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.

Ectopic cervical thymoma in myasthenia gravis: a case report.

BACKGROUND: Ectopic cervical thymoma (ECT) is an extremely rare tumor, especially in association with myasthenia gravis (MG). CASE PRESENTATION: We report a case of myasthenia gravis with an ectopic thymoma in the neck, whose myasthenic symptoms significantly improved after complete removal of the mass. A 55-year-old woman with generalized myasthenia gravis (MG) experienced worsening neuromuscular weakness after abruptly discontinuing pyridostigmine. Testing revealed acetylcholine receptor-antibody (AChR-Ab) positivity and a cervical mass initially thought to be thyroid or parathyroid was identified as a thymoma, type A. Post-surgery and radiation therapy, her myasthenic symptoms improved significantly with less prednisone and pyridostigmine requirements over time and no need for additional immunotherapies. CONCLUSIONS: Diagnosing ECTs is challenging due to rarity, atypical locations, and inconclusive fine needle aspiration cytology (FNAC) results, often misinterpreted as thyroid or parathyroid lesions. As proper management of patients with MG, including thymectomy, offers favorable clinical outcomes such as significant improvement in myasthenic complaints and reduced immunosuppressive medication requirements, clinicians should be vigilant of the ectopic locations of thymomas to ensure timely diagnosis and intervention.

The value of ultrasound in combination with 99mTc-MIBI imaging department of ultrasound medicine, for the diagnosis of ectopic parathyroid glands in the thyroid gland in patients with secondary hyperparathyroidism.

To investigate the value of preoperative ultrasound combined with 99mTc-MIBI imaging for the diagnosis of ectopic intrathyroid parathyroid gland (ETPG) in patients with secondary hyperparathyroidism (SHPT). One hundred and eleven patients with SHPT who underwent total parathyroidectomy plus forearm transplantation from January 2015 to January 2022 in the Third Hospital of Hebei Medical University were selected. All patients underwent routine preoperative ultrasonography and 99mTc-MIBI imaging, and with pathological diagnosis as the gold standard, the clinical data of ETPG patients were selected, including clinical manifestations, laboratory tests, preoperative ultrasonography and 99mTc-MIBI imaging for localization and diagnosis, intraoperative exploration and postoperative pathology, and postoperative follow-up. To analyze the ultrasound manifestations of preoperative parathyroid hyperplasia and the results of 99mTc-MIBI imaging in patients with ETPG. Among 111 patients with SHPT, there were 5 patients with ETPG, 1 male and 4 females with a mean age of (45.00 ±â€…5.05) years, and 6 ectopic parathyroid glands were located in the thyroid gland. The incidence of ETPG was 4.5% (5/111), 4 were detected by ultrasound, 2 were not detected with a diagnostic accuracy of 66.7% (4/6), 3 were positive for 99mTc-MIBI imaging, 3 were negative with a diagnostic accuracy of 50.0% (3/6). Among them, one was not detected by ultrasound, but was positive for 99mTc-MIBI imaging, 2 with negative 99mTc-MIBI imaging, but all were detected by ultrasound, and one with negative 99mTc-MIBI imaging was detected by ultrasound but misdiagnosed as a thyroid nodule. A total of 5 ETPGs were detected by ultrasound combined with 99mTc-MIBI imaging, with a diagnostic accuracy of 83.3% (5/6). Patients' postoperative serum calcium and serum parathyroid hormone (PTH) levels were normalized or significantly decreased from preoperative levels. Ultrasound combined with 99mTc-MIBI imaging can achieve higher accuracy than either examination alone in the preoperative localization and diagnosis of ETPG in SHPT patients.

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).

Neuromuscular choristoma and circumferential nerve territory desmoid-type fibromatosis: imaging findings supporting a nerve-driven mechanism.

OBJECTIVE: Neuromuscular choristoma (NMC) is a rare developmental malformation of peripheral nerve that is frequently associated with the development of a desmoid-type fibromatosis (DTF). Both NMC and NMC-DTF typically contain pathogenic CTNNB1 mutations and NMC-DTF develop only within the NMC-affected nerve territory. The authors aimed to determine if there is a nerve-driven mechanism involved in the formation of NMC-DTF from the underlying NMC-affected nerve. METHODS: Retrospective review was performed for patients evaluated in the authors' institution with a diagnosis of NMC-DTF in the sciatic nerve (or lumbosacral plexus). MRI and FDG PET/CT studies were reviewed to determine the specific relationship and configuration of NMC and DTF lesions along the sciatic nerve. RESULTS: Ten patients were identified with sciatic nerve NMC and NMC-DTF involving the lumbosacral plexus, sciatic nerve, or sciatic nerve branches. All primary NMC-DTF lesions were located in the sciatic nerve territory. Eight cases of NMC-DTF demonstrated circumferential encasement of the sciatic nerve, and one abutted the sciatic nerve. One patient had a primary DTF remote from the sciatic nerve, but subsequently developed multifocal DTF within the NMC nerve territory, including 2 satellite DTFs that circumferentially encased the parent nerve. Five patients had a total of 8 satellite DTFs, 4 of which abutted the parent nerve and 3 that circumferentially involved the parent nerve. CONCLUSIONS: Based on clinical and radiological data, a novel mechanism of NMC-DTF development from soft tissues innervated by NMC-affected nerve segments is proposed, reflecting their shared molecular genetic alteration. The authors believe the DTF develops outward from the NMC in a radial fashion or it arises in the NMC and wraps around it as it grows. In either scenario, NMC-DTF develops directly from the nerve, likely arising from (myo)fibroblasts within the stromal microenvironment of the NMC and grows outward into the surrounding soft tissues. Clinical implications for patient diagnosis and treatment are presented based on the proposed pathogenetic mechanism.

How often are intrathyroidal parathyroid glands a cause of primary hyperparathyroidism, and how should they be managed?

BACKGROUND: The purpose of our study was to determine the frequency and management of intrathyroidal parathyroid glands in patients with primary hyperparathyroidism and evaluate whether intrathyroidal parathyroid glands were more often superior or inferior glands. METHODS: A retrospective review of the prospective parathyroid database was completed to determine the number of patients with primary hyperparathyroidism and an intrathyroidal parathyroid gland. Demographic data, laboratory and localization studies, operative management, pathology, and outcome were determined for patients with an intrathyroidal parathyroid gland and were compared with patients with an extrathyroidal parathyroid gland. RESULTS: From 1990-2023, 808 patients were operated on for primary hyperparathyroidism; 17 (2%) patients had an intrathyroidal parathyroid gland, an adenoma in 15 (88.2%), and a hyperplastic gland in 2 (11.8%). The mean age was 53 years; 16 (94%) patients were female. Mean calcium and parathyroid hormone was 12 mg/dL and 150 pg/mL, and there were no differences from the extrathyroidal parathyroid group. Ultrasound and Sestamibi imaging were valuable in identifying an intrathyroidal parathyroid gland in 10 of 13 patients and 13 of 17 patients, respectively. Local excision was performed in 9 (53%) patients and lobectomy in 8 (47%) patients. Intraoperative parathyroid hormone was measured and predictive of cure in 12 patients. The location of intrathyroidal parathyroid glands was determined in 15 patients and was inferior in 11 (73%). All patients were cured. No patient developed recurrent disease after a median 54-month follow-up. CONCLUSION: Intrathyroidal parathyroid glands are the cause of primary hyperparathyroidism in 2% of patients and are most often inferior glands. Local excision was accomplished in 53% of our patients.

Massive mature cystic teratoma of the head and neck, masquerading as a glial choristoma, causing respiratory compromise of a neonate.

Glial choristoma of the head and neck is a rare, benign congenital malformation consisting of a mass of heterotopic glial cells. In cases involving the upper aerodigestive tract, this can present with upper airway obstruction. In the acute setting, this can lead to diagnostic challenges due to the broad differential, as well as the additional difficulties in obtaining appropriate imaging and tissue samples due to the potential risk of airway compromise. We present a case of a neonate born with a large heterogenous mass involving the upper aerodigestive tract and multiple deep neck spaces which resulted in upper airway compromise requiring emergency surgical intervention in the form of a paediatric tracheostomy. We will discuss the histological findings which initially suggested a glial choristoma, work-up and treatment of this patient with the aim of supplementing the limited existing clinical knowledge of this congenital anomaly and understanding the implications of a paediatric tracheostomy in our setting.

Cystic dystrophy in heterotopic pancreas.

Cystic dystrophy in heterotopic pancreas, or paraduodenal pancreatitis, is a rare and complicated presentation involving heterotopic pancreatic tissue in the duodenal wall. This condition is present in 5% of the general population but disease mainly affects middle-aged alcoholic-smoking men with chronic pancreatitis (CP). It may be purely duodenal or segmental (pancreatico-duodenopathy). Its pathophysiology arises from alcohol toxicity with obstruction of small ducts of heterotopic pancreatic tissue present in the duodenal wall and the pancreatic-duodenal sulcus, leading to repeated episodes of pancreatitis. The symptomatology includes episodes of acute pancreatitis, weight loss, and vomiting due to duodenal obstruction. Imaging shows thickening of the wall of the second portion of the duodenum with multiple small cysts. A stepwise therapeutic approach is preferred. Conservative medical treatment is favored in first intention (analgesics, continuous enteral feeding, somatostatin analogues), which allows complete symptomatic regression in 57% of cases associated with a 5% rate of complications (arterial thrombosis and diabetes). Endoscopic treatment may also be associated with conservative measures. Surgery achieves a complete regression of symptoms in 79% of cases but with a 20% rate of complications. Surgery is indicated in case of therapeutic failure or in case of doubt about a malignant tumor. Pancreaticoduodenectomy and duodenal resection with pancreatic preservation (PPDR) seem to be the most effective treatments. PPDR has also been proposed as a first-line treatment for purely duodenal location of paraduodenal pancreatitis, thereby preventing progression to an extended segmental form.

Unilateral Anophthalmia and Congenital Frontal Cranioschisis Associated with Extradural Neuroglial Heterotopia: new Insights into a Possible New Malformative Spectrum.

Background: Neuroglial heterotopia, characterized by mature -neuroglial tissue outside the central nervous system, has not been previously associated with cranioschisis. Case Report: A 4-year-old female patient, with left congenital anophthalmia, had a nasofrontal neuroglial heterotopia protruding through an ossification defect. Discussion: Nasofrontal cranioschisis may be associated with neuroglial heterotopias. The combination of anophthalmia and neuroglial heterotopia, previously described only once in the literature, may be part of a broader malformation spectrum that has not been properly characterized to date.

Magnetic resonance imaging features of isolated periventricular heterotopia in pediatric epilepsy: a comparative study

Objective: Periventricular nodular heterotopia is a neurodevelopmental disorder in which neurons fail to migrate to the cortical surface, forming discrete areas of grey matter adjacent to the lateral ventricles. Given that periventricular nodular heterotopia is seen as an incidental finding in patients without epilepsy, causality between periventricular nodular heterotopia and epilepsy cannot be assumed. Furthermore, the structural characteristics of periventricular nodular heterotopia in patients with epilepsy are poorly defined and can be misleading. In this article, we investigate whether structural radiological characteristics of heterotopia can predict epileptogenicity in pediatric patients. Methods: Pediatric patients with periventricular nodular heterotopia, but no other epilepsy-associated cortical abnormalities on magnetic resonance imaging, were identified and divided into two groups: with epilepsy and without epilepsy. Radiological characteristics of laterality, regionalization, largest dimension and number of nodules were compared between the two groups. Results: Only periventricular nodular heterotopia spreading across several regions was associated with a statistically higher chance of epilepsy. Other features including laterality, individual region, number and largest dimension did not reliably predict epileptogenicity. Significance: Most radiological characteristics of periventricular nodular heterotopia are similar in patients with and without epilepsy. The involvement of multiple periventricular regions with heterotopia was the only feature that inferred a higher risk of epilepsy. Periventricular nodular heterotopia requires a comprehensive work-up and should be interpreted in the context of each individual patient and not assumed to be directly causative of epilepsy, nor unrelated to it. Therefore, further studies using additional structural and functional imaging modalities are needed to determine the radiological features of epileptogenic periventricular nodular heterotopia.

Single-cell analysis of endometriosis reveals a coordinated transcriptional programme driving immunotolerance and angiogenesis across eutopic and ectopic tissues.

Endometriosis is characterized by the growth of endometrial-like tissue outside the uterus. It affects many women during their reproductive age, causing years of pelvic pain and potential infertility. Its pathophysiology remains largely unknown, which limits early diagnosis and treatment. We characterized peritoneal and ovarian lesions at single-cell transcriptome resolution and compared them to matched eutopic endometrium, unaffected endometrium and organoids derived from these tissues, generating data on over 122,000 cells across 14 individuals. We spatially localized many of the cell types using imaging mass cytometry. We identify a perivascular mural cell specific to the peritoneal lesions, with dual roles in angiogenesis promotion and immune cell trafficking. We define an immunotolerant peritoneal niche, fundamental differences in eutopic endometrium and between lesion microenvironments and an unreported progenitor-like epithelial cell subpopulation. Altogether, this study provides a holistic view of the endometriosis microenvironment that represents a comprehensive cell atlas of the disease in individuals undergoing hormonal treatment, providing essential information for future therapeutics and diagnostics.

[Ectopic thyroid gland: clinical features and diagnostics in children].

BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia. AIM: To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue. MATERIALS AND METHODS: A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel. RESULTS: The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of  children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia - 219 IU/ml, p<0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia - 37.12 ng/ml versus 0.82 ng/ml, p><0.05. CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH - ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment. ><0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia - 37.12 ng/ml versus 0.82 ng/ml, p< 0.05. CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH - ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment.

Clinical features and ultrasound findings of a rare musculoskeletal system disease-neuromuscular choristoma.

BACKGROUND: Neuromuscular choristomas (NMCs), are extremely rare developmental lesions that, have been previously established associated with recurrent fibromatosis after surgery, leading to several operations or even amputation. However, reports on the ultrasound imaging features and clinical conditions of NMCs are rare. The purpose of this study is to describe the ultrasound features and clinical analysis of NMCs to provide suggestions to identify the optimal management strategy. METHODS: From September 2020 to September 2021, 7 patients with a confirmed diagnosis of NMC who underwent ultrasound examination in our department were enrolled in our study. Physical examinations were performed to detect motor deficits, sensory deficits, neuropathic pain, limb undergrowth, muscular atrophy, cavus foot and bone dysplasia. Ultrasound imaging was performed and investigated both in affected nerves and neuromuscular choristomas associated desmoid-type fibromatosis (NMC-DTF). All patients had a definite history and regular follow-up. The clinical course, physical examinations, ultrasound features and pathologic results of NMC patients were analyzed. RESULTS: Seven patients with an average age of 7.0 ± 7.2 years (range: 2-22 years) were enrolled in our study. The affected nerves included the sciatic nerve (6 cases) and the brachial plexus (1 case). Six patients (85.7%) presented with limb undergrowth, 6 (85.7%) with muscular atrophy, and 5 (71.4%) with cavus foot deformity. Based on ultrasound findings, all the visibly affected nerve segments presented with hypoechoic and fusiform enlargement with intraneural skeletal muscle elements. Five patients (71.4%) had NMC-DTFs at the site of the affected nerve. All NMC-DTFs were shown as hypoechoic solid lesions adjacent to the nerve and were well circumscribed. In the subset of the surgery group, all 5 patients presented with progression to NMC-DTFs at the site of the NMCs. No fibromatosis was detected in the other two nonsurgical patients. CONCLUSIONS: Understanding the typical ultrasound features and clinically associated conditions would support the early diagnosis of this rare disease. When a potential diagnosis is determined, an invasive procedure such as biopsy or resection might not be a good choice given the frequent occurrence of complications such as aggressive recurrence.

Malignant transformation of heterotopic pancreas as middle esophagus adenocarcinoma-A rare case report and comprehensive literature review.

Heterotopic pancreas is a rare congenital abnormality that occurs during the growth and development process. It can be found in any part of the digestive tract, but the most common sites are the stomach, duodenum, and jejunum. Malignant transformation especially in the esophagus is rare. Here, we aim to report an unusual case of mid-esophageal adenocarcinoma that originated from a heterotopic pancreas.

Heterotopic Gastric Mucosa in Middle Esophagus Complicated with Esophageal Ulcers.

Heterotopic gastric mucosa (HGM) of esophagus, primarily occurring in cervical esophagus, is usually asymptomatic. A healthy woman (mid-40s) with postprandial heartburn was diagnosed with middle esophageal HGM and esophageal ulcers by esophagogastroduodenoscopy. Using 8-channel pH monitoring, a sensor near the HGM area detected postprandial acid phase (pH 3-4), while areas adjacent to the proximal and distal sensors were neutral, suggesting acid secretion from the HGM. A biopsy showed fundic gland tissue expressing H+/K+-ATPase and pepsinogen-I. Oral vonoprazan improved the clinical symptoms and endoscopic findings. This is the first report using 8-channel pH monitoring to diagnose extremely rare middle esophageal HGM.