Arie Franco

A case of Rosai-Dorfman Disease in a pediatric patient with cardiac involvement

Rosai-Dorfman disease (RDD) involves abnormal proliferations of oddly behaving histocytes that are not derived from the Langerhans Cell linage. These collections tend to occur within lymph nodes, with occasional extra nodal presentation. While RDD is a rare entity itself, extra nodal cases are even more so, with even fewer reporting cardiac involvement, and previously only in adults. This report describes the disease in a pediatric patient who had the unique feature of an extra nodal cardiac mass. The patient, who was known to have sickle cell disease, was initially erroneously thought to have acute chest syndrome. Sudden changes in the patients status, including development of 3rd degree heart block, demanded investigation with additional imaging. Chest CT revealed a mass arising from the cardiac interatrial septum and encircling the entire thoracic aorta. Imaging features of Rosai-Dorfman disease are nonspecific, complicating the diagnosis. We present this case with discussion of this extremely uncommon entity. We describe the diagnostic methods, the differential diagnosis, and the treatment options.

Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis

Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patients peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.

Gastric volvulus as a complication of liver transplant

We report a patient who developed mesenteroaxial gastric volvulus after a liver transplantation. We hypothesize that this complication may have been related to the ligation of the hepatogastric ligament done to mobilize the liver during hepatectomy.

A case of clear cell sarcoma of the kidney.

Clear cell renal sarcoma is a rare tumor and comprises 4% of primary pediatric malignant renal tumors. It is known as an aggressive tumor with poor prognosis. Clinically and radiographically, it resembles Wilms tumor. We present a case of a child with an abdominal mass that was diagnosed as clear cell sarcoma of her right kidney.

Pediatric rhabdomyosarcoma at presentation: Can cross-sectional imaging findings predict pathologic tumor subtype?

OBJECTIVE The purpose of the study is to determine whether there are cross-sectional imaging features of pediatric rhabdomyosarcoma that are specific to the different pathologic subtypes of the tumor. MATERIALS AND METHODS Medical records of 14 pediatric patients who were diagnosed with rhabdomyosarcoma were reviewed retrospectively. Patient demographics, including age and sex, as well as final pathologic report were obtained. The initial CT, MRI, or both obtained at presentation, prior to the diagnosis being established, were reviewed by two radiologists. We recorded tumor features including site, size, margins, local extension, and presence of metastases. Presence of calcification, hemorrhage, or necrosis as well as attenuation and heterogeneity of the tumor were also recorded. RESULTS Ten of our fourteen patients were formally diagnosed with the embryonal subtype of rhabdomyosarcoma, while three were found to have the alveolar subtype, and one subtype was poorly differentiated. There was no significant difference in the attenuation and in the heterogeneity of the tumor between the embryonal and the alveolar subtype on CT. CONCLUSION Imaging features at presentation, such as attenuation and heterogeneity, could not correlate to the pathologic subtype of pediatric rhabdomyosarcoma.

Normal variants of the accessory hemiazygos vein.

This short communication describes two normal variants of the accessory hemiazygous vein in a 15-year-old female. The article demonstrates that knowledge of the aberrant venous anatomy and the collateral pathway is important for the practising radiologist.

Delayed Myocardial Enhancement in Cardiac Magnetic Resonance Imaging

Delayed myocardial enhancement MRI is a highly valuable but non-specific imaging technique that is ancillary in the diagnosis of a variety of diseases including myocardial viability, cardiomyopathy, myocarditis and other infiltrative myocardial processes. The lack of specificity stems from the wide variety of differential diagnoses that may present with overlapping patterns of delayed enhancement. Many of these differential diagnoses have been presented and discussed in this article.

Paucity of biliary ducts: A rare etiology of neonatal cholestasis.

We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome. The main feature of the disease is a paucity of biliary ducts. There are two known types of the disease: the syndromic type which is associated with other congenital defects and the nonsyndromic type without other anomalies detected at birth. We describe the case and discuss its clinical and radiologic findings. We also discuss the various etiologies of cholestasis that are included in the differential diagnosis.

Sonographic presentation of uterine sex cord-stromal tumor.

A 24‐year‐old woman presented with continuous vaginal bleeding and anemia. Pelvic sonography demonstrated an enlarged uterus measuring 8.9 × 4.9 × 4.7 cm and a mass within the endometrial cavity measuring 3.0 × 1.8 cm. The mass appeared to be polypoid and echogenic, contained a small cyst, and was suggestive of a polyp. The patient underwent total vaginal hysterectomy. Pathologic examination revealed a uterine sex cord–stromal tumor. To our knowledge, the sonographic features of uterine sex cord–stromal tumor have not been previously reported. The sonographic appearance mimicked that of a polyp.

“NEONATE”—an expert application for the “HELP” system; Comparison of the computer's and the physician's problem list

NEONATE is a prototype of an expert application for the HELP Hospital Information System. Its goal is to improve documentation in the Newborn Intensive Care Unit. The decision module of NEONATE is designed to produce an admission problem list. In this paper, the admission problem list that NEONATE generates was compared to the admission problem list of the current CETUS system for 30 patients. These were compared to a retrospectively constructed gold standard problem list. Of 101 problems in the gold standard list, 56 were on the current admission reports; 82 were found by NEONATE. NEONATE found 31 problems missed on the current admission reports; the current admission reports contained 5 problems missed by NEONATE. The current admission reports contained 9 false positives; whereas NEONATEs reports contained 27. Of the 27, 16 were caused by a single rule in NEONATE. We conclude that an expert system has great potential for improving the documentation of the patient problem list.