Mixed Histocytosis Manifesting as Suprasellar Mass with Aortic Involvement

Introduction: Histiocytoses are a group heterogeneous diseases of unknown cause affecting myeloid progenitor cells. Erdheim-Chester disease (ECD) is a subclassification of Non-Langerhan cell Histiocytosis (LCH). ECD has characteristic lesions of the skeletal, cardiac, and vascular systems. There are many instances when LCH and ECD occurs concurrently, called mixed Histiocytosis. Fewer than 500 cases of ECD have been reported and even fewer of mixed histiocytosis. Case: 42 year old caucasian female presented after a syncopal event, status post tenosynovitis release surgery. Patient presented with pallor and hypotension upon arrival, prompting a syncope workup. Patient admitted long standing history of claudication, fever, and weight loss.Labs yielded a WBC of 10.5 ESR of 67, and CRP of 2.3. Initial CTA to rule out PE revealed inflammation of the aorta and left subclavian vessel with mural thickening of descending aortic arc. CTA also showed stenosis of the celiac, superior mesenteric, and renal arteries, suspicious of Takayasu arteritis. Subsequent CT and MRI exhibited a suprasellar mass which was later resected and biopsied diagnosed as BRAF positive Langerhans Cell Histiocytosis, staining positive for CD1a, S-100, Langerin, CD68 and CD168. Discussion: The BRAFv600e gene mutation is implicated in both LCH and ECD, suggesting a common origin. After discovery of the BRAF mutation on both LCH and ECD, a study reported significant co-occurrence between the two, including 19% of the largest ECD cohort. Recognizing LCH, ECD, and mixed histiocytosis is imperative as treatment regiments regimens differ. Thus, actively considering mixed histiocytoses is important in the setting of LCH diagnosis.https://scholarlycommons.henryford.com/merf2019caserpt/1104/thumbnail.jp

Factor VIII Eradication in Acquired Hemophilia A

Acquired Hemophilia A manifests as an autoimmune condition characterized by spontaneous synthesis of IgG against Factor VIII (FVIII) occurring in 1 in 1,500,000 cases annually with an approximate 9-22% mortality1,2.A 72-year-old-male with recent hospitalization from ESBL UTI and DVT, returned to the hospital with weakness, fatigue, exertional dyspnea and diffuse ecchymosis while on Xarelto. Admission labs revealed an elevated PTT without prior personal or family history of coagulopathy. Subsequent testing exhibited non-corrective PTT mixing study of 199s, preliminary FVIII activity of 0.26% and FVIII inhibitor level of 112.0 Bestheda units (BU).Patient was treated with prednisone 1mg/kg and Cyclophosphamide 2mg/kg daily. With minimal change of FVIII activity/inhibitor levels after seven days, cyclophosphamide was subsequently increased to 3mg/kg daily; 800mg Rituximab weekly for four weeks and adjuvant IVIG 1g/kg for two days were added. While FVIII inhibitor levels decreased promptly after giving Rituximab, FVIII activity remained relatively stagnant throughout the treatment course until the inhibitor level breached 10BU. The FVIII inhibitor decreased from 112 to 1.6BU, FVIII activity increased from 0.26% to 17%, and PTT decreased from 199s to 38s over 35 days.Cyclophosphamide and steroids were insufficient, and Rituximab and IVIG were supplemented in the treatment regimen. The patient\u27s levels improved only after the initiation of Rituximab and IVIG. Given this, further research should be conducted in the use of Rituximab and IVIG for the treatment of acquired Hemophilia A with Factor VIII inhibitor.https://scholarlycommons.henryford.com/merf2019caserpt/1106/thumbnail.jp

Giant Pericardial Lipoma Inducing Cardiac Tamponade and New Onset Atrial Flutter

Although pericardial lipomas are both rare and benign, rapid or excessive growth can induce potentially fatal conditions such as pericarditis, arrhythmia, and cardiac tamponade. This case illustrates an example where a 65-year-old with atypical chest tightness unveiled a 10 × 15 cm anterior pericardial mass with circumferential effusion and progressive deterioration to cardiac tamponade. Initial transthoracic echocardiogram imaging was technically difficult in this patient due to habitus and body mass, which failed to illustrate underlying effusion. Recurrent bouts of refractory supraventricular tachycardia prompted further investigation of this patient\u27s presentation with transesophageal echocardiogram, which showed evidence of an echogenic mass with cardiac tamponade. An urgent pericardial window and pericardial lipectomy immediately relieved this hemodynamically compromising condition. Subsequent atrial flutter resulted with the removal of the anterior fat pad during surgery, complicating recovery

Collision Tumor in the Pituitary, Concurrent Pituitary Adenoma, and Craniopharyngioma

Collision tumors are two independent, distinct tumors occupying the same anatomical space. This case presents a pituitary adenoma-craniopharyngioma collision tumor presenting with hemianopsia. A 60-year-old with a past history of a nonsecretory pituitary adenoma presented with progressive headaches, bitemporal hemianopsia, and nausea. Previously, in 2008, his adenoma was effectively treated with nasal septal flap and transsphenoidal pituitary resection. A magnetic resonance imaging (MRI) was ordered for concern of recurrence, given his history and neurologic complaints. The MRI revealed a suprasellar mass extending into the third ventricle with displacement of the hypothalamus and optic chiasm. Laboratory testing revealed no indicators of endocrinopathy. The neurosurgical and otolaryngologic teams were elected to perform tumor resection given the ongoing symptoms. An image-guided transsphenoidal tumor resection with abdominal fat graft harvest and septal mucosal flap CSF leak repair was performed. Histopathological examination revealed two tumor components within the resection including an adamantinomatous craniopharyngioma and recurrent pituitary adenoma

Early Disseminated Lyme Carditis Inducing High-Degree Atrioventricular Block

Lyme disease is the most common tick-borne illness in the United States due to Borrelia burgdorferi infection. This case demonstrates a 20-year-old male patient presenting with complaints of annular skin rash, malaise, fever, and lightheadedness after significant outdoor exposure. Physical exam revealed multiple large targetoid lesions on the back and extremities. The rash had raised borders and centralized clearing consistent with erythema migrans chronicum. Electrocardiogram (ECG) revealed a high-degree atrioventricular (AV) block. The patient was started on intravenous ceftriaxone due to clinical suspicion for Lyme carditis. ELISA and Western blot tests were reactive for Lyme IgM and IgG, confirming the diagnosis. The AV block resolved by hospital day four and the patient was discharged with outpatient follow-up. Early identification of disease allowed for effective treatment with no adverse outcomes or sequelae