An Unusual Combination of Arthrogryposis, Gastroschisis, Cecal Volvulus, and Malignant Hyperthermia in a Young Woman: A Case Report.

BACKGROUND The purpose of this study is to discuss a patient with a history of conditions, including arthrogryposis, gastroschisis, and malignant hyperthermia, who presented with cecal volvulus requiring urgent surgical intervention. CASE REPORT A 29-year-old woman with a history of arthrogryposis, gastroschisis, malignant hyperthermia, and multiple childhood abdominal surgeries presents to the Emergency Department (ED) with 2 days of abdominal pain and bloody diarrhea. A CT abdomen/pelvis revealed findings concerning for a cecal volvulus. The patient was premedicated and monitored closely by the anesthesia team due to her history of malignant hyperthermia. She underwent an exploratory laparotomy, where a dilated cecum and proximal ascending colon were found to be completely volvulized around the mesentery. Manual bowel detorsion was performed, which resulted in reperfusion of the ischemic-appearing bowel, which then appeared viable. She recovered well after the procedure and was discharged on postoperative day 5. CONCLUSIONS This case highlights a patient who presented with a combination of 4 findings: arthrogryposis, gastroschisis, malignant hyperthermia, and cecal volvulus. With arthrogryposis reported to be associated with gastroschisis and malignant hyperthermia, this report not only corroborates this association, but also aims to draw attention to the fact that these conditions have potential to occur jointly with cecal volvulus. Given the patient's history of gastroschisis requiring extensive abdominal surgeries that contribute as risk factors for cecal volvulus, it is possible there may be other arthrogryposis patients who present with cecal volvulus similar to that seen in this patient.

A Rare Case of Balo Concentric Sclerosis, a Subtype of Tumefactive Multiple Sclerosis, in a 40-Year-Old Male: Case Report.

Balo concentric sclerosis (BCS) is a rare sub-variant of multiple sclerosis (MS), a demyelinating disease affecting the CNS. BCS is considered a disease of the brain's white matter with a characteristic tumefactive ring signified with alternating myelinated and demyelinated layers, which gives it an "onion-ring" appearance. Our patient is a 40-year-old male with a past medical history (PMH) of human papillomavirus (HPV) who presented to the hospital with acute onset of progressive horizontal diplopia in the left eye and mild right-sided facial weakness and sensation of heaviness in the head. After ruling out stroke, the patient's clinical presentation prompted further investigation with MRI, MR spectroscopy, and an oligoclonal bands' panel. MRI imaging showed a concentric bullseye area of T1 low signal intensity in the left parietal lobe with surrounding edema vasogenic ring enhancement. MR spectroscopy showed a sequence of incomplete ring-enhancing lesions demonstrating a lactate peak and increased choline. The oligoclonal bands' panel, which revealed negative oligoclonal bands, had elevated IgG in the CSF. The patient was diagnosed with BCS based on the clinical presentation, MRI, MR spectroscopy, and oligoclonal bands' panel findings. The patient was started on high doses of methylprednisolone, which improved his symptoms within 24-48 hours of the initial dose.

Metastatic Clivus Chordoma: A Case of a Rare Tumor in a 29-Year-Old African American Male.

In this study, we report a case of a late-stage clival chordoma in a 29-year-old African American male and the unfortunate linear progression course since his initial diagnosis. Upon his initial encounter in 2020, radiation therapy did not offer any promising curative outcome. He was initially treated with a combination treatment of partial resection, radiation, and proposed oral imatinib, none of which modified the natural history and progression of his illness. Instead, these methods were performed as palliative measures to reduce the current size of the tumors and decrease growth rates to minimize his pain. Social issues acted as a contributory risk factor in his prognosis and due to the patient's socioeconomic barriers, he was not able to continue seeking available radiotherapy, leading to disease exacerbation. Poor adherence was noted with his follow-up. The risks of being affected by this disease are likely multifactorial and more reports of such cases need to be added to bridge this gap in the current literature. In addition, there is a gap in the current study of reports of such tumors found in diverse racial groups and in patients who are in their first few decades of life. Novel treatment strategies were reviewed, and it is expected they could generate assertive treatment guidelines.