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Atypical Parkinsonian syndromes are a subset of progressive neurodegenerative disorders that present with signs of Parkinson's disease. However, due to multisystem degeneration, the atypical Parkinsonian syndromes have additional symptoms that are often referred to as Parkinson-plus syndromes. The most well-studied subsets include progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and Lewy body dementia. Specifically, progressive supranuclear palsy is a tauopathy neurodegenerative disorder that presents with parkinsonism symptoms along with postural instability, vertical saccade, and vertical gaze palsy. Here, we present a case of PSP and provide a brief review of the literature.

Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT gene located on chromosome 19, which impairs the conversion of guanidinoacetic acid (GAA) to creatine. The resulting accumulation of the toxic metabolite GAA and the lack of creatine lead to various symptoms, including global developmental delays, behavioral issues, and epilepsy. The gold standard for diagnosis of GAMT deficiency is genetic testing. Treatment options for GAMT deficiency include creatine supplementation, ornithine supplementation, arginine restriction, and sodium benzoate supplementation. These treatment options have been shown to improve movement disorders and epileptic symptoms, but their impact on intellectual and speech development is limited. Early intervention has shown promising results in normalizing neurological development in a minor subgroup of patients. Therefore, there is a growing need for newborn screening techniques to detect GAMT deficiency early and prevent permanent neurological delays. Here we report a case of GAMT deficiency with emphasis on imaging presentation. Our case showed reduced brain parenchyma creatine stores on MR Spectroscopy, which may provide an avenue to aid in early diagnosis.

Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins. A few of these neurodegenerative diseases have been associated with degeneration of the transverse pontocerebellar tracts and median pontine raphe nuclei. This specific neuron degeneration results in the radiologic hot cross bun sign (HCBS) on MRI T2 imaging and helps narrow down the differential diagnosis. While multiple system atrophy has a higher prevalence of the HCBS than other neurodegenerative diseases, the sign has also been described with other neurodegenerative disorders such as spinocerebellar ataxia (SCA), and variant Creutzfeldt-Jakob disease. Here, we present a case of spinocerebellar ataxia type 34 with a characteristic hot-cross bun sign and provide a brief review of the literature.

Schwannomas are rare nerve sheath tumors that can occur throughout the body, and are symptomatic based on location, size, and impingement on adjacent structures. These tumors are often benign lesions and occur sporadically or from genetic conditions such as neurofibromatosis. Schwannomas may arise from peripheral nerves, gastrointestinal nerves, spinal nerve roots and cranial nerves. Facial nerve schwannomas arise from cranial nerve VII, commonly involving the geniculate ganglion, labyrinthine segment, and internal auditory canal. While small lesions are asymptomatic, larger lesions can cause facial nerve paralysis, and facial spasms. Lesions in the internal auditory canal can cause hearing loss, tinnitus, vertigo, and otalgia. High-resolution CT imaging and MRI imaging are useful for distinguishing between other pathologies that arise from the same region. High-resolution CT scans can show bony degeneration of nearby structures such as the labyrinth or ossicles. MRI imaging shows hypo intensity on T1 imaging, and hyperintensity on T2 imaging. On T1 postcontrast, enhancement can be homogenous or heterogeneous with cystic degeneration if the lesion is large. Nodular enhancement is commonly seen on facial nerve schwannomas within the internal auditory canal. Vestibular schwannomas involving CN VIII are more common, and appear similar to facial nerve schwannomas, but can be distinguished apart due to growth in the geniculate ganglion and/or the labyrinthine segment. Management of asymptomatic or mild lesions is typically conservative with follow up imaging, and surgery for larger lesions. Here, we present a case of a facial nerve schwannoma in a 57-year-old woman.

Adenocarcinomas of the distal bile duct are traditionally classified as either pancreatobiliary or intestinal type, with pancreatic adenocarcinoma and cholangiocarcinoma included within the former classification. Cholangiocarcinoma is a rare and deadly malignancy that occurs within three clinically defined regions: intrahepatic, perihilar, and in the distal bile duct. We present a 68-year-old male with a past medical history of human immunodeficiency virus, hepatitis B, hypertension, and hyperlipidemia who presented to the emergency department with a 3-week history of diarrhea, diffuse abdominal pain, malaise, and nausea. Contrast enhanced CT of the abdomen and pelvis revealed a periampullary mass. Endoscopic ultrasound biopsy was performed, with histopathology suggestive of distal cholangiocarcinoma. Endoscopic retrograde cholangiopancreatography was utilized for palliative stent placement until patient received pancreaticoduodenectomy (ie, Whipple procedure). In this case, we highlight the imaging presentation and histopathology of a distal cholangiocarcinoma.

Infective endocarditis is a life-threatening disease that is associated with a significant risk of morbidity and mortality. One of the most serious complications of infective endocarditis is perivalvular and aortic root abscess formation. Due to the high propensity for rupture and continued spread within the aorta and surrounding organs, surgical management is recommended and can improve long-term survival. Imaging plays a critical role in diagnosis of infective endocarditis and its sequalae. Initial workup includes transthoracic and/or transesophageal echocardiography, as part of the modified Duke criteria for diagnosing infective endocarditis. If paravalvular abscesses are suspected, CTA chest can characterize invasion and spread of the abscess. Here, we present a 55-year-old male with recurrent infective endocarditis with an aortic root abscess. The abscess was first identified through transesophageal echocardiography and subsequently confirmed using CTA chest. Surgically, the patient required pulmonic and aortic valve replacement along with aortic root reconstruction.

Rupture of the right ventricular (RV) myocardium is associated with serious morbidity and mortality. Under very rare conditions, a tear in the ventricular wall can lead to the formation of a pseudoaneurysm: an external outpouching of the ventricle that is stabilized by the pericardium, thrombus formation, and/or adhesions. Here, we present a 75-year-old man with RV free wall rupture with pseudoaneurysm following a motor vehicle collision. With concerns for blunt cardiac trauma, initial CTA chest revealed focal outpouching and extension of contrast outside of the confines of the RV chamber, compatible with pseudoaneurysm formation. In this case, conservative management of the pseudoaneurysm was preferred over surgical management, due to the thin RV free wall and present comorbid conditions. We highlight how CTA chest offers a reliable tool for tracking the stability of pseudoaneurysms in the RV and can guide clinical management through directing treatment strategies and appropriate follow-up intervals.

Presence of acute optic disc and optic nerve infarction in a young man is uncommon finding. This is most commonly seen in the setting of vasculitis and infection. Ischemic optic neuropathy has been reported with cocaine use, amlodipine and alcohol use. To our knowledge there is no reported case of ischemic optic neuropathy in the setting of heroin / opioid use. MR imaging findings in the setting of substance use are similar to other etiologies of ischemic optic neuropathy, with high T2/FLAIR signal, diffusion restriction and abnormal gadolinium enhancement. Here we report a case of 23-year-old man with heroin use disorder presenting with optic nerve infarct resulting in acute painless monocular vision loss.

Bronchial artery aneurysm and pseudoaneurysm is a rare but life-threatening diagnosis due to catastrophic complications from rupture. Prompt detection and management is key to prevent complications. CT angiogram and digital subtraction angiography are preferred diagnostic imaging modalities. Being very uncommon, these entities can be misdiagnosed as a nonspecific mediastinal soft tissue mass, which can lead to delay in diagnosis and inappropriate or delayed management. We present a case of 72-year-old woman with incidentally detected large bronchial artery pseudoaneurysm, incorrectly classified as mediastinal malignancy at outside facility, receiving follow-up exams for 2 years, before correct diagnosis and management.

Aortoenteric fistula is a life-threatening emergency and is associated with high morbidity and mortality. Prompt surgical intervention before the aneurysm ruptures lowers the mortality rate to about 50%. Potential imaging mimics for aortoenteric fistula include retroperitoneal fibrosis, mycotic aortic aneurysm, and infectious aortitis. Secondary aortoenteric fistula has relative higher incidence compared to primary and is more common with open aortic repair versus endovascular stent graft repair. Ectopic gas in the aneurysm sac and extravasation of enteric contrast into the aneurysm sac is diagnostic for aortoenteric fistula. However, enteric contrast is not recommended for routine evaluation of aortoenteric because the aforementioned finding is extremely rare. More common imaging findings include bowel loop appearing adherent to aneurysm sac with associated inflammatory stranding and foci or ectopic gas within the aneurysm sac or interposed between the bowel and aneurysm sac. Here we present a case of 52-year-old male who presents with incidental primary aortoenteric fistula.

Tracheobronchial amyloidosis, manifested by amyloid deposits limited specifically to tracheal and bronchial tissue, is a rare manifestation with only a few hundred published cases. Patients classically present with symptoms related to fixed upper airway obstruction caused by tracheal stenosis. Clinical symptoms are non-specific and include hoarseness, dyspnea, cough, stridor, hemoptysis, and dysphagia, which are similar to those caused by more common airway disorders, often leading to incorrect, missed, and delayed diagnosis. The wide-spread use of computerized tomography (CT) imaging has the potential of dramatically advancing the early diagnosis of tracheobronchial amyloidosis. We present a case of a patient with chronic and progressive hoarseness, diagnosed with tracheobronchial amyloidosis, with a focus on unusually clear and precise CT soft tissue neck imaging. CT imaging demonstrated nodular circumferential raised mass-like thickening involving the long-segment posterior wall of the distal trachea. The wall thickening also extended into the proximal left main stem bronchi, but spared the distal bronchial tree. This resulted in moderate (approximately 50%) narrowing of the tracheal lumen, which explained the patient's hoarseness. Routine CT imaging of patients with chronic and progressive respiratory symptoms, including cough, hoarseness, and dyspnea, is recommended. Tracheobronchial amyloidosis is an uncommon disease, but it may become more commonly recognized with broader use of more effective CT imaging protocols.

While germ cell testicular cancer is rare and only accounts for 1% of cancers in males, it is the most common solid malignancy among men between 14 and 44 years of age. Testicular cancer can be surgically excised by orchiectomy and is highly responsive to both chemotherapy and radiation therapy. Therefore, testicular tumors generally have the best cancer prognoses, especially since the majority are localized in the initial stage. However, long-term outcome depends on the potential for germ cell testicular cancer to metastasize, both proximal to the testicles and distally throughout the body. Germ cell testicular cancer metastasis to soft tissue, including the trunk, and extremities, appears to be exceedingly rare, as reflected in the extremely limited number of published cases (total of seven patients reported in literature). Vague symptomatology, delayed medical attention, and inconsistent treatment compliance may contribute to testicular soft tissue metastasis and underreporting of these tumors. Here, we report a case of metastatic non–seminomatous germ cell testicular cancer with a large necrotizing, ulcerative mass in the left Iliopsoas muscle and posterior abdominal wall.

Acute appendicitis is a surgical emergency. However, the presence of vermiform appendix in a hernial sac is rare. It is even rarer to find inflamed appendix in an hernial sac. The most common site is right groin hernia (Inguinal > Femoral). There is low incidence of an incisional hernia following renal transplantation, as compared to patients with laparotomy. Appendicitis in hernial sac masquerades clinical presentation of an incarcerated hernia. Computed tomography plays a pivotal role in early diagnosis, demonstrating a dilated appendix with wall thickening and peri-appendiceal fat stranding. Patients are managed with appendectomy. The management of appendiceal hernias without inflammation remains controversial, with few reported cases managed with hernia sac repair or appendectomy. In this report were described a case of appendicitis in an incisional hernia following renal transplantation which was managed with appendectomy.

Lingual thyroid is by far the most common presentation of ectopic thyroid. Though mostly asymptomatic it is associated with congenital hypothyroidism and importantly, absence of orthotopic thyroid making it the only functional thyroid tissue a patient has in many cases. It appears indistinguishable to orthotopic thyroid tissue on imaging, with avid homogeneous enhancement on contrast computed tomography. Here we report clinical presentation and imaging findings of lingual thyroid in a 38-year-old man.

Eosinophilic myocarditis (EM) is a cardiac manifestation of hypereosinophilic syndrome with a high mortality rate. EM shares imaging features similar to other restrictive cardiopathies, and include patchy intramural late gadolinium enhancement on cardiac magnetic resonance with or without presence of biventricular thrombus. Diagnosis is confirmed on histopathology, and is the current gold standard. Here we report clinical presentation and imaging findings of EM in a 70-year-old woman who presented with fever and chills.

The crista terminalis is a normal anatomical structure, characterized by a smooth muscular ridge along the superior aspect of the right atrium. It is derived from resorption of the right valve of the sinus venosus and it divides the right atrium into smooth posteromedial and trabeculated anterolateral portions. Crista terminalis is not normally detected in the standard views of transthoracic echocardiogram and non-gated CT of the chest. In rare circumstances, the crista terminalis may be prominent and could lead to misdiagnosis as a malignant process, such as in our case. A comprehensive understanding of the crista terminalis anatomy, and its characteristic appearance on transthoracic echocardiogram, CT and PET/CT will minimize the risk of misdiagnosis and will avoid patient anxiety with more extensive examinations. Here, we present a case of a 78-year-old male with newly diagnosed high-grade invasive urinary bladder urothelial carcinoma. Pre-operative transthoracic echocardiogram reported as 2 cm right atrial mass concerning a metastasis lesion. Subsequent evaluation with MRI cardiac morphology confirmed the diagnosis of benign prominent crista terminalis, a normal anatomical structure.

ABSTRACT: Granulomatosis with polyangiitis formerly known as Wegener's granulomatosis was first described by German pathologist Friedrich Wegener in 1936. It is a multi-system necrotizing noncaseating granulomatous vasculitis which affects small to medium-sized vessels. It can involve any organ system, most commonly the lungs and kidneys. American College of Rheumatology requires 2 of 4 criteria for diagnosis: Positive biopsy for granulomatous vasculitis, urinary sediment with red blood cells, abnormal chest radiograph and oral/nasal inflammation. Here we present a case of Granulomatosis with polyangiitis with brief review of literature.

While ingestion of a foreign body by children is common, diagnosis is often challenging, especially when the consumption by a young child is unwitnessed and presenting symptoms mimic other medical conditions. If the foreign body does not pass spontaneously, radiological imaging studies are typically performed, but visualization and identification of the ingested foreign object can be inconclusive, especially when an unidentified mass is radio translucent. Under this circumstance, physicians often have to go on a “fishing expedition”, using exploratory endoscopy and/or surgery to identify and extract the object that became lodged. In this report we discuss a case of a 3 year-old boy who presented with abdominal pain and signs of bowel obstruction. Imaging revealed an ingested “radiolucent” foreign body, masqueraded as soft-tissue mass and enteric duplication cyst, delaying the diagnosis. Systematic shape and density reanalysis of CT and US imaging suggested a hollow object lodged at the terminal ileum. The patient underwent exploratory laparotomy with extraction of a hollow toy “fish”. There is a dearth of literature regarding hollow ingested objects. This case report highlights the importance of systematic density and shape imaging analyses in order to identify and locate hollow ingested objects.