History Of Neurofibromatosis Type Research Articles

Catastrophic rupture of an internal carotid aneurysm in a neurofibromatosis type 1 patient: A critical case study

Catastrophic rupture of an internal carotid aneurysm in a neurofibromatosis type 1 patient: A critical case study

Posterior Transdural Approach for Thoracic Corpectomies in the Setting of Complex Spine Deformity Reconstruction.

There are many surgical approaches for execution of a thoracic corpectomy. In cases of challenging deformity, traditional posterior approaches might not be sufficient to complete the resection of the vertebral body. In this technical note, we describe indications and technique for a transdural multilevel high thoracic corpectomy. A 25-year-old man with a history of neurofibromatosis type 1 presented with instrumentation failure after a previous T1-T12 posterior spinal fusion, extensive laminectomy, and tumor resection. The patient presented with progressive back pain, had broad dural ectasia, and a progressive kyphotic rotational and anteriorly translated spinal deformity. To resect the medial-most aspect of the vertebral body, a bilateral extracavitary approach was attempted, but was found insufficient. A transdural approach was subsequently performed. A left paramedian durotomy was made, followed by generous arachnoid dissection, bilateral dentate ligament division, and T4 rootlet sacrifice to mobilize the spinal cord. A ventral durotomy was then made and the ventral dura was reflected over the spinal cord to protect it while drilling. The corpectomy was then completed. The ventral and dorsal durotomies were closed primarily and reinforced with fibrin glue and fibrin sealant patch. The corpectomy defect was filled with nonstructural autograft. The focal kyphosis was corrected with a combination of rod contouring, compression, and in situ bending. During the surgery, the patient had stable neuromonitoring data, and postoperatively had no neurological deficits. On follow-up until 1 year, the patient presented with no signs of cerebrospinal spinal leaks, no motor or sensory deficits, minimal incisional pain, and significantly improved posture. Complex high thoracic (T3-5) ventral pathology inaccessible via a bilateral extracavitary approach may be accessed via a transdural approach as opposed to an anterior/lateral transthoracic approach that requires mobilization of cardiovascular structures or scapula.

Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report

BackgroundNeurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system. Due to its connection with vascular fragility, neurofibromatosis type 1 has been reported to be associated with vascular lesions, such as aneurysms. However, there have been few reports of abdominal visceral aneurysms associated with neurofibromatosis type 1. Furthermore, there have been no reports of robotic treatment of aneurysms associated with neurofibromatosis type 1. In this report, we describe the case of a patient with neurofibromatosis type 1 with a splenic artery aneurysm who was successfully treated with robotic surgery.Case presentationThis report describes a 41-year-old Asian woman with a history of neurofibromatosis type 1 who was referred to our hospital for evaluation of a 28 mm splenic artery aneurysm observed on abdominal ultrasound. The aneurysm was in the splenic hilum, and transcatheter arterial embolization was attempted; however, this was difficult due to the tortuosity of the splenic artery. Thus, we suggested minimally invasive robotic surgery for treatment and resection of the splenic artery aneurysm with preservation of the spleen. The postoperative course was uneventful, and the patient was discharged on the eighth day after surgery. At 1 year of follow-up, the patient was doing well, with no evidence of recurrence.ConclusionWe encountered a rare case of splenic artery aneurysm in a patient with neurofibromatosis type 1 who was successfully treated with robotic surgery. There is no consensus on treatment modalities for neurofibromatosis-related aneurysms, and endovascular treatment is considered safe and effective; however, surgery remains an important treatment modality. Especially in patients with stable hemodynamic status, robotic surgery may be considered as definitive treatment. To our knowledge, this is the first successfully treated case of a splenic artery aneurysm in a patient with neurofibromatosis type 1.

Giant gluteal and vesical plexiform neurofibromas in a patient with neurofibromatosis type 1: a case report

BackgroundNeurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas. The most common type of tumor seen in patients with neurofibromatosis type 1 is the slow-growing and benign neurofibroma, with a subtype called plexiform neurofibroma being particularly common and causing pain, functional impairment, and cosmetic disfigurement.Case presentationWe report the case of a 20-year-old North African female patient with a history of neurofibromatosis type 1 who presented with a growing mass in her right gluteal region, which was later diagnosed as a giant cutaneous neurofibroma. Imaging studies revealed infiltration in several regions, including the urinary bladder wall, resulting in significant bilateral hydronephrosis. The patient is currently being monitored, and no excisional procedures are planned.ConclusionsNeurofibromatosis type 1 can cause a variety of clinical symptoms, including the development of large plexiform neurofibromas. It is important to closely monitor patients with neurofibromatosis type 1 for the early detection of neurofibromas. Early detection and prompt surgical intervention are essential for preventing complications.

Predictors of clinical and structural outcomes after surgery for spinal nerve sheath tumor resection: a retrospective analysis.

Resection of spinal nerve sheath tumors (SNSTs) typically necessitates laminectomy, often with facetectomy, for adequate exposure of tumor. While removal of bone affords a greater operative window and extent of resection, it places the patient at greater risk for spinal instability. Although studies have identified risk factors for fusion at the time of tumor resection, there has yet to be a study assessing long-term stability following SNST resection. In this study, the authors sought to identify preoperative and operative risk factors that predispose to long-term spinal instability and investigate clinical variables associated with greater risk for subsequent fusion in the time following initial SNST resection. An institutional registry of spinal surgeries was queried at a single institution over a 20-year period. Demographic, clinical, and operative variables were recorded retrospectively and investigated for predictive value of several postoperative sequelae. A total of 122 SNST cases among 112 patients were included. At a mean follow-up time of 27.7 months, patients with a history of neurofibromatosis type 2 (NF2) (p = 0.014) and those who had undergone a laminectomy of ≥ 4 levels at the time of initial SNST resection (p = 0.028) were more likely to present with some degree of structural abnormality or neurological deficit following their initial surgery. The presence of facetectomy, degree of laminectomy, and level of spinal surgery were not found to be predictors of future instability. Ultimately, there was no significant predictor for true spinal instability following index surgery without fusion. A secondary analysis showed that an entirely extradural location (p = 0.044) and facetectomy at index surgery (p = 0.012) were predictive of fusion being performed at the time of tumor resection. Four of the 112 patients required fusion after their index SNST resection, 3 of whom underwent fusion for instability at the level of the index surgery. No variables were identified as predictive for future instrumentation. Ultimately, the authors conclude that resection of SNSTs does not always necessitate fusion, and good outcomes can be obtained with motion-preserving techniques and minimizing facetectomy when possible. Patients with a history of NF2 and those with SNSTs that required ≥ 4-level laminectomy were more likely to exhibit some degree of structural abnormality and/or neurological deficit localized to the index level defined as either new or worsening spinal instability and/or new or worsening neurological deficit at last follow-up; however, no variable was found to be predictive of true spinal instability. Furthermore, a complete facetectomy at initial SNST resection and entirely extradural tumor location were noted to be associated with fusion at index surgery. Lastly, the authors were unable to identify a clinical predictor for future instrumentation.

Endoscopic extended transforaminal approach (medial subchoroid) as an alternative to the classical transchoroidal approach: Technical note

The extended transforaminal endoscopic approaches allows visualization and manipulation of the middle and posterior third of the III ventricle. In selected cases where the venous anatomy is favorable, the medial subchoroidal approach can be performed as an alternative to the classic transchoroidal approach (via trans-taenia fornicis) with increased protection over the fornix and without the need to sacrifice the septal vein.We present a 14-year-old male with history of Neurofibromatosis type 1 referred for two weeks of clinical evolution with headache, dizziness, gait instability and appearance of a right VI nerve palsy. Magnetic resonance imaging showed obstructive tri-ventricular hydrocephalus due to stenosis of the aqueduct of Sylvius with suspicion of an underlying tumor. An endoscopic surgical procedure was performed through a single approach with III cisternostomy and resection of the tissue that produced the stenosis. The anatomopathological diagnosis showed reactive glial tissue with no signs of malignancy. In conclusion, the medial subchoroidal approach is a plausible alternative in the endoscopic approach to the III ventricle structures in a safe and comfortable manner.

Retinal Dialysis and Associated Rhegmatogenous Retinal Detachment in Patients with Neurofibromatosis Type 1: A Case Series.

While ophthalmic manifestations of neurofibromatosis type 1 (NF1), including iris Lisch nodules and optic gliomas have been well described, retinal involvement in these patients has yet to be established. Characterizing the relationship between NF1 and the retina is necessary to optimize outcomes for these patients. Independent chart review of NF1 patients was conducted. Chart review yielded four patients, with a history of NF1, with subsequent retinal dialysis and rhegmatogenous retinal detachment. These four patients presented to our institution with a rhegmatogenous retinal detachment secondary to a retinal dialysis with no history of trauma. These patients also demonstrated hyperreflective choroidal abnormalities on near-infrared reflectance (NIR) imaging and optical coherence tomography (OCT). Seeing that patients diagnosed with NF1 are susceptible to various ocular manifestations and pathologies, routine ophthalmic examinations are essential in maintaining their ocular health and minimizing morbidity.

Feasibility of extended transforaminal approach (medial subchoroid) for resection of a benign aqueductal tumor in a patient with type 1 neurofibromatosis

The extended transforaminal endoscopic approach allows visualization and manipulation of the third ventricle posterior structures in a safe and comfortable manner. The medial subchoroidal approach has been described as a feasible alternative to the classical transchoroidal approach. In this video, the authors present the case of a 14-year-old male with a history of neurofibromatosis type 1 who was referred to our department after presenting with headaches and diplopia for 2 weeks. Suspecting an aqueduct tumor, the authors performed an endoscopic surgical procedure through a single approach with third cisternostomy and resection of the tumor that produced the stenosis. The video can be found here: https://stream.cadmore.media/r10.3171/2023.1.FOCVID22155.

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, with a birth incidence of approximately 1:2000-3000, caused by germline pathogenic variants in NF1, a tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK pathway. This explains why NF1 is included in the group of RASopathies and shares several clinical features with Noonan syndrome. Here, we describe the main clinical characteristics and complications associated with NF1, particularly those occurring in pediatric age. NF1 has complete penetrance and shows wide inter- and intrafamilial phenotypic variability and age-dependent appearance of manifestations. Clinical presentation and history of NF1 are multisystemic and highly unpredictable, especially in the first years of life when penetrance is still incomplete. In this scenario of extreme phenotypic variability, some genotype-phenotype associations need to be taken into consideration, as they strongly impact on genetic counseling and prognostication of the disease. We provide a synthetic review, based on the most recent literature data, of all known genotype-phenotype correlations from a genetic and clinical perspective. Molecular diagnosis is fundamental for the confirmation of doubtful clinical diagnoses, especially in the light of recently revised diagnostic criteria, and for the early identification of genotypes, albeit few, that correlate with specific phenotypes.

Primary CNS Lymphoma of Diffuse B cells in a Patient with Neurofibromatosis Type 1: A Case Report.

Objective: To describe the case of a patient diagnosed with Neurofibromatosis Type 1 (NF1), who developed her first neoplastic lesion as Primary Central Nervous System Lymphoma (PCNSL). To our knowledge, this is the third case of PCNSL in the context of NF1.
 Background: PCNSL represents 1% of non-Hodgkin extranodal Lymphomas, and 3% of CNS tumors. Diffuse Large B-Cell Lymphoma accounts for 30-40% of the cases, commonly found in the encephalus, spinal cord, leptomeninges, or the eye. Predominant malignant tumors in NF1 are gliomas and Malignant Peripheral Nerve Sheath Tumor (MPNST).
 Methods: A 53-year-old Mexican female, with a history of NF1, arrived at the emergency department with left-side subacute progressive numbness and weakness. Left hemiplegia. MRI showed a ring-enhancing lesion in the right central lobe and a lesion in the subcutaneous tissue. Additionally, the patient underwent a full body 18-FDG PET scan, which reported activity only in the CNS. 
 Results: Lesion-centered craniectomy and surgical evacuation were performed. Histopathological examination revealed lymphoid lineage cells, CD20, PAX-5, and Ki-67 were positive for neoplastic cells, confirming the diagnosis of PCNSL. At the 6-months follow-up visit, strength improved significantly, and the follow-up MRI did not show residual mass. 
 Conclusions: It is necessary to study the prevalence of LPSNC in these patients, as well as the relative risk, and to develop guidelines for its best approach. We believe that the real incidence of the disease is underestimated, since the genetic and pathophysiological mechanisms that promote its origin still need to be clarified.

Primary CNS Lymphoma of Diffuse B cells in a Patient with Neurofibromatosis Type 1: A Case Report.

Objective: To describe the case of a patient diagnosed with Neurofibromatosis Type 1 (NF1), who developed her first neoplastic lesion as Primary Central Nervous System Lymphoma (PCNSL). To our knowledge, this is the third case of PCNSL in the context of NF1.
 Background: PCNSL represents 1% of non-Hodgkin extranodal Lymphomas, and 3% of CNS tumors. Diffuse Large B-Cell Lymphoma accounts for 30-40% of the cases, commonly found in the encephalus, spinal cord, leptomeninges, or the eye. Predominant malignant tumors in NF1 are gliomas and Malignant Peripheral Nerve Sheath Tumor (MPNST).
 Methods: A 53-year-old Mexican female, with a history of NF1, arrived at the emergency department with left-side subacute progressive numbness and weakness. Left hemiplegia. MRI showed a ring-enhancing lesion in the right central lobe and a lesion in the subcutaneous tissue. Additionally, the patient underwent a full body 18-FDG PET scan, which reported activity only in the CNS. 
 Results: Lesion-centered craniectomy and surgical evacuation were performed. Histopathological examination revealed lymphoid lineage cells, CD20, PAX-5, and Ki-67 were positive for neoplastic cells, confirming the diagnosis of PCNSL. At the 6-months follow-up visit, strength improved significantly, and the follow-up MRI did not show residual mass. 
 Conclusions: It is necessary to study the prevalence of LPSNC in these patients, as well as the relative risk, and to develop guidelines for its best approach. We believe that the real incidence of the disease is underestimated, since the genetic and pathophysiological mechanisms that promote its origin still need to be clarified.

Oral Lipomatous Neurofibroma: A report of two cases and a review of the literature

Neurofibroma is a benign tumor that originates from the peripheral nerve sheath. This lesion may assume multiple growth patterns and various histologic variants have been described in the literature. We present two cases of lipomatous neurofibroma, a rare variant in the oral cavity. This variant is typically seen as a cutaneous lesion predominately located in the head and neck. Case 1 was a 62-year-old female who presented with a mass of her left posterior palate. Case 2 presented as a submucosal dorsal tongue mass in an 18-year-old male. Both lesions appeared clinically benign. Neither patient had a known history of neurofibromatosis type 1. The biopsies from case 1 and case 2 showed similar histopathological features. These two lesions were well delineated submucosal tumors characterized by an admixture of spindled neural cells and mature adipocytes. The mature adipocytes were separate from the regional adipose tissue. The spindle cells contained serpentine nuclei set in a wavy well-vascularized fibrillar stroma. The immunohistochemical staining for both lesions revealed S100 positivity of the tumor cells and negative staining for CD99, CD34, and BCL2. Differential diagnosis for these tumors included solitary fibrous tumor and spindle cell lipoma. However, based on the lack of a hemangiopericytoma-like vascular pattern, wire-like collagen and the pattern of IHC staining, these entities were excluded. While the diagnosis of a conventional neurofibroma is straightforward, the diagnosis of a lipomatous neurofibroma may be more challenging. Neither of our patients had a known history of Neurofibromatosis type 1 (NF1); however, cutaneous lipomatous neurofibromas have been associated with NF1. Therefore, a patient with a diagnosis of lipomatous neurofibroma should have a medical work-up to exclude this syndrome. With the presentation of two cases of lipomatous neurofibroma arising intraorally, we hope to raise awareness of this distinct and rare morphologic subtype of neurofibroma.

Recurrent malignant peripheral nerve sheath tumor presenting as an asymptomatic intravenous thrombus extending to the heart: a case report

BackgroundMalignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma mainly treated via surgical resection. Herein, we report a case of MPNST wherein a massive tumor thrombus extended to the major veins and heart.Case presentationA 39-year-old female with a history of neurofibromatosis type 1 developed MPNST from the right radial nerve. In addition to adjuvant chemotherapy, she underwent wide tumor resection and concomitant radial nerve resection, followed by postoperative radiotherapy. Histological evaluation revealed marked venous invasion. The 2-year follow-up CT revealed an asymptomatic recurrent tumor thrombus extending from the right subclavian vein to the heart. An urgent life-saving operation was performed to ligate the base of the right subclavian vein and remove the entire intravenous thrombus that extended to the right ventricle. The remaining tumor in the right subclavian vein increased in size 3 months after thrombectomy. After confirming the absence of any metastatic lesions, the patient underwent extended forequarter amputation to achieve surgical remission. One year later, a new metastasis to the right diaphragm was safely resected. The patient remains alive without any evidence of disease 2 years after the extended forequarter amputation.ConclusionsIn cases of a previous history of microscopic venous invasion, recurrence can occur as a massive tumor thrombus that extends to the great vessels.

Neurofibromatosis Type 1: About a Series of 5 Cases

We report in this series 5 cases of neurofibromatosis type 1 (NF1). The mean age of the patients was 14.8 years (±9.65) with extremes ranging from 3 to 27 years. Three patients were female (60%) and two were male (40%). Three of our patients (60%) had no history of NF1 and two were monophthalmic because of plexiform neurofibromas involving the eyelid. Both cutaneous and plexiform neurofibromas were found in all our patients. The latter were of variable location: one on the chin, two on the left temporofacial region and two on the left upper eyelid. They were the cause of complications such as blindness in two patients. Café au lait macule (CALMs) was also present in all our patients. No cases of optic nerve glioma were found in the 3 patients (60%) who underwent an orbitocerebral CT scan. Lish nodules were observed in 4 patients (80%). With the exception of the 3-year-old female patient who was not old enough to go to school, all the other four patients dropped out of school because of the stigma attached to them.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Individuals with the three base pair deletion NM_000267.3(NF1):c.2970_2972del p.(Met992del) have been recognised to present with a milder neurofibromatosis type 1 (NF1) phenotype characterised by café-au-lait macules (CALs) and intertriginous freckling, as well as a lack of cutaneous, subcutaneous and plexiform neurofibromas and other NF1-associated complications. Examining large cohorts of patients over time with this specific genotype is important to confirm the presentation and associated risks of this variant across the lifespan. Forty-one individuals with the in-frame NF1 deletion p.Met992del were identified from 31 families. Clinicians completed a standardised clinical questionnaire for each patient and the resulting data were collated and compared to published cohorts. Thirteen patients have been previously reported, and updated clinical information has been obtained for these individuals. Both CALs and intertriginous freckling were present in the majority of individuals (26/41, 63%) and the only confirmed features in 11 (27%). 34/41 (83%) of the cohort met NIH diagnostic criteria. There was a notable absence of all NF1-associated tumour types (neurofibroma and glioma). Neurofibroma were observed in only one individual—a subcutaneous lesion (confirmed histologically). Nineteen individuals were described as having a learning disability (46%). This study confirms that individuals with p.Met992del display a mild tumoural phenotype compared to those with ‘classical’, clinically diagnosed NF1, and this appears to be the case longitudinally through time as well as at presentation. Learning difficulties, however, appear to affect a significant proportion of NF1 subjects with this phenotype. Knowledge of this genotype–phenotype association is fundamental to accurate prognostication for families and caregivers.

CENTRAL GIANT CELL GRANULOMA IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1

<h3>BACKGROUND</h3> Neurofibromatosis type 1 (NF1) is an autosomal dominant, inherited, multisystemic disease caused by a mutation in the NF1 gene. A second mutation in this gene can lead to central giant cell granulomas (CGCGs) in the jaws of patients with NF1. In this case, we describe a patient with NF1 and the presence of a CGCG in the mandible. <h3>CASE REPORT</h3> A 24-year-old female patient with relevant medical/dental history of attention deficit hyperactivity disorder, developmental delay, hypothyroidism, congenital heart defect, NF1, and multiple missing teeth presented to the University of Florida College of Dentistry for implant evaluation. A cone beam computed tomography scan was performed where root resorption on tooth 11 was noted and a well-defined, multiloculated, radiolucent entity in the left parasymphyseal region was seen. This entity extended from tooth 20 beyond the midline and from the alveolar crest to the inferior third of the mandible. The alveolar crest and the buccal cortex were mainly resorbed. The root of tooth 21 was distally displaced without evidence of root resorption. The surrounding bone was sclerotic. A thin septum dividing the lesion from the left mental foramen was noted. Given the radiographic appearance and the history of NF1, a CGCG and neurofibroma were considered as differential diagnoses. Histopathologic evaluation was recommended. <h3>DISCUSSION/CONCLUSIONS</h3> A biopsy confirmed the lesion to be a CGCG. The treatment options suggested by the oral surgeon were (1) nonsurgical: Intralesional injection of corticosteroid or (2) surgical: Enucleation and Curettage (E&C) with likely mandibular resection. Owing to concerns regarding anesthesia, a nonsurgical approach was chosen. The relationship between CGCG and NF1 is rarely seen but is well described in the literature and should be considered as a differential diagnosis in patients with NF1 and tumor-like lesions in the jaws. Intralesional injection of corticosteroids has shown good efficiency in complete remission of CGCGs or substantial shrinkage of the lesion, avoiding large surgical resections.

Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report

BackgroundNeurofibromatosis type 1 causes various lesions in many organs including the skin, and the incidence of complications with intracranial aneurysms is 9–11%. Here we report a case of neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms.Case presentationThe patient was a 49-year-old Japanese woman with a history of neurofibromatosis type 1. She was transported to our hospital owing to disturbance of consciousness and was diagnosed with subarachnoid hemorrhage by computed tomography. Computed tomography angiography revealed multiple, small intracranial aneurysms, and we suspected that one of them in the peripheral branch of the left middle cerebral artery was the source of hemorrhage based on the distribution of hematoma. The patient underwent emergency surgery. Because it was difficult to identify an aneurysm in the most peripheral part of the left middle cerebral artery in the initial surgery, only one aneurysm was clipped. Later, a peripheral aneurysm was clipped using the navigation system. Because both aneurysms were small intracranial aneurysms (< 2 mm), either of them could be the source of hemorrhage. The postoperative course was good, and the patient was discharged in healthy condition. Because brain magnetic resonance imaging performed in the previous year did not find aneurysms at the same site, she was diagnosed with rupture of a de novo aneurysm. Neurofibromatosis type 1 might have caused the rupture of multiple intracranial aneurysms in a short period in this patient.ConclusionNeurofibromatosis type 1 may be complicated by the formation of multiple intracranial aneurysms in a short period.

Cerebellar anaplastic astrocytoma in adult patients: 15 consecutive cases from a single institution and literature review

Adult cerebellar anaplastic astrocytomas (cAA) are rare entities and their clinical and genetic appearances are still ill defined. Previously, malignant gliomas of the cerebellum were combined and reviewed together (cAA and cerebellar glioblastomas (cGB), that could have possibly affected overall survival (OS) and progression-free survival (PFS). We present characteristics of 15 adult patients with cAA and compared them to a series of 45 patients with a supratentorial AA (sAA) in order to elicit the effect of tumor location on OS and PFS. The mean age at cAA diagnosis was 39.3 years (range 19–72). A history of neurofibromatosis type I was noted in 1 patient (6.7%). An IDH-1 mutation was identified in 6/15 cases and a methylated MGMT promoter in 5/15 cases. Patients in study and control groups were matched in age, sex and IDH-1 mutation status. Patients in a study group tended to present with longer overall survival (50 vs. 36.5 months), but the difference did not reach statistical significance. In both cAA and supratentorial AA groups presence of the IDH-1 mutation remains a positive predictor for the prolonged survival. The present study suggests that adult cAA constitute a group of gliomas with relatively higher rate of IDH-1 mutations and prognosis similar to supratentorial AA. The present study is the first to systematically compare cAA and supratentorial AA with respect to their genetic characteristics and suggests that both groups show a similar survival prognosis.

RARE-11. PRIMARY INTRACRANIAL LEIOMYOSARCOMA IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1

Primary intracranial leiomyosarcoma (LMS) is very rare, with only a few reported cases. Only one prior case report of intracranial LMS in a patient with neurofibromatosis type 1 (NF1) was identified. We report a case of primary intracranial LMS in a patient with known history of NF1. Our patient is a 17-years-old female without history of immunocompromise presenting with severe headaches representative of right frontal hemorrhagic tumor found to be primary intracranial LMS. In prior reported cases, most primary intracranial LMS were treated with sarcoma-based chemotherapy and radiation therapy. Our patient underwent multiple resections, as well as focal radiation. Her chemotherapy initially included ifosfamide, carboplatin, and etoposide, but when she failed etoposide twice due to severe allergic reactions, she completed treatment successfully with the combination of ifosfamide and doxorubicin. She continues to be doing well with no evidence of disease at 41 months post-treatment.

A Complicated Maternal Death in the context of Genetic Disorder: A Case Report

Background: Investigation of the maternal cause of death and pregnancy-related death is one of the most important responsibilities of a forensic pathologist. From the public health point of view, it may help to prevent losses during and following pregnancy and save the lives of women, especially in developing countries. Methods: We report a case of maternal death with a history of neurofibromatosis type 1 who presented asymptomatic and normotensive with normal laboratory test results. Results: The first attack after delivery was associated with pulmonary edema, which led to death. Investigation during the medico-legal autopsy discovered a left suprarenal tumor with the diagnosis of pheochromocytoma, which was confirmed by further histopathology testing. Conclusion: We believe that although the association of neurofibromatosis type 1 and normotensive pheochromocytoma during pregnancy has been reported rarely, the possibility must be considered for evaluation before elective operations to adopt proper preoperative protocols.