Diagnostic Challenge in Heterotopic Pancreas in the Ampulla of Vater with Obstructive Jaundice - A Case Report and Literature Review.

Heterotopic pancreas is a rare congenital abnormality. The most common location is the stomach, duodenum and proximal jejunum. Rare locations are represented by the ampulla of Vater, esophagus, ileum, Meckel diverticulum, biliary tract, mesentery and spleen. We present the case of a 49 year old patient investigated for obstructive jaundice and diagnosed with an ampullar heterotopy of pancreas parenchyma, initially considered to be a malignant tumor. A Whipple pancreatoduodenectomy was performed with good postoperative evolution, the serum levels of bilirubin being normal after the first postoperative week.

Accessory liver lobe: an uncommon abdominal mass mimicker.

Heterotopic hepatic tissue is a rare development anomaly, exhibiting diverse forms and locations. We present a case report of an asymptomatic woman in her 40s who had an 8 cm mass in the left hypochondrium detected on routine ultrasound, which was initially suspected to be a tumour. Further investigation revealed that the mass had a similar enhancement to the liver on gadoxetate disodium-enhanced MRI and presented a connection with the original liver via vascular pedicle, favouring the diagnosis of accessory liver lobe (ALL). Accurate differentiation of ALL from other abdominal masses poses a diagnostic challenge, potentially leading to misdiagnosis of malignant tumours and unnecessary interventions. Although usually small and asymptomatic, rarely they can present with acute complications, and cross-sectional techniques play an important role in enabling early diagnosis and management. Therefore, radiologists must raise awareness regarding ALL, their imagological findings, and diagnostic pathways, and understand potential associated complications.

Placental Transmogrification of the Lung Presenting as Cystic-Solid Mass: A Case Report.

The gradually progressive solitary cystic-solid mass of chest CT scans is highly suggestive of lung cancer. We report a case of a 29-year-old woman with a persistent cystic-solid lesion in the right upper lobe. A chest CT scan showed a 35 mm × 44 mm × 51 mm focal cystic-solid mass in the anterior segment of the right upper lobe. The size of lesion had increased over 3 years, especially for the solid component. The right upper lobe pneumonectomy was performed. Postoperative pathological examination showed placental transmogrification of the lung, which is a rare cause of pulmonary cystic lesion.

Ectopic cervical thymoma: a rare entity in the anterior neck.

Thymoma is a rare malignancy with usual location in the antero-superior mediastinum. Ectopic cervical thymoma (ECT) is an extremely rare tumor that originates from ectopic tissue, and is caused by the aberrant migration of the embryonic thymus. Our patient was a 56-year-old man who had a nodular lesion in the neck for several years. Computed tomography and Enhanced magnetic resonance imaging were performed. He underwent surgery, and a histological examination resulted in a diagnosis of type AB thymoma.

Clinical features and treatment of heterotopic pancreas in children: a multi-center retrospective study.

OBJECTIVE: Heterotopic pancreas, an uncommon condition in children, can present with diagnostic and treatment challenges. This study aimed to evaluate the clinical features and treatment options for this disorder in pediatric patients. METHODS: We conducted a retrospective analysis, including patients diagnosed with heterotopic pancreas at four tertiary hospitals between January 2000 and June 2022. Patients were categorized into symptomatic and asymptomatic groups based on clinical presentation. Clinical parameters, including age at surgery, lesion size and site, surgical or endoscopic approach, pathological findings, and outcome, were statistically analyzed. RESULTS: The study included 88 patients with heterotopic pancreas. Among them, 22 were symptomatic, and 41 were aged one year or younger. The heterotopic pancreas was commonly located in Meckel's diverticulum (46.59%), jejunum (20.45%), umbilicus (10.23%),ileum (7.95%), and stomach (6.82%). Sixty-six patients had concomitant diseases. Thirty-three patients had heterotopic pancreas located in the Meckel's diverticulum, with 80.49% of cases accompanied by gastric mucosa heterotopia (GMH). Patients without accompanying GMH had a higher prevalence of heterotopic pancreas-related symptoms (75%). Treatment modalities included removal of the lesions by open surgery, laparoscopic or laparoscopic assisted surgery, or endoscopic surgery based on patient's age, the lesion site and size, and coexisting diseases. CONCLUSIONS: Only one-fourth of the patients with heterotopic pancreas presented with symptoms. Those located in the Meckel's diverticulum have commonly accompanying GMH. Open surgical, laparoscopic surgical or endoscopic resection of the heterotopic pancreas is recommended due to potential complications. Future prospective multicenter studies are warranted to establish rational treatment options.

Diagnostic and therapeutic challenges with germ cell tumours associated with transverse testicular ectopia and persistent Müllerian duct syndrome.

Transverse testicular ectopia (TTE) is an infrequent ectopic testis where both testes descend via the same inguinal canal, located in the same hemiscrotum, and augments the risk of developing testicular tumours. Type II TTE is accompanied by persistent Müllerian duct syndrome, where the Müllerian structures persist for various reasons. Here, we present a case of an adult in his early 30s, who presented with a right testicular swelling and was diagnosed as type II TTE and testicular mixed germ cell tumour after surgery. We could find only 13 similar cases of TTE and testicular tumours in the literature. Our case highlights the importance of clinical acumen with detailed history, meticulous clinical examination, radiological investigations and a detailed pathological examination while dealing with such sporadic presentations.

Benign ectopic prostate-a rare differential for a presacral mass.

A man in his mid-40s presented to the colorectal surgery clinic with complaints of chronic perianal pain for over 20 years. He had episodes of urinary incontinence associated with pain. There were no other symptoms to suspect bowel pathology. On examination, he was found to have a tender mass in the retro-rectal plane without any evidence of rectal mucosal irregularity. He underwent an MRI of the pelvis, which showed a well-defined T2 hyperintense partly cystic lesion in the presacral region abutting the mesorectal fascia and a normal prostate gland. With a suspicion of a tailgut cyst or a duplication cyst, he underwent an excision of the presacral mass. Intraoperatively, there was a 2 × 2 cm well-defined firm, cystic lesion anterior to the fifth sacral vertebra and coccyx. The lesion was adherent to the mesorectum and was excised. On histopathology, there were features of muscular stroma and bilayered glandular epithelium with clear cytoplasm conclusive of a benign ectopic prostate.

A rare case of mullerianosis of the liver and lung mimicking metastatic biliary cystadenocarcinoma.

Anatomically, normal cells found in an abnormal site are known as choristoma. When any two of the three-cell lineage of the mullerian duct, that is endosalpinx, endocervix and endometrium, are found at an abnormal location, it is termed mullerian choristoma or mullerianosis. Mullerianosis histologically reveals glands of varying sizes lined by cervical, tubal and endometrial cells. Individual cell lineages like endometriosis of the ovary, endosalpingiosis and endocervicosis of the urinary bladder are common. But mullerianosis is quite rare, and as per literature, only about 20 cases have been reported. We report a mullerianosis involving the liver and lung in a 41-year-old female that mimicked metastatic biliary cystadenocarcinoma. It is the first case reported in literature where there is simultaneous involvement of the liver and lung by mullerianosis. The diagnosis was made with the help of histopathology and immunohistochemistry in the resected specimens.

Ectopic pancreas tissue in the posterior mediastinum.

The occurrence of ectopic pancreas in the mediastinum is rare. Herein, we report a 22-year-old female who presented with right shoulder pain, dysphagia, fever and headaches. Chest computer tomography revealed a mass in the posterior mediastinum with accompanying signs of acute mediastinitis. Needle biopsy and fine-needle aspiration revealed ectopic gastral tissue and ectopic pancreas tissue, respectively. Surgical resection was attempted due to recurring acute pancreatitis episodes. However, due to chronic-inflammatory adhesions of the mass to the tracheal wall, en-bloc resection was not possible without major tracheal resection. Since then, recurring pancreatitis episodes have been treated conservatively with antibiotics. We report this case due to its differing clinical and radiological findings in comparison to previous case reports, none of which pertained a case of ectopic pancreas tissue in the posterior mediastinum with recurring acute pancreatitis and mediastinitis.

Congenital solitary osseous choristoma of the left lateral canthus: a case report.

BACKGROUND: An ocular osseous choristoma is a growth of mature, compact bone in the ocular or periocular soft tissue, and it is the rarest form of ocular choristoma, accounting for only 1.7% of all epibulbar choristomas. CASE PRESENTATION: Herein we present the case of a 20-month-old girl who was referred to the oculoplasty clinic with a progressively growing mass in the left lateral canthus. It had been present since birth without ocular involvement. Upon examination the mass was firm with a smooth surface, measured 9 × 6 × 3 mm, and exhibited no episcleral attachment or ocular involvement. An excisional biopsy was performed, and the histopathological findings were consistent with osseous choristoma of the left lateral canthus. CONCLUSIONS: This report highlights the importance of considering osseous choristoma in the differential diagnosis of eyelid lesions, particularly those that have been present since birth. It also emphasizes the need for further studies investigating associations between osseous choristomas and ocular canthi.

Primary Orbital Respiratory Epithelial Cyst: A Systematic Review and Two Case Reports.

A primary orbital respiratory cyst is a congenital choristoma that presents in the orbit and with different signs and symptoms depending on the location, which might also change the surgical approach. The aim of this report is to describe 2 new cases of primary respiratory epithelial cysts and to review the literature on presentation, management, and risk factors with different surgical approaches and complications. Two cases presenting with gradually increased proptosis had a confirmed diagnosis of a respiratory epithelial cyst. CT and MRI imaging revealed a thin-walled intraconal cystic lesion. Complete surgical removal was not possible and an incisional biopsy of the wall was performed. Rarely, orbital respiratory epithelium cysts are primary lesions. The high risk of breaking the capsule during surgery and the presence of residual epithelial cells within the orbit may cause cyst's recurrence. Indeed, we recommend careful attention during dissection maneuvers and a long-term follow-up.

A Rare Ectopic Parathyroid Adenoma in the Prevertebral Space.

Ectopic parathyroid adenomas are an uncommon etiology of primary hyperparathyroidism. We present a case of a patient admitted to the hospital with severe hypercalcemia and elevated parathyroid hormone levels, in whom imaging revealed two distinct parathyroid masses in the prevertebral space, representing a rare and atypical location for parathyroid tissue. This case highlights the importance of considering ectopic parathyroid adenomas as a potential cause of hyperparathyroidism and discusses the diagnostic challenges and management strategies associated with such cases.

Prenatal diagnosis of intrathoracic kidney and adrenal gland in left-sided congenital diaphragmatic hernia.

A 29-year-old primigravida at 31 weeks of gestation was referred for intrathoracic kidney (ITK). Ultrasound revealed left kidney intrathoracic placement with an anteriorly positioned ectopic adrenal gland. Magnetic resonance imaging confirmed diaphragmatic interruption and colon herniation. A female neonate, delivered at 37 weeks, underwent successful thoracoscopic repair for a left Bochdalek hernia. Despite compression of the left lung, notably optimistic lung-to-head ratio (LHR) values were observed, correlating with favorable outcomes. This case underscores the rare occurrence of ITK, its association with Bochdalek hernia, and the importance of comprehensive prenatal evaluations.

Epibulbar simple cartilaginous choristoma associated with unique pigmented multicystic component.

PURPOSE: To report an atypical presentation of an epibulbar simple cartilaginous choristoma with a unique pigmented multicystic component. CASE DESCRIPTION: A 69-year-old African American female presented for evaluation of a right nasal epibulbar lesion that had progressed over the prior year. Slit-lamp evaluation revealed an immobile, mildly pigmented multicystic lesion measuring 6.0 × 4.5 mm that involved the nasal bulbar conjunctiva and the plica semilunaris. The lesion appeared benign, without feeder vessels or features of epithelial dysplasia. Given its recent growth and the patient's cosmetic concerns, the lesion was excised with ocular surface reconstruction. Histopathological evaluation disclosed a well-circumscribed nodule of well-differentiated cartilage in the substantia propria, consistent with a simple cartilaginous choristoma. The overlying conjunctival stroma contained multiple cysts lined by focally pigment epithelium. The patient recovered well from surgery, with satisfactory cosmetic results. CONCLUSIONS: Our case of epibulbar simple cartilaginous choristoma includes a prominent superficial component of pigmented epithelial cysts, which has not been previously reported in the literature. This augments our knowledge on the spectrum of presentations of cartilaginous choristomas and underscores the importance of histopathological evaluation for definitive diagnosis.

Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies: A Description of a New Imaging Sign.

PURPOSE: To evaluate the imaging and clinical features of unusual calcified lesions seen in the fundus of patients with mosaic RASopathy. DESIGN: Single-center retrospective observational study. SUBJECTS: Ten eyes with calcified fundus lesions in 7 patients with mosaic RASopathy. METHODS: The lesions were evaluated with fundus photography, oral fundus fluorescein angiography, B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT) scan where available. MAIN OUTCOME MEASURES: The imaging characteristics of calcified fundus lesions were assessed. RESULTS: We found 7 patients with mosaic RASopathies, 5 men and 2 women (3 with linear sebaceous nevus syndrome, 3 with oculoectodermal syndrome, and 1 with encephalocraniocutaneous lipomatosis) with molecular confirmation in 5 cases, all 5 having KRAS-pathogenic variants. Calcified fundus lesions were identified in 10 eyes (bilateral in 3 patients), appearing as slightly elevated, creamy-yellow lesions around or adjacent to the optic nerve, extending supero-nasally; all but 2 of these lesions involved both the choroid and sclera, with 2 of them only involving the sclera at the time of examination. One case developed a choroidal neovascular membrane necessitating intravitreal bevacizumab injections. All 7 patients had B-scan ultrasonography, and the lesion appeared as a hyperechogenic area with an acoustic shadow posteriorly despite reduced gain. Five patients had MRI, and where fundus lesions were present, there was a focal defect in the sclero-choroidal layer. Four patients had a CT scan, and all 4 showed calcifications affecting both the posteromedial sclero-choroid and adjacent medial rectus muscle. Two of these patients had normal eye movements, 1 had a unilateral fixed adducted eye and a vestigial fibrous medial rectus muscle seen in imaging and intraoperatively, and the fourth had marked exotropia with a right gaze deficit affecting both eyes. CONCLUSIONS: We propose that the lesions seen in this cohort are calcified sclero-choroidal choristomas and should be suspected in mosaic RASopathies when creamy-yellow lesions are seen in the fundus. If identified, the possibility of choroidal neovascularization should be considered during follow-up. In all cases where a CT scan was performed, a novel sign of sclero-muscular calcification involving the medial rectus muscle was seen. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Bilateral accessory axillary breast tissue in a premenarchal female.

A 9-year-old premenarchal female presented to pediatric dermatology with a 6-month history of periodically tender, bilateral and symmetric axillary masses. Magnetic resonance imaging and subsequent surgical excision confirmed the diagnosis of bilateral accessory axillary breast tissue. Accessory axillary breast tissue is a rare condition seen most in pubertal, pregnant and breastfeeding women. However, it can arise in pre-adolescent patients and should be added to the differential diagnosis of an axillary mass.

Jejunal perforation and septic abdomen resulting from a choristoma in a dog.

A 4.6-year-old spayed female German shepherd dog was admitted to a specialty hospital emergency service upon referral for suspected gastrointestinal foreign body obstruction. Free abdominal fluid was collected, and results of cytologic evaluation were consistent with a septic abdomen. An abdominal barium study revealed free gas and intraperitoneal barium, along with an obstructive gas pattern within the small bowel. Ultrasonography revealed a full-thickness jejunal perforation. On exploratory laparotomy, the perforation was noted to be located mid-jejunum with no associated mass or foreign material. A resection and anastomosis were completed. Histopathologic evaluation of the affected jejunal tissue showed aberrant gastric glandular epithelium consistent with a gastric choristoma, or heterotopic gastric tissue. Key clinical message: Clinicians should consider gastric glandular choristoma as a differential diagnosis in cases of seemingly idiopathic small intestinal perforation with no known cause (i.e., foreign body penetration, neoplasia, NSAID use), and histopathologic evaluation should always be done to obtain a definitive diagnosis.

Perforation jéjunale et abdomen septique résultant d'un choristome chez un chien. Une chienne berger allemand stérilisée âgée de 4,6 ans a été admise dans le service d'urgence d'un hôpital spécialisé après avoir été référée pour une suspicion d'obstruction gastro-intestinale par un corps étranger. Du liquide abdominal libre a été prélevé et les résultats de l'évaluation cytologique étaient compatibles avec un abdomen septique. Un examen abdominal à l'aide de baryum a révélé du gaz libre et du baryum intrapéritonéal, ainsi qu'un patron de gaz obstructif dans l'intestin grêle. L'échographie a révélé une perforation sur toute l'épaisseur jéjunale. Lors d'une laparotomie exploratoire, il a été constaté que la perforation était située au milieu du jéjunum, sans masse ni corps étranger associé. Une résection et une anastomose ont été réalisées. L'évaluation histopathologique du tissu jéjunal affecté a montré un épithélium glandulaire gastrique aberrant compatible avec un choristome gastrique ou un tissu gastrique hétérotopique.Message clinique clé :Les cliniciens doivent considérer le choristome glandulaire gastrique comme diagnostic différentiel dans les cas de perforation de l'intestin grêle apparemment idiopathique sans cause connue (i.e. pénétration d'un corps étranger, néoplasie, utilisation d'AINS), et une évaluation histopathologique doit toujours être effectuée pour obtenir un diagnostic définitif.(Traduit par Dr Serge Messier).