Intracranial Solitary Fibrous Tumor: A Case of a 21-Year-Old Male With Olfactory Hallucination.

Meningeal solitary fibrous tumors (SFTs) are a rare central nervous system neoplastic process, resulting in frequent misdiagnosis as meningioma prior to pathologic analysis. Appropriate diagnosis is essential to lowering morbidity and mortality, as Grade II or III SFTs are aggressive neoplasms that possess metastatic potential. The existing data may suggest that intracranial SFTs primarily afflict those in their fourth through sixth decades of life. However, we present the case of a patient outside this demographic presenting with symptoms that we were unable to identify in any prior reports. A 21-year-old male in the United States Navy presented to the emergency department (ED) with a two-month history of progressive headaches, leading to nausea and emesis. The patient also endorsed a daily incidence of the same olfactory hallucination followed by several minutes of palpitations, flushing, and dizziness. His neurologic exam was unremarkable, but imaging in the ED revealed a large mass abutting the right medial sphenoid wing. The radiographic appearance of the mass with a dural tail led to a preoperative diagnosis of meningioma. However, pathologic analysis following gross total resection identified the mass as an SFT. A brief literature review complementary to this case underscored the high variability of intracranial SFT case presentations with a relative scarcity of epidemiologic data due to rarity. This review identified that it was common to initially diagnose SFTs as meningioma, similar to this particular case. This emphasizes the importance of an appropriate pathologic diagnosis. This case adds to the existing literature as anecdotal evidence of SFT occurring in a young patient and a unique symptom profile most notable for olfactory hallucination and dysautonomia as features of focal seizure.

Large saccular intracranial aneurysm in a child with RASA1-associated capillary malformation-arteriovenous malformation syndrome: illustrative case.

BACKGROUND: Large cerebral aneurysms are much less common in children than in adults. Thus, when present, these lesions require careful surgical evaluation and comprehensive genetic testing. RASA1-associated capillary malformation-arteriovenous malformation (RASA1-CM-AVM) syndrome is a rare disorder of angiogenic remodeling known to cause port-wine stains and arteriovenous fistulas but not previously associated with pediatric aneurysms. OBSERVATIONS: The authors report the case of a previously healthy 6-year-old boy who presented with seizure-like activity. Imaging demonstrated a lesion in the right ambient cistern with compression of the temporal lobe. Imaging characteristics were suggestive of a thrombosed aneurysm versus an epidermoid cyst. The patient underwent craniotomy, revealing a large saccular aneurysm, and clip ligation and excision were performed. Postoperative genetic analysis revealed a RASA1-CM-AVM syndrome. LESSONS: This is a rare case of a RASA1-associated pediatric cerebral aneurysm in the neurosurgical literature. This unique case highlights the need for maintaining a broad differential diagnosis as well as the utility of genetic testing for detecting underlying genetic syndromes in young children presenting with cerebral aneurysms.

A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case.

Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0-2% versus 0.0206%, spina bifida 1-3% versus 0.0350%, and encephalocele 0-2% versus 0.0082% [Parker et al. (2010); Birth Defects Research. Part A: Clinical and Molecular Teratology, 88:1008-1016; Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. We report the third published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts.

Pleomorphic rhabdomyosarcoma presenting as a hypopharyngeal mass.

BACKGROUND: Rhabdomyosarcoma (RMS) is a rare malignancy derived from skeletal muscle with approximately 40% of cases involving the head and neck. The pleomorphic variant, however, most commonly occurs in the extremities and has never, to our knowledge, been described in the pharynx. METHODS: A 46-year-old man with no significant medical history presented to the emergency department complaining of hemoptysis. A CT scan of the head and neck revealed a hypopharyngeal mass originally favored to be a benign process. RESULTS: Operative endoscopy revealed a previously unseen mucosal ulceration, and subsequent biopsy resulted in the final diagnosis of pleomorphic RMS. CONCLUSION: Although quite rare, RMS should be considered in the differential diagnosis of a hypopharyngeal mass.

Fasciotomy worsens the amount of myonecrosis in a porcine model of crotaline envenomation.

STUDY OBJECTIVE: We evaluate the efficacy of fasciotomy or crotaline snake antivenom in reducing myonecrosis. METHODS: We used a randomized, blinded, controlled acute animal preparation. Twenty anesthetized swine were injected intramuscularly in the anterior tibiales muscle of both hind limbs with 6 mg/kg of Crotalus atrox venom (total of 12 mg/kg of venom per animal). Immediately after venom injection, the right hind limb underwent fasciotomy. Muscle biopsies were obtained from the fasciotomized hind limb at 0, 4, and 8 hours and from the other hind limb at the conclusion of the study (8 hours). In addition, animals received either 8 vials of reconstituted Crotalidae polyvalent immune Fab (ovine) (CroFab; FabAV) or an equal volume of normal saline solution intravenously 1 hour after venom injection. A pathologist blinded to the study determined the percentage of myonecrotic cells in each biopsy. Statistical analysis was performed using repeated measures analysis of variance for compartment pressure. Rank-order methods were used for comparison of myonecrosis between groups. RESULTS: Biopsies from hind limbs undergoing fasciotomy revealed a progressive increase in the amount of myonecrosis over time (myonecrosis median at 0, 4, or 8 hours [or death]: 0%, 14%, or 14.5%, respectively; P<.001). Comparison of the amount of myonecrosis of biopsies at death or 8 hours revealed that limbs that underwent fasciotomy had significantly more myonecrosis than those that did not (myonecrosis median: 14.5% versus 2.5%, P=.048). No difference was detected in the amount of myonecrosis when FabAV was compared with normal saline solution on final biopsies from either fasciotomy or nonfasciotomy hind limb (myonecrosis median: 10.0% versus 10.0%, P=.64). CONCLUSION: Fasciotomy significantly worsens the amount of myonecrosis in a porcine model of intramuscular crotaline venom injection. No change in the amount of myonecrosis was detected with the use of FabAV treatment at the dosages used in this animal model.