Pediatric midline H3K27M-mutant tumor with disseminated leptomeningeal disease and glioneuronal features: case report and literature review.

BACKGROUND: H3K27M-mutant midline lesions were recently reclassified by the World Health Organization (WHO) as "diffuse midline glioma" (DMG) based entirely on their molecular signature. DMG is one of the most common and most lethal pediatric brain tumors; terminal progression is typically caused by local midbrain or brainstem progression, or secondary leptomeningeal dissemination. H3K27M mutations have also been infrequently associated with a histologically and prognostically diverse set of lesions, particularly spinal masses with early leptomeningeal spread. CASE PRESENTATION: A 15-year-old girl after 1 week of symptoms was found to have a T2/FLAIR-hyperintense and contrast-enhancing thalamic mass accompanied by leptomeningeal enhancement along the entire neuraxis. Initial infectious workup was negative, and intracranial biopsy was inconclusive. Spinal arachnoid biopsy revealed an H3K27M-mutant lesion with glioneuronal features, classified thereafter as DMG. She received craniospinal irradiation with a boost to the thalamic lesion. Imaging 1-month post-radiation demonstrated significant treatment response with residual enhancement at the conus. CONCLUSIONS: This case report describes the unique presentation of an H3K27M-mutant midline lesion with significant craniospinal leptomeningeal spread on admission and atypical glioneuronal histopathological markers. With such florid leptomeningeal disease, spinal dural biopsy should be considered earlier given its diagnostic yield in classifying the lesion as DMG. Consistent with similar prior reports, this lesion additionally demonstrated synaptophysin positivity-also potentially consistent with a diagnosis of diffuse leptomeningeal glioneuronal tumor (DLGNT). In atypical DMG cases, particularly with leptomeningeal spread, further consideration of clinical and histopathological context is necessary for accurate diagnosis and prognostication.

Quality of life, hypothalamic obesity, and sexual function in adulthood two decades after primary gross-total resection for childhood craniopharyngioma.

PURPOSE: All treatments for childhood craniopharyngioma are associated with complications that potentially affect quality of life. This study was designed to investigate the impact of gross total resection on long-term quality of life and sexual functioning in adulthood. METHODS: Adults treated with primary gross total resection for childhood craniopharyngioma and ≥ 10 years of follow-up were included in this retrospective cohort study. The Short Form 36 Health Survey Questionnaire Version 2 (SF-36v2), Medical Outcomes Study (MOS) sexual functioning survey, and a sociodemographic/health questionnaire were administered. RESULTS: Twenty-two subjects with a median length of follow-up of 19 years (range 12-30) completed the questionnaires. Fifty-five percent reported excellent or very good general health. There was no significant difference of the mean SF-36v2 score between the patient cohort and the normal population. Twenty-two percent of females and 54% of males reported at least "a little of a problem" in one or more areas of sexual functioning, similar to the normal population. The proportion of sexually active individuals was decreased in this cohort. The median BMI of the participants was 29.5 (range 22.1-50.0 kg/m2). Preoperative hypothalamic involvement correlated with a significantly higher BMI, although the proportion of participants with class 3 obesity (BMI ≥ 40) did not differ significantly from that of the general population (9% and 7%, respectively). CONCLUSIONS: Young adults with gross total resection of childhood craniopharyngioma report similar quality of life and sexual functioning compared to the general population, but appear to be less sexually active. Hypothalamic involvement on preoperative imaging was associated with a higher BMI in long-term follow-up.

The Ethics of Psychosocial Assessment in Vascularized Composite Allotransplantation: A Call for Transparency of Process to Support the Equitable Selection of Patients.

As the field of vascularized composite allotransplantation (VCA) continues to evolve and technological approaches improve, VCA programs must focus on promoting greater consistency in psychosocial assessment across programs to support the equitable selection of patients. Based on a summary of published reports of VCA, we address the ethical considerations raised by the present heterogeneity of approaches to psychosocial assessment, including weighing risks and benefits, informed consent and the role of decisional capacity, and potential or perceived bias in the assessment process. We propose transparency of process across the field and encourage VCA programs to work collaboratively to share approaches to psychosocial assessment both pre- and post-transplant to promote health equity.

Self-Inflicted Gunshot Wound as a Consideration in the Patient Selection Process for Facial Transplantation.

Facial transplantation is emerging as a therapeutic option for self-inflicted gunshot wounds. The self-inflicted nature of this injury raises questions about the appropriate role of self-harm in determining patient eligibility. Potential candidates for facial transplantation undergo extensive psychosocial screening. The presence of a self-inflicted gunshot wound warrants special attention to ensure that a patient is prepared to undergo a demanding procedure that poses significant risk, as well as stringent lifelong management. Herein, we explore the ethics of considering mechanism of injury in the patient selection process, referring to the precedent set forth in solid organ transplantation. We also consider the available evidence regarding outcomes of individuals transplanted for self-inflicted mechanisms of injury in both solid organ and facial transplantation. We conclude that while the presence of a self-inflicted gunshot wound is significant in the overall evaluation of the candidate, it does not on its own warrant exclusion from consideration for a facial transplantation.

Perceived Esthetic Outcomes of Face Transplantation: A Survey of the General Public.

Facial transplantation (FT) has attracted the interest of individuals with facial disfigurement as a path to social reintegration. The perception among face transplant recipients and the reconstructive surgery community appears to be that superior functional and esthetic outcomes can be obtained with FT compared to autologous reconstruction (AR). Although lifelong immunosuppression adds well-known risks to FT, its benefits have proven difficult to quantify, especially because of its non-life-saving nature. Evidence that the general public perceives facial allograft recipients as less disfigured than AR patients may dramatically alter the currently accepted risk/benefit ratio of this novel procedure. A survey containing independent images of individuals in nondisfigured (ND), autologous facial reconstruction, and FT groups was administered to the general public in an urban environment. Participants assigned a disfigurement score to each photograph using the Observer-Rated Facial Disfigurement Scale, a validated instrument used to rate facial disfigurement among head and neck cancer patients. One-way analysis of variance was used to calculate differences in mean level of perceived facial disfigurement among the 3 groups. A total of 250 participants completed the survey. Mean perceived disfigurement scores assigned to the ND, FT, and AR groups were 1.2 ±â€Š0.4, 4.9 ±â€Š1.3, and 8.5 ±â€Š0.6, respectively. A significant difference in disfigurement score was observed between all 3 groups (P < 0.001). This pilot study suggests that the general public perceives the esthetic outcome of FT to be superior to those obtained with AR in patients with severe facial defects.

Surgical Ligation of an Indirect Carotid-Cavernous Fistula With Exclusive Retrograde Cortical Venous Drainage: 2-Dimensional Operative Video.

Indirect carotid-cavernous fistulas (CCFs) are abnormal connections between the cavernous sinus and branches of the internal and external carotid arteries. Indirect CCFs with progressive cortical venous drainage require obliteration to prevent neurological decline secondary to their rupture or progression. While indirect CCFs are often treated with transvenous embolization of their venous outflow through the inferior or superior petrosal sinuses, facial vein, or superior ophthalmic vein, CCFs failing previous embolization may be best treated with surgical ligation. Here we present the case of a 30-year old woman who, 3 years before presentation to our institution, presented with transient monocular blindness to an outside institution. Catheter angiography revealed a CCF without cortical venous drainage which was partially embolized with coils. Catheter angiography at the 1-year follow-up revealed CCF progression characterized by cortical venous drainage into a right cortical vein, basal temporal vein, and the vein of Labbé. The lesion was treated with partial onyx embolization. Two years later, further evaluation at our institution demonstrated cortical venous ectasia-confirming CCF progression. Though asymptomatic, the risk of neurological decline secondary to progression or rupture of the lesion was high given the progressive cortical venous drainage, and treatment was indicated. As the lesion failed endovascular therapy twice, the patient underwent a right pterional craniotomy for surgical disconnection of the CCF's main draining vein and other fistulous connections. The patient had an uneventful recovery, and postoperative catheter angiography suggested complete obliteration of the lesion. Appropriate consent was obtained for the publication of the cadaver's image. The patient consented to the procedure and video recording.

Orbital Rosai-Dorfman disease initially diagnosed as IgG4-related disease: a case report.

Inflammatory orbital lesions include a broad list of diagnoses, many of them with overlapping clinical and radiographic features. They often present a diagnostic conundrum, even to the most experienced orbital specialist, thus placing considerable weight on surgical biopsy and histopathological analysis. However, histopathological diagnosis is also inherently challenging due to the rarity of these lesions and the overlaps in histologic appearance among distinct disease entities. We herein present the case of an adolescent male with a subacutely progressive orbital mass that generated a significant diagnostic dilemma. Early orbital biopsy was consistent with a benign fibro-inflammatory lesion, but corticosteroid therapy was ineffective in halting disease progression. After an initial substantial surgical debulking, histopathological analysis revealed several key features consistent with IgG4-related disease (IgG4-RD), a systemic fibro-inflammatory process typically accompanied by multifocal tumor-like lesions. Surprisingly, within months, there was clear evidence of clinical and radiographic disease progression despite second-line rituximab treatment, prompting a second surgical debulking. This final specimen displayed distinctive features of Rosai-Dorfman disease (RDD), a systemic inflammatory disease characterized by uncontrolled histiocytic proliferation. Interestingly, certain features of this re-excision specimen were still reminiscent of IgG4-RD, which not only reflects the difficulty in differentiating RDD from IgG4-RD in select cases, but also illustrates that these diagnoses may exist along a spectrum that likely reflects a common underlying pathogenetic mechanism. This case emphasizes the importance of surgical biopsy or resection and histopathological analysis in diagnosing-and, ultimately, treating-rare, systemic inflammatory diseases involving the orbit, and, furthermore, highlights the shared histopathological features between RDD and IgG4-RD.

Volumetric growth rates of untreated vestibular schwannomas.

OBJECTIVE: There remains a large discrepancy among surgeons in expectations of vestibular schwannoma (VS) growth. The anticipated growth rate of a VS and its potential clinical impact are important factors when deciding whether to observe the lesion over time or to intervene. Previous studies of VS natural growth remain limited, mostly confined to linear measurements, often without high-resolution, thin-sequence imaging. The present study comprehensively assessed natural tumor growth rates using volumetric measurements. METHODS: Between 2012 and 2018, 212 treatment-naïve patients diagnosed with a unilateral VS were evaluated. A total of 699 MR images were assessed, with a range of 2-11 MR images per patient. All MR images preceded any intervention, with patients subsequently being observed through completion of data analysis (36%) or treated with stereotactic radiosurgery (32%) or microsurgical resection (32%). To determine precise tumor volumes, the tumor area was outlined on every slice, and the products of the area and slice thickness were summed (99% of scans were ≤ 1-mm slice thickness). A multilevel model with random effects was used to assess the mean volume change over time. Each tumor was categorized as one of the following: growing (volume increase by more than 20% per year), fast growing (volume increase by more than 100% per year), stable (volume change between 20% decrease and 20% increase per year), and shrinking (volume decrease by more than 20% per year). RESULTS: The mean VS volumetric growth rate was 33.5% per year (95% CI 26.9%-40.5%, p < 0.001). When assessing the frequencies of individual tumor annual growth rates, 66% demonstrated growth (30% fast growing), 33% were stable, and 1% exhibited shrinking over an average interval of 25 months. Larger tumors were associated with increased absolute growth, but there was no relationship between tumor size and proportional growth rate. There was also no relationship between patient age and tumor growth rate. CONCLUSIONS: This study comprehensively assessed VS volumetric growth rates using high-resolution images and was conducted in a large and diverse patient sample. The majority of the tumors exhibited growth, with about one-third growing at a rate of 100% per year. These findings may contribute to a consensus understanding of tumor behavior and inform clinical decisions regarding whether to intervene or observe.

Regression after subtotal resection of an optic pathway glioma in an adult without adjuvant therapy: case report.

Optic pathway gliomas (OPGs) are relatively common and benign lesions in children; however, in adults these lesions are nearly always malignant and hold a very poor prognosis. In this report the authors present the case of an adult patient with a benign OPG who underwent subtotal resection without adjuvant therapy and has had no tumor progression for more than 20 years. A 50-year-old woman presented with a 2-year history of personality changes, weight gain, and a few months of visual disturbances. Ophthalmological evaluation showed incomplete right homonymous hemianopsia. MRI demonstrated a 2.5 × 2.5 × 2.5-cm enhancing left-sided lesion involving the hypothalamus with extension into the suprasellar cistern, extending along the left optic tract and anterior to the level of the optic chiasm. A biopsy procedure revealed a juvenile pilocytic astrocytoma. A subtotal resection of approximately 80% of the tumor was performed. Postoperatively, the patient experienced complete resolution of her personality changes, and her weight decreased back to baseline. Ophthalmological examination showed increased right homonymous hemianopsia. In the years following her surgery, there was a spontaneous decrease in tumor size without adjuvant therapy. The patient continues to have an excellent quality of life despite a visual field defect, and no further tumor growth has been observed.

Time to Resolution of Symptoms After Suboccipital Decompression with Duraplasty in Children with Chiari Malformation Type I.

BACKGROUND: Duraplasty is a technique successfully used to treat Chiari malformation type I (CM-I). This study describes the timely manner of clinical outcomes and the postoperative course after craniectomy and duraplasty for the treatment of symptomatic CM-I in children. METHODS: A retrospective chart review was performed in 105 consecutive children who underwent surgical decompression of symptomatic CM-I with dural opening by a single surgeon between 1999 and 2015. RESULTS: In 16 of 28 children (57%) with typical Valsalva-related/tussive and mixed headaches, the symptoms resolved before discharge; by 6 months, all children were headache-free. Two of 28 children (7%) had recurrent headaches 9 months after surgery. Among the 78 children with syrinx, syrinx resolved or decreased in 68 (87%), recurred in 8 (10%), and was stable in 2 children (3%). Syrinx was resolved or decreased by 3 months in 51 children (65%) and by 6 months in 62 children (79%). Complications included aseptic meningitis requiring reoperation in 3 children (3%) and infection in one child (1%). Twelve children underwent reoperation, none within the first 30 days. No child had a major morbidity or mortality. CONCLUSIONS: In carefully selected children with CM-I, a high success rate can be achieved with suboccipital decompression and duraplasty. Valsalva-related/tussive headaches resolved by the time of discharge from the hospital in the majority of children, and syrinx resolved or decreased in two-thirds of the children by 3 months. By 6 months, headaches were resolved in all cases, and syrinx was resolved or decreased in 79% of cases.