care for treating glioblastoma is gross total resection (GTR) coupled with the Stupp protocol, but various factors influence the interventions undertaken and survival achieved. As health disparities exist in rural areas, survival in these areas needs to be assessed to understand which factors detract from the successes of these standard medical interventions. METHODS: We retrospectively determined impact of age at diagnosis, number of lesions, the molecular marker O6-methylguanine methyltransferase (MGMT), extent of surgery, and completion of the Stupp protocol on survival in patients treated at West Virginia University Hospitals. We also compared our findings with a pre-Stupp protocol study done in West Virginia in 1996. RESULTS: Age <60 years at diagnosis, having the MGMT gene methylated, having a unifocal tumor, receiving GTR, adhering to the Stupp protocol, and undergoing a treatment course of GTR followed by the Stupp protocol significantly increased survival. Comparison with the 1996 study showed that although overall median survival has not increased, all interventions involving GTR have resulted in a significantly higher survival. CONCLUSIONS: We can serve our patient population by offering GTR to all adult patients with glioblastoma when no contraindications exist and ensuring that patients follow the Stupp protocol. After discharge, the Stupp protocol may not be followed or completed for a variety of reasons. In the future, we aim to assess these reasons and analyze other significant interventional and socioeconomic factors that influence survival.

Relationship of the sinus anatomy to surface landmarks is a function of the sinus size difference between the right and left side: Anatomical study based on CT angiography.

BACKGROUND: Several cadaveric studies demonstrate reliable localization of the transverse sinus and the transverse sigmoid junction (TSJ). These studies use the line drawn from the inion to the posterior root of the zygoma (IZ) and the asterion, respectively. We investigated how the size difference between the right and left transverse sinuses (TS) and sigmoid sinuses (SS) affected the accuracy of their respective superficial landmarks, particularly with regards to where this relationship may result in unsafe and/or complicated surgical access. METHODS: We utilized Vitrea software to render three-dimensional images based on computed tomographic angiography (CTA). We measured the relationship between the TS and SS to their respective superficial landmarks. RESULTS: We analyzed 50 patients in this study. The distal TS was found caudal to the inion-to-zygoma (IZ) line on average by 5.0 ± 4.3 mm on the right and 6.4 ± 9.3 mm on the left. The mid TS was found cranial on average 3.5 ± 5.7 mm on the right and 3.2 ± 6.0 mm cranial on the left to the superior nuchal line (SNL). The distance from the asterion to the SS was 11.5 ± 2.4 mm medial on the right and 12.1 ± 4.4 mm medial on the left. The average distance was greater on the left than the right when using the IZ landmark. This was directly proportional to the size difference of the sinuses (r2 = 0.15, P = 0.03). CONCLUSIONS: Statistically significant differences between the right and left TS and SS were seen in terms of size. This appeared to correlate nicely to the differences observed between the locations of the TSs' and their respective superficial landmarks.

Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature.

Plagiocephaly is a common condition that affects infants. It can be broadly grouped into positional and non positional plagiocephaly Positional plagiocephaly frequently resolves without intervention. Non positional plagiocephaly resulting from craniosynostosis often requires surgical intervention. In this case report, we present a rare case of unilateral frontosphenoid craniosynostosis. We discuss the appropriate diagnostic workup, the available treatment options, and patient follow-up over time. Furthermore, we provide a detailed review of the literature discussing treatment options for aesthetic appearance as the child ages.

Lipomatous meningioma: Case report and review of the literature.

Lipomatous meningiomas are a very rare form of brain meningiomas consisting of fat accumulation within the tumor. Magnetic resonance imaging (MRI) or computerized tomographic (CT) imaging can be utilized to visualize the fat accumulations, but histopathologic staining is necessary in order to make a definitive diagnosis. The key histopathologic feature is the identification of adipocyte-like cells within the tumor, but other markers have also been identified. In this case report and review of the literature, we discuss how to recognize the symptoms associated with lipomatous meningiomas and the definitive treatment approach for these rare tumors.

Therapeutic targeting of astrocytes after traumatic brain injury.

Traumatic brain injury (TBI) remains a leading cause of mortality and morbidity worldwide. A major focus of preclinical research has focused on understanding the mechanisms of acute cell death after TBI; however, translation of these findings into the clinic has failed to improve long-term patient outcomes. Recent work suggests astrocytes, the predominant cell type within the human brain, may actively contribute to neurological demise by exacerbating secondary brain injury after TBI. Along these lines, astrocytes may promote neuroinflammation, increase the development of cerebral edema, and contribute to elevated intracranial pressure after brain injury. The primary goal of this mini-review is to summarize the growing body of literature that suggests reactive astrocytes influence the brain response to TBI. To maintain focus, we will limit our discussion to the mechanisms of cerebral edema.