United States

Background

Adenocarcinoma of the lung has shown an increasing incidence, but Pulmonary mucinous adenocarcinoma, a variant of invasive adenocarcinoma, remains a rare entity with non-specific clinical manifestations. Invasive mucinous adenocarcinoma (IMA) accounts for 5 % of pulmonary adenocarcinoma. IMA exhibits distinct characteristics, including invasive patterns characterized by either columnar or goblet cells. Because of its unique clinical characteristics, such as its peripheral location and a high incidence of multifocal, multi-lobular, and bilateral presence, it has been recognized as a distinct entity. 

Case Presentation

A 69-year-old male patient with a known history of interstitial lung disease presented with a gradual onset chronic nonproductive cough with exercise intolerance on exertion, which significantly worsened over the past six months. Two bronchoscopies with transbronchial biopsy and bronchoalveolar lavage in the past year failed to give any diagnosis. A recent scan, one month ago revealed worsening of bilateral infiltrates on CT from the previous scans; along with interstitial thickening, mosaic attenuation, and a new cavitary lung lesion with a left lobe atelectatis, and necrotic lung tissue. Cell count at that time did not show eosinophilia. The patient had no exposure to asbestos, chemicals, fumes, dust, silica, or mold nor weight loss. Antinuclear antibody and Antineutrophilic-cytoplasmic-antibody were negative. Due to travel history to southeast Asia and South America, workup for Mycobacterium Tuberculosis , Histoplasma , Blastomyces , and Aspergillus was done which came negative. A wedge biopsy of the left lung revealed involvement morphologically similar to adenocarcinoma with mucinous features which were characterized by atypical mucinous tumor cells. These findings can be found in IMA However, the adenocarcinoma had atypical features and presented as a diffuse and multifocal distribution, which is uncommon for this type of tumor. 

Discussion
Common symptoms observed in individuals with IMA include nonspecific manifestations such as sputum production, cough, shortness of breath, and fever but our patient presented with a chronic nonproductive cough and dyspnea on exertion, without other symptoms. Diffuse, right upper lobe involvement was present instead of the typical peripheral lower lobe, predominance in IMA. Surgical lung biopsy and CT-guided percutaneous lung biopsy have been known to achieve a diagnostic yield of 100%. However, it is worth noting that biopsied specimens obtained through this approach may primarily consist of acellular mucin pools. A multidisciplinary approach should be adopted to address respiratory symptoms, facilitate the use of anticancer drugs, and extend patient survival while carefully weighing the risks and benefits of surgery.

AMA Research Challenge 2023

Hidden in Plain Sight: A Unique Presentation of Lung Adenocarcinoma

poster

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Background
Described in 1770, Bouveret’s syndrome is rare and characterized by gastric outlet obstruction caused by gallstone-driven fistulization between the gallbladder and the stomach or duodenum, accounting for 1-3% of gallstone ileus. Women with a mean age of 71 years are the primary demographic. 91% undergo surgical intervention for obstruction relief. Mortality ranges from 12-27%, with morbidity reaching 50%. We present a case of Bouveret’s syndrome with gallstone migration to the jejunum resulting in gallstone ileus, with the benefit of multiple imaging modalities. 

Case Presentation
A 54-year-old female presented with 4-day history of right upper quadrant abdominal pain. Ultrasound (US) elicited sonographic Murphy’s sign and showed gallbladder wall thickening and a gallstone. Subsequent computed tomography (CT) with contrast demonstrated cholecystitis, pneumobilia, and a cholecytoduodenal fistula. A large radiolucent gallstone was impacted in the duodenum resulting in gastric outlet obstruction. 

On hospital day 2, she developed vomiting with abdominal distension and a nasogastric tube provided relief. Abdominal radiographs showed new small bowel dilation concerning for small bowel obstruction (SBO). Magnetic resonance imaging (MRI) the following day redemonstrated cholecystitis and cholecystoduodenal fistula. Importantly, it also showed a new proximal SBO, with transition point in the jejunum, which was secondary to interval migration of the gallstone from duodenum to jejunum. 

Exploratory laparotomy was performed on hospital day 5 and a 5 cm cholelith was removed from the jejunum, relieving the obstruction. The patient tolerated the procedure well. She was discharged the following day and was stable at follow up. 

Discussion
This case illustrates the uncommon diagnosis of Bouveret’s syndrome with subsequent gallstone migration into the jejunum resulting in gallstone ileus with the benefit of US, CT, XR, and MRI imaging modalities. There is an average of 7 days from symptom onset to surgery, with 9 days for this patient. As mortality and morbidity rates are high, early diagnosis of Bouveret’s syndrome is crucial, which can be challenging due to its non-specific presentation of abdominal pain and vomiting, and because gallstones are frequently radiolucent making them difficult to detect on CT. The classic Rigler’s triad (ectopic gallstone, pneumobilia, and SBO) associated with gallstone ileus is not always visualized on imaging. CT is the most accurate imaging test for diagnosis of Bouveret’s syndrome and is therefore the imaging test of choice, although US and MRI can be very helpful adjunct to aid in detecting radiolucent gallstones, as in this case.

Multiple Imaging Modalities of Bouveret's Syndrome with Further Gallstone Migration

Background: Primary aldosteronism is the most common cause of secondary hypertension. In patients with primary aldosteronism, CT imaging and adrenal vein sampling (AVS), a minimally invasive procedure, are common workups to determine lateralization of hormone production prior to adrenalectomy. This is an important distinction as the management varies based upon a unilateral versus bilateral nature as well as a realization that imaging alone may lead to inappropriate adrenalectomy. 

Case: Patient is a 66-year-old male diagnosed with primary aldosteronism after presenting with poorly controlled hypertension and persistent hypokalemia despite being on five antihypertensive medications and potassium supplementation. CT abdomen showed a 2 cm left sided adrenal nodule. He was referred to interventional radiology for AVS. Cosyntropin infusion was used to stimulate hormone production prior to sampling. Venous samples were collected from the left adrenal vein, right adrenal vein and IVC. Samples at each site were tested for cortisol and aldosterone levels. Lateralization index of right adrenal vein samples was 5.5, indicating right sided hypersecretion, discordant from the CT findings of a left sided nodule that was presumed to be the source of aldosteronism. Based on the AVS results, the patient instead underwent right sided adrenalectomy. Since surgery, his potassium has normalized without the need for supplementation and he is weaning off antihypertensive medications. 

Conclusion: Discrepancies in imaging and adrenal vein sampling, as described in this case, are common, therefore, patients with primary aldosteronism should undergo AVS to determine lateralization to guide further surgical or medical treatments. While CT has benefits, such as allowing assessment of nodules or masses that may be present as well as visualization of vascular anatomy, surgical intervention should not solely rely on imaging findings. 


Discordance Between Imaging and Adrenal Vein Sampling in Patient with Primary Aldosteronism


Persistent sciatic artery is a rare congenital malformation, with an incidence under 0.04%. The sciatic artery is a branch of the internal iliac artery, supplying the lower limb in the early embryonic stage. Normally, the sciatic artery involutes, while the superficial femoral artery becomes the major blood supply of the lower extremity. However, the absence of femoral artery development leads to the sciatic artery becoming the dominant blood supply.
Uterine artery embolization is widely used, has minimal morbidity and high technical success rates. However; in the few reported cases of patients undergoing Uterine artery embolization where a persistent sciatic artery wasn’t recognized, there was non-targeted embolization and failure to embolize the uterine artery. 
In the patient’s case, the uterine artery bifurcates off the persistent sciatic artery and is crucial to identify in order to properly conduct the uterine artery embolization. If this vascular variant was not properly identified it is possible that non-targeted embolization could have occurred leading to catastrophic consequences.



Uterine Artery Embolization in a Patient with a Persistent Sciatic Artery

Background: Mammary Paget’s Disease (MPD) of the nipple-areolar complex (NAC) is a rare disorder of the breast associated with an underlying carcinoma affecting 1-4% of breast cancer patients. The etiology of MPD is thought to arise from a malignant conversion of pluripotent keratinocyte stem cells or cells of apocrine gland ducts; that is supported by structural similarity between Paget and Toker cells – epithelial cells found in the NAC of 10% of women. MPD presents as eczematous patches of scaly tissue surrounding the NAC associated with tingling and pruritis. 

Case Presentation: Here we describe a 74-year-old patient with local recurrence of breast cancer >20 years following treatment. She initially presented with a right breast stage IA (cT1cN0M0) invasive ductal carcinoma involving right upper inner quadrant in year 2000. She was treated with partial mastectomy (PM) and sentinel lymph node biopsy (SLNB) followed by adjuvant whole breast radiation therapy and 2.5 years of adjuvant tamoxifen. She remained disease free until year 2022 when she presented with waxing and waning four-month history of skin irritation involving the right nipple. Exam demonstrated a small, 1 centimeter (cm), crusty erythematous rash. Initial trial of antibiotics did not improve symptoms. She underwent a punch biopsy which demonstrated MPD. Breast MRI showed a right NAC enhancement with a 0.5 cm mass at 12:00 o’clock position. Biopsy of the central mass demonstrated a grade 2 invasive ductal carcinoma, ER/PR+ without HER2 amplification. She underwent right mastectomy with SLNB with final pathology demonstrating stage IA disease (pT1apN0[sn]). 

Discussion: This case highlights a unique clinical sign for breast cancer recurrence despite a long period of remission. Several factors are associated with a high risk of late recurrence including ER+ tumors, diagnosis before the age of 40, treatment involving breast conserving surgery, 4 or more positive lymph nodes, and a T2 or higher tumor stage. It is challenging to know if the new breast cancer is recurrent or new primary, although management is similar. For patients with underlying malignancy, the rate of SLNB was 17% warranting nodal evaluation. MPD local recurrence has been shown to be common in patients who previously underwent nipple sparing mastectomy. Small, single institution, series found that patients with underlying MPD had worse survival compared to those without MPD. Unfortunately, no high quality, prospective, data exist to guide management for patients with MPD versus non-MPD recurrence; general approach includes SLNB followed by mastectomy; an alternative approach to mastectomy in women who recur a decade or two after initial PM and adjuvant radiation who are averse to mastectomy would be to repeat PM followed by partial breast radiotherapy. This case emphasizes the importance of early cancer surveillance to prevent delays in intervention.


Mammary Paget’s disease of the nipple as a sign of local recurrence two decades after properly treated breast cancer

Background: Mucinous Carcinoma of the breast is a rare subtype. It accounts for about 2% of all breast carcinomas. Mucinous Carcinomas are often mistakenly diagnosed as benign tumors. It is important to recognize the overlapping benign clinical, mammographic, sonographic and magnetic features to avoid delayed diagnosis.

Case Presentation: A 65-year-old African American woman presented with a palpable mass on her left breast. The patient had no family history or personal history of breast cancer prior to this appointment. The patient underwent a mammography, where the patient’s palpable mass was displayed as a high-density mass with well-defined margins. After the mammography, the patient had undergone both a breast MRI and an ultrasound guided biopsy, (which involved a biopsy marker clip in the palpable mass). The breast MRI showed the palpable mass with high signal intensity on T2 weighted imaging, and benign appearing kinetics. However, from the ultrasound guided biopsy, it was shown that the patient had Mucinous Carcinoma of the breast. After treatment, the patient chose to receive a mastectomy. 

Discussion: Mucinous Carcinoma of the breast is a rare subtype of breast cancer that typically occurs in women over 60 years old. It typically presents as a lump or mass in the breast. Mucinous Carcinomas tend to be larger in size compared to other breast cancers at the time of diagnosis. They often have well-defined borders and can be mobile within the breast tissue. Diagnosis of Mucinous Carcinoma of the breast typically involves imaging tests, such as mammography, and or ultrasound, along with a tissue biopsy. On mammography, ultrasound and magnetic resonance imaging (MRI), Pure Mucinous subtype presents as a well-circumscribed mass and, therefore, can be confused with a benign lesion. On MRIs, Pure Mucinous Carcinoma of the breast has higher diffusion coefficient values and therefore presents as high signal intensity T2-weighted imaging and benign-appearing kinetics with persistent enhancement. These MRI features could be difficult to distinguish from benign lesions, such as cysts fibroadenomas or intramammary lymph nodes and can often result in a delayed diagnosis. Knowledge of this is necessary because delayed diagnosis can lead to poorer health outcomes and health disparities in the future.


Mucinous Carcinoma of the Breast in a 65-Year-Old Woman

This clinial vignette explores the critical issue of uterine hemorrhagic rupture in cornual ectopic pregnancies, a rare but life-threatening condition. Cornual ectopic pregnancies are challenging to diagnose due to their location and can result in severe hemorrhage and hypovolemic shock if not detected early. This case presentation highlights the urgent need for prevention and intervention in such cases. This case also emphasizes the importance of considering social determinants of health, such as insurance and access to prenatal care, in patient care and research, as they can impact the course and outcomes of such conditions.

Uterine Hemorrhagic Rupture in Cornual Ectopic Pregnancy​

Case Presentation
A 2 year old female, ex-34 week preterm with a relevant family history of a male sibling with TTD and birth history of a TTD diagnosis, presents to the emergency department with feeding intolerance and episodic vomiting. Serially performed MRIs at 4 weeks old (corrected age of term birth) and 2 years old demonstrates progression of the condition. T1-weighted imaging presents with enlarged ventricles and significant hypointensity in areas of expected myelination. T2-weighted imaging displays significant hyperintensity in those same areas, suggestive of dysmyelination. Simplified gyral patterns were also observed. One week after the MRI, the patient had an overnight coughing episode resulting in her death, despite resuscitation efforts.

Discussion
TTD is a rare condition with a poor prognosis in children under 10 years old––a 20-fold higher risk of mortality than the general population, especially succumbing to infection. MRI performed on neonates as early as full term exhibits signs of dysmyelination in key structures such as the posterior third of the posterior limb of the internal capsule, ventrolateral nucleus of the thalamus and the optic radiations. Until 2 years of age, analysis of myelination of key structures can help monitor proper brain development. When physicians observe cortical atrophy and diffuse dysmyelination on MRI along with significant birth history, TTD should be included in the differential diagnosis.

From a Radiological Perspective: Progression of Trichothiodystrophy
in a Pediatric Case

Background
Intracranial pseudoaneurysms (IPAs) are rare in of themselves, accounting for <1% of all intracranial aneurysms, but have been reported at a higher incidence in the pediatric and adolescent population. If left untreated, the mortality rate of these lesions can reach up to 50% due to rupture and catastrophic intracranial hemorrhage. Therefore, early recognition and treatment of this condition in the pediatric population is essential to prevent further morbidity and future mortality.
In contrast to adult IPAs, pediatric IPAs account for up to one-third of all pediatric intracranial aneurysms and have different clinical presentations, complications, and treatment outcomes. Children do not possess the typical risk factors associated with intracranial aneurysms of adults, which should prompt further investigation into a cause for vessel wall injury. Potential etiologies include underlying vasculopathies, indicated in one tenth of pediatric cases; infectious agents; and extrinsic insults, such as head trauma. Pediatric IPAs can present with intracranial hemorrhage, with associated symptoms of sudden onset headache, seizures, vomiting, or loss of consciousness.
In contrast to adults, pediatric patients have a higher frequency of complex-appearing, large (i.e. 15-25 mm in diameter) or giant (i.e. >25 mm in diameter) IPAs, overall contributing to greater involvement of surrounding intracranial structures. Local mass effect due to these lesions can lead to intracranial complications, such as acute infarction or hydrocephalus.

Case Presentation
A 13-year-old with a family history of intracranial neoplasm presented with persistent headaches for a few months. Noncontrast MRI brain showed a large, mass lesion involving the right basal ganglia. The subsequently performed MRA brain and postcontrast MR imaging further characterized this lesion as a giant right MCA pseudoaneurysm. Local mass effect from the lesion on the foramen of Monro resulted in lateral ventricular enlargement. Right frontal encephalomalacia was also seen, presumably reflecting additional sequelae of prior vascular injury. Surgical intervention was performed soon after patient presentation.

Discussion
According to the ACR Appropriateness Criteria for pediatric headaches, imaging is not routinely indicated for primary headaches. In contrast, CT or MR imaging is usually appropriate for secondary headaches in pediatrics. Differentiation of primary and secondary headaches in children is clinically challenging. Clinicians should maintain a high level of suspicion for concerning symptoms and risk factors in pediatric patients, which would warrant an imaging assessment. While rare, IPAs are an important differential consideration to remember as definitive treatment is available and can help reduce future patient morbidity and mortality.

Pediatric Intracranial Pseudoaneurysms

Background
Autoimmune tracheitis is a rare condition where the immune system attacks the lining of the trachea, causing inflammation and swelling. It can lead to symptoms such as chronic cough, hoarseness, difficulty breathing, and, in rare cases, hemoptysis. The exact cause of autoimmune tracheitis is unclear, but it is thought to involve genetic and environmental factors. Diagnosing the condition can be challenging due to its rarity and overlapping symptoms with other respiratory conditions. 

Case Presentation
We present the case of an 82-year-old female with a history of well-controlled rheumatoid arthritis on methotrexate and a chronic tracheostomy inserted in childhood for vocal cord paralysis . The patient presented to the emergency department with a 6-month history of hemoptysis, weight loss, and loss of appetite. Physical examination and chest X-ray did not reveal any notable findings. Chest CT scan showed circumferential thickening of the mid trachea, including diffuse involvement of the posterior tracheal membrane. This area was also avid on PET scan, suggestive of ongoing inflammation. Rigid bronchoscopy revealed tracheitis and diffuse thickening of tracheal mucosa, resulting in severe narrowing of the tracheal lumen.
Biopsy results from the procedure were negative for malignancy but demonstrated the presence of plasma cells, complement deposition, and immunoglobulins suggestive of an autoimmune etiology. There was no evidence of granulomas and Congo Red Stain for amyloidosis was also negative. Microbiology, including Acid Fast Bacilli cultures, were negative as well.
Extensive autoantibody testing was performed to identify possible autoimmune conditions, and other than elevated rheumatoid factor, testing was unrevealing. Therefore, clinical diagnosis of autoimmune tracheitis was established. Treatment was initiated with prednisone therapy, followed by infusion of Adalimumab. The prednisone dosage was gradually tapered over time, and repeat bronchoscopy showed significant reduction of inflammation. During a six month follow up period, the patient remains asymptomatic. .


Discussion
Autoimmune tracheitis presents a significant diagnostic and management challenge due to its rarity and lack of specific criteria. There is paucity of literature on this topic. Guttman et al described a patient with Crohn's disease who developed tracheal cartilage inflammation successfully treated with anti TNF therapy. To our knowledge this is the first case report of autoimmune tracheitis in a patient with rheumatoid arthritis. It is important to be aware of this condition in patients with autoimmune disorders presenting with respiratory complaints.

A Rare Case of Autoimmune Tracheitis In A Patient With Rheumatoid Arthritis Successfully Treated With TNF-a Inhibitor

Background
Antisynthetase syndrome is a rare idiopathic inflammatory myopathy characterized by myositis, interstitial lung disease (ILD), arthritis, Raynaud’s phenomenon, mechanic’s hands, and antibodies against aminoacyl-transfer RNA synthetase, most commonly anti-Jo1 antibody.

Case Presentation
A 36-year-old Hispanic female with no known past medical history presented to the emergency department for 1 week history of left calf pain. She was diagnosed with unprovoked left popliteal vein thrombosis and was discharged on rivaroxaban. She returned the following day for dyspnea and chest pain. She had stable vital signs with adequate oxygenation at room air. Lung auscultation revealed clear breath sounds. Bloodwork showed mild leukocytosis and elevated CK, AST, ALT, and LDH. CT pulmonary angiogram (CTPA) was negative for pulmonary embolism but revealed large infiltrates in bilateral lower lung fields with small bilateral pleural effusions. Ground-glass infiltrates on bilateral upper and lower lobes were seen on high resolution chest CT. Infectious workup for pneumonia was negative. Further questioning revealed a history of two first trimester miscarriages, eczematous skin lesions, and bilateral knee pain. Rheumatologic workup was pertinent for elevated ESR and CRP and positive anti-Ro antibody. ANA, anti-dsDNA, anti-Scl-70, anti-RNP, anti-Smith, anti-cardiolipin, B2-glycoprotein, and lupus anticoagulant were negative. She was started on warfarin for possible antiphospholipid syndrome and steroids for ILD. Four months later, she had worsening dyspnea along with fever and proximal muscle weakness in bilateral lower extremities requiring hospital readmission. CTPA showed progression of bilateral upper and lower lobe ground-glass infiltrates. EMG-NCV was normal. Lung biopsy showed interstitial fibrosis and muscle biopsy of the left vastus lateralis revealed necrotizing autoimmune myopathy. Further rheumatologic workup was significant for positive IgM anticardiolipin and anti-PL-7 antibody but negative anti-Jo1 antibody. Based on the finding of ILD, myositis, and positive anti-PL-7 antibody, a diagnosis of antisynthetase syndrome was made. She continued steroid therapy and started mycophenolate. She had either inadequate control or experienced side effects of the various immunosuppressants. She had tuberculosis while on mycophenolate, myositis flares while on azathioprine, and rhabdomyolysis while on tacrolimus. Her course was complicated by cardiac myositis, and she received intravenous immunoglobulin and rituximab. She was stable on discharge with plans for further infusion, but she died a few weeks later from respiratory failure.

Discussion
Diagnosis of antisynthetase syndrome is based on clinical features and presence of aminoacyl-transfer RNA synthetase antibody, and treatment consists of immunosuppressive therapy. This case illustrates the complexity of diagnosis, often requiring a multi-disciplinary approach, and the difficulty to control symptoms.

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Next from AMA Research Challenge 2023

Multiple Imaging Modalities of Bouveret's Syndrome with Further Gallstone Migration