Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented. Though a small number of case reports describe the neuroimaging features and the renal ultrasound manifestations of this disease, a comprehensive review of all the imaging manifestations has not been reported. The authors present a case of OCRL and review the neuroimaging and renal ultrasound manifestations of this multisystem disease.
Lowe Syndrome; oculocerebrorenal syndrome; renal nephrocalcinosis; MRI; ultrasound
Wandering spleen is a rare but potentially clinically significant entity, and may be a cause for a patient presenting with acute abdomen. Because wandering spleen may present with non-specific symptoms and presentation, it can be a difficult diagnosis to make clinically. This paper describes a case report of the use of dynamic Magnetic Resonance Imaging (MRI) in a young woman to confirm the diagnosis of wandering spleen pre-operatively. The patient underwent a splenopexy and a post-operative MRI confirmed the successful surgical fixation of the patient’s spleen.
wandering spleen; MRI; splenopexy; dynamic MRI
We present a case of pericardioesophageal fistula formation in a 40 year old male who 23 days after undergoing a repeat ablation procedure for atrial fibrillation developed chest pressure, chills and diaphoresis. After initial labs and tests that demonstrated no evidence for acute myocardial ischemia, the patient underwent CT angiography of the chest. The study revealed pneumopericardium and a pericardial effusion. Suspicion was raised of perforation of the posterior left atrial myocardial wall with injury to adjacent esophagus. Water soluble contrast with transition to barium sulfate esophagram subsequently performed identified a perforation further affirming the postulate of a fistulous communication between the esophagus and pericardium. Transthoracic echocardiogram confirmed pericardial effusion but did not demonstrate myocardial defect. Endoscopic management was preferred and an esophageal stent was placed. Follow up esophagram showed an intact esophageal stent without evidence of extravasation.
Left atrio-esophageal fistula; Pericardioesophageal fistula; CT angiography
We report a case of bronchopulmonary sequestration (BPS) in a 60 year old man with recurrent cough. After failed antibiotic therapy for presumed left lower lobe (LLL) pneumonia seen on chest radiographs, bronchoscopy was performed revealing cryptogenic organizing pneumonia. Further work-up with thoracic imaging demonstrates a feeding artery from the thoracic aorta to the LLL consolidation indicating the presence of BPS. A brief review of the clinical and radiological features and management options of BPS are listed, with particular emphasis on the various imaging modalities and techniques in the diagnosis and pre-surgical planning of intralobar sequestration.
Intralobar; extralobar; sequestration; pulmonary; pneumonia
Cloacal exstrophy is the most severe and rare form of the exstrophy-epispadias complex, presenting with exposed bladder halves extruding through an abdominal wall defect and variable genitourinary, gastrointestinal, musculoskeletal, and neurological defects. The authors report magnetic resonance imaging findings of a neurologically-intact, 24-month-old female with cloacal exstrophy who presented with anterior spinal dysraphism and diastematomyelia and duplicate pelvic floor musculature. The constellation of defects suggests a common genetic, biochemical, and embryological origin for duplication of the bladder, spinal cord, and pelvic floor muscles occurring in the fourth week of gestation.
Diastematomyelia; Spinal Dysraphism; Duplicated Pelvic Floor; Cloacal Exstrophy; Exstrophy-Epispadias Complex; Etiology
Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome.
Hajdu-Cheney syndrome; Acro-osteolysis; wormian bones; acro-dento-osteo-dysplasia; NOTCH 2
Thoracolithiasis is the presence of one or more freely mobile pleural stones (with or without calcification) in the pleural space. They occur with a reported incidence of less than 0.1% and are benign and do not require intervention. Historically, they have led to unnecessary interventions - something unlikely in the era of multidetector computed tomography (CT). Thoracolithiasis should be included in the differential diagnosis of a single or multiple, mobile peripheral pulmonary nodules. Here, we review the imaging characteristics of a rare case of bilateral mobile thoracolithiasis.
Thoracolithiasis; pleural stone; pleural calcification; thoracic disease; bilateral
Gastroesophageal reflux disease (GERD) can be difficult to manage medically and may require endoscopic or surgical interventions. The Enteryx procedure was designed to enhance the gastroesophageal barrier function by endoscopic injection of a copolymer into the lower esophageal sphincter. We present a rare case of a patient who was found to have migration of the copolymer into the celiac trunk and bilateral renal arteries during a work-up for persistent intermittent hematuria, which began shortly after Enteryx therapy for GERD.
GERD; embolization; GEJ; Enteryx; hematuria
A posterior rectus sheath hernia is an abdominal wall hernia that is rarely encountered. Owing to its rarity, it can be easily overlooked in the setting of a patient presenting with abdominal pain. We report a case of a posterior rectus sheath hernia that caused intermittent small bowel obstruction. The unusual aspects of this case are that the defect was large, measuring 6 cm in the transverse diameter, and that it contained small bowel within a large portion of the rectus sheath. Because the defect was large and affected nearly the entire posterior rectus sheath, it was difficult to discern on computed tomography until a small bowel obstruction developed. In this case, a limited awareness of this clinical entity contributed to the delay in diagnosis.
CT; abdomen; hernia; rectus sheath; small bowel obstruction; abdominal pain
Autologous fat grafting or lipomodeling is a newly-adopted technique that is gaining increasing popularity in the treatment of contour deformities following breast conservation therapy. Here, we describe the case of a 47-year-old woman with a prior history of breast cancer treated with a lumpectomy and radiation therapy. She underwent lipomodeling not only of her treated breast but also of the contralateral breast. She presented for her annual mammogram which was performed with digital breast tomosynthesis. On imaging, a space-occupying lesion of mixed density was seen, expanding the lumpectomy site. There was also subtle distortion in the contralateral, non-treated breast. This case aims to highlight the mammographic and tomosynthesis findings seen following lipomodeling that may present diagnostic challenges in this patient population.
Mammography; tomosynthesis; lipomodeling; fat grafting; cancer; recurrence; fat necrosis
We report an interesting case of a 19 year old female with findings on MRI suggestive of viral encephalitis. An extensive workup was negative for infectious causes and she was subsequently diagnosed with anti-NMDA encephalitis. Anti-NMDA encephalitis is a highly lethal but treatable form of autoimmune encephalitis that has recently been characterized. It is frequently found in young women and associated with an underlying teratoma. Although rare, this diagnosis should be considered in young females for whom a rapid onset of encephalitis cannot be explained by more common causes.
Anti-NMDA; NMDA receptor; encephalitis; MRI; teratoma
Congenital indifference to pain is a rare and debilitating congenital disease. Individuals with the disorder may have one or a combination of sensory or autonomic deficits, which can range from lack of mechanical nociception, diminished ability to detect heat and cool stimulation, to the devastating and fatal form which includes autonomic dysfunction. It is important for radiologists to be able to recognize the radiographic presentations of this rare disorder, as delay in diagnosis can lead to extensive and sometimes unnecessary workup. We present a case of congenital indifference to pain initially interpreted as a mass of the distal femur.
Congenital indifference to pain; congenital insensitivity to pain; congenital insensitivity to pain with anhydrosis; congenital pure analgesia; MRI; bone scan; neuropathic arthropathy; inflammatory arthropathy
Hepatic angiosarcomas are rare mesenchymal tumors with few case series and reports describing their imaging findings in the last two decades. The computed tomography and magnetic resonance imaging findings are variable and may appear like hemangioma at one end of the spectrum and hepatoma at the other end. The use of hepatocyte specific contrast on magnetic resonance imaging may also be insufficient in making a reliable imaging diagnosis. These tumors can easily mimic hypervascular liver cancer, atypical hemangioma or metastases. This case report highlights the imaging features of this entity and also underlines that, this tumor should always be considered as a differential diagnosis for hypervascular tumors in cirrhotic patients. The current imaging paradigms for its diagnosis are also discussed.
Angiosarcoma; Liver; MRI; CT; hepatocyte specific contrast
Hepatic arteriovenous malformations are rare congenital lesions associated with significant morbidity and mortality, most commonly from high output cardiac failure. Efficient diagnosis and treatment demands an interdisciplinary approach, and the interventional radiologist plays a pivotal role in both. Imaging is important for diagnostic accuracy and treatment planning, and transcatheter embolization has become an established primary therapy. We report the clinical and imaging findings of a rare hepatic arteriovenous malformation in an infant presenting with high-output cardiac failure and pulmonary artery hypertension that was successfully treated by transarterial embolization using Onyx.
Arteriovenous malformation; vascular malformation; liver; embolization; Onyx; interventional radiology
We report a case of a 14 year-old girl with Diabetes Mellitus who was in remission with pre-B cell Acute Lymphoblastic Leukemia and subsequently diagnosed with Erdheim-Chester disease. Erdheim-Chester disease is a non-Langerhans cell histiocytosis and is very rare in children. In addition, the radiological features of the lesions are atypical and have not been reported in children. There is no known association between the three conditions and this is the first reported case in the literature. A literature review of Erdheim-Chester disease will be performed.
Erdheim-Chester disease; Langerhans cell histiocytosis; osteolytic lesions; Touton type giant cells; Interferon alpha
A 51-year-old male with history of resected renal cell carcinoma and prior pulmonary embolism presented with tachypnea, tachycardia and progressive dyspnea on exertion. Chest computed tomography revealed bilateral acute pulmonary embolism. Transthoracic echocardiogram showed severe pulmonary hypertension with severe cor-pulmonale and presence of a large worm-like thrombus extending across the foramen ovale, entering both ventricles through the mitral and tricuspid valves. The risks of anti-coagulation, pharmacologic thrombolysis, and surgical thrombectomy, in a hemodynamically stable patient, posed a significant therapeutic dilemma. Ultimately, a collective decision was made to start anticoagulation, without incident. At 1 month follow up, complete resolution of the intracardiac thrombus, pulmonary hypertension, and cor-pulmonale were observed with full clinical recovery of the patient.
Thrombus; paradoxical emboli; patent foramen ovale; pulmonary embolism; echocardiography
Pain and impaired function in the shoulder can result from a variety of conditions. Dysplasias of the shoulder girdle are usually asymptomatic; previous literature reports on shoulder malformation have focused on glenoid dysplasia or complete agenesis of the clavicle. We report the case of an 11 year old patient with severe shoulder pain after strenuous physical exercise. Physical inspection showed a prominent clavicle and anteriorly displaced humerus. X-ray demonstrated an abnormally shortened clavicle and a hypoplastic acromion; MRI imaging revealed an elongated deltoid muscle leading over the humeral head. The patient recovered with analgesics and careful mobilization. This is the first reported case of a dysplasia of both the acromion and the clavicle. This developmental abnormality can lead to significant pain, but apparently responds well to conservative treatment. It is possible that this condition is underdiagnosed or represents significantly delayed development.
Acromioclavicular dysplasia; shoulder dysplasia; developmental abnormality; shoulder; X-ray; magnetic resonance imaging
Gas within the portal circulation has been known to be associated with a number of conditions most commonly mesenteric ischemia and necrosis. Systemic venous gas is described with few conditions and is mostly iatrogenic in nature. We describe a case of combined portal and systemic venous gas detected by computed tomography in a patient with perforated duodenal ulcer.
Portal gas; venous gas; ischemia; systemic venous gas; computed tomography; perforated; duodenal ulcer
We will present the fourth case in the English-language literature of a mid-gestational colonoscopy-assisted manual reposition of an incarcerated uterus. Despite the ready availability of ultrasound, a great number of incarcerations are not recognized before term. Since early diagnosis is the key to a successful treatment, it is important that providers acquire prompt knowledge of this obstetric disorder. Magnetic Resonance Imaging has an important additional value to ultrasound in the detailed scanning of this potentially perilous condition.
Uterine incarceration; Pregnancy; Diagnosis; Ultrasound; Magnetic resonance imaging; Sigmoidoscopy
Ureteroarterial fistula is a rare, potentially life-threatening cause of hematuria characterized by an abnormal channel between a ureter and artery. The rarity of this condition, complexity of predisposing risk factors and intermittence of symptoms may delay or obscure its diagnosis. With a high index of suspicion and careful angiographic evaluation, embarking on this condition is not only possible but sets the stage for curative intervention. We report a case of a ureteroarterial fistula presenting with intermittent hematuria, successfully diagnosed at angiography and managed with endovascular stent graft placement.
Ureteroarterial fistula; intermitted hematuria; selective iliac angiography; colovesical fistula
Vessel wall magnetic resonance imaging at ultra-high field (7 Tesla) can be used to visualize vascular lesions noninvasively and holds potential for improving stroke-risk assessment in patients with ischemic cerebrovascular disease. We present the first multi-modal comparison of such high-field vessel wall imaging with more conventional (i) 3 Tesla hemodynamic magnetic resonance imaging and (ii) digital subtraction angiography in a 69-year-old male with a left temporal ischemic infarct.
Stroke; Cerebral Stroke; Cerebrovascular Accident; Cerebrovascular Stroke; Meningioma; Intracranial Meningioma; vessel-wall imaging; fMRI; Magnetic Resonance Imaging; Functional; MRI; Functional; Atherosclerosis
The authors report an unusual case of ulnar neuropathy caused by granular cell tumor. The report describes the anatomic 3 Tesla MR Neurography and functional diffusion tensor findings of the case, which was subsequently confirmed on surgical excision and histopathology.
MR Neurography; MRN; Granular Cell Tumor; Ulnar Nerve; Sarcoma
Wandering spleen is a rare clinical entity characterized by splenic hypermobility resulting from laxity or maldevelopment of the suspensory splenic ligaments. The spleen can “wander” or migrate into various positions within the abdomen or pelvis due to this ligamentous laxity. It is usually detected between 20 and 40 years of age, and is more common in women. The clinical presentation of a wandering spleen is variable, it could present as an asymptomatic, incidentally detected, abdominal or pelvic mass, or as an acute abdomen secondary to splenic torsion. Diagnosis in an emergent setting can be challenging as it is a rare cause of acute abdomen and does not produce any symptoms until splenic torsion has occurred. We present and discuss a case of ectopic, torsed spleen resulting in complete infarction of the spleen and severe hepatic vascular compromise, diagnosed by ultrasound, confirmed by computed tomography and effectively managed by splenectomy.
Wandering spleen; Ectopic spleen; Torsion; Infarction; Acute abdomen; Ultrasound; Computed tomography
An 87 year-old white female presented with a two-year history of intermittent discomfort in her left foot. PET-CT identified intense18F-fluorodeoxyglucose (FDG) uptake corresponding to the lesion. Histology of a fine needle aspiration and open biopsy were consistent with a benign giant cell tumor (GCT) of the bone. GCT of bone is an uncommon primary tumor typically presenting as a benign solitary lesion that arises in the end of the long bones. While GCT can occur throughout the axial and appendicular skeleton, it is exceedingly uncommon in the bone of the foot. While 18F-FDG has been established in detecting several malignant bone tumors, benign disease processes may also be identified. The degree of 18F-FDG activity in a benign GCT may be of an intensity that can be mistakenly interpreted as a malignant lesion. Therefore, GCT of the bone can be included in the differential diagnosis of an intensely 18F-FDG-avid neoplasm located within the tarsal bones.
giant cell tumor of bone; lateral cuneiform; 18F-FDG; PET-CT
This article describes updates on author and reviewer guidelines for manuscripts submitted on or after July 1, 2014 to the interactive Journal of Radiology Case Reports.