Evaluation and Treatment of Patients with Small Posterior Cranial Fossa and Chiari Malformation, Types 0 and 1.

The diagnosis of Chiari I malformation is straightforward in patients with typical signs and symptoms of Chiari I malformation and magnetic resonance imaging (MRI) confirming ≥5 mm of cerebellar tonsillar ectopia, with or without a syrinx. However, in many cases, Chiari I malformation is discovered incidentally on MRI to evaluate global headache, cervical radiculopathy, or other conditions. In those cases, the clinician must consider if cerebellar tonsillar ectopia is related to the presenting symptoms. Surgical decompression of the cerebellar tonsils and foramen magnum in patients with symptomatic Chiari I malformation effectively relieves suboccipital headache, reduces syrinx distension, and arrests syringomyelia progression. Neurosurgeons must avoid operative treatments decompressing incidental tonsillar ectopia, not causing symptoms. Such procedures unnecessarily place patients at risk of operative complications and tissue injuries related to surgical exploration. This chapter reviews the typical signs and symptoms of Chiari I malformation and its variant, Chiari 0 malformation, which has <5 mm of cerebellar tonsillar ectopia and is often associated with syringomyelia. Chiari I and Chiari 0 malformations are associated with incomplete occipital bone development, reduced volume and height of the posterior fossa, tonsillar ectopia, and compression of the neural elements and cerebrospinal fluid (CSF) pathways at the foramen magnum. Linear, angular, cross-sectional area, and volume measurements of the posterior fossa, craniocervical junction, and upper cervical spine identify morphometric abnormalities in Chiari I and Chiari 0 malformation patients. Chiari 0 patients respond like Chiari I patients to foramen magnum decompression and should not be excluded from surgical treatment because their tonsillar ectopia is <5 mm. The authors recommend the adoption of diagnostic criteria for Chiari 0 malformation without syringomyelia. This chapter provides updated information and guidance to the physicians managing Chiari I and Chiari 0 malformation patients and neuroscientists interested in Chiari malformations.

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.

Dystrophic Calcification in a 3-Piece Silicone Intraocular Lens.

This case report describes a diagnosis of dystrophic calcification of a silicone intraocular lens implant in a patient who presented with foggy vision and glare.

Bilateral choroidal osteoma: long-term follow-up of secondary choroidal neovascularization in a child using antiangiogenic therapy.

Choroidal osteoma is a rare condition, and its treatment is not well established, especially in the pediatric population, where use of antiangiogenics for choroidal neovascularization is poorly studied. Few studies have reported the long-term follow-up of pediatric patients with bilateral choroidal osteomas. We report the case of a girl who was diagnosed at the age of 3, with the appearance of bilateral secondary choroidal neovascularization, and has been under strict observation for 12 years. The effectiveness of antiangiogenic agents as a long-term therapeutic option for secondary choroidal neovascularization in pediatric patients with symptomatic choroidal osteomas is discussed.

Recurrent ectopic primary breast adenocarcinoma of the vulva with a 19-year follow-up period.

We present a case of an ectopic breast adenocarcinoma of the vulva with metastatic local recurrence and a total follow-up period of 19 years, the longest documented in the literature to our knowledge. Following surgical excision, radiation therapy and hormonal treatment after the recurrence, the patient has remained disease free. This case demonstrates the potential for malignant transformation in accessory breast tissue and highlights the importance of close surveillance and regular physical examinations in patients with a history of ectopic breast malignancy.

Brain tissue heterotopic in the adrenal gland in a child: a scarce case report.

Heterotopic brain tissue is rare and has not been reported. Our center made the first report. 4 years and 2 months old Girl presented with a cystic mass in the right adrenal gland 2 weeks after right upper abdominal pain. The operation was successful, and the diagnosis was confirmed by postoperative pathology. 6 months after the procedure, the incision healed well without recurrence. This case report has a detailed diagnosis and treatment process and satisfactory examination results. It can provide a reference for diagnosing and treating clinical HBT and reduce the risk of misdiagnosis and mistreatment.

Ectopic Breast Cancer Arising within an Axillary Lymph Node.

We report our experience with the diagnosis and treatment of an ectopic breast cancer arising within an axillary lymph node. The patient was a 65-year-old woman diagnosed breast cancer and axillary lymph node metastasis. We performed a partial mastectomy and axillary lymph node dissection. Postoperative pathology revealed no malignant lesions in the breast; however, a nodule in one of axillary lymph nodes had mixed benign and malignant components, leading to a diagnosis of invasive ductal carcinoma derived from ectopic mammary tissue. This case represents a very rare form of breast cancer, and the malignancy was difficult to distinguish from metastasis.

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).

Mechanical stiffness promotes skin fibrosis via Piezo1-Wnt2/Wnt11-CCL24 positive feedback loop.

Skin fibrosis is characterized by the excessive accumulation of extracellular matrix (ECM) caused by fibrotic disorders of the skin. In recent years, ECM stiffness has emerged as a prominent mechanical cue that precedes skin fibrosis and drives its progression by promoting fibroblasts activation. However, how stiffness influences fibroblasts activation for skin fibrosis progression remains unknown. Here, we report a positive feedback loop mediated by the mechanosensitive ion channel Piezo1 and aberrant tissue mechanics in driving skin fibrosis. Piezo1 is upregulated in fibrotic skin in both humans and mice. Piezo1 knockdown dermal fibroblasts lose their fibroproliferative phenotypes despite being grown on a stiffer substrate. We show that Piezo1 acts through the Wnt2/Wnt11 pathway to mechanically induce secretion of C-C motif chemokine ligand 24 (CCL24, also known as eotaxin-2), a potent cytokine associated with fibrotic disorders. Importantly, adeno-associated virus (AAV)-mediated Piezo1 knockdown ameliorated the progression of skin fibrosis and skin stiffness in mice. Overall, increased matrix stiffness promotes skin fibrosis through the inflammatory Piezo1-Wnt2/Wnt11-CCL24 pathway. In turn, a stiffer skin microenvironment increases Piezo1 expression to exacerbate skin fibrosis aggression. Therefore, targeting Piezo1 represents a strategy to break the positive feedback loop between fibroblasts mechanotransduction and aberrant tissue mechanics in skin fibrosis.

Meckel's diverticulum mimicking acute appendicitis in children: a retrospective cohort study.

BACKGROUND: The aims of this study were to summarize the clinical presentation and histological results of 20 cases of complicated Meckel diverticulum (MD) who were presumed to have acute appendicitis before surgery, as well as to improve the diagnosis and treatment of complicated MD in children. MATERIALS AND METHODS: We retrospectively reviewed the records of 20 complicated MD admitted to our institution who were preoperatively diagnosed with acute appendicitis from January 2012 to January 2019. Patients were divided into the perforated MD group and the Meckel's diverticulitis group. Patient demographics, clinical manifestations, laboratory data, auxiliary examinations, surgical methods, and the result of heterotopic tissue were recorded. RESULTS: A total of 20 cases of complicated MD (perforated or diverticulitis) were identified. Children were aged from 3 to 13 years, with a mean age of 7.75 years (median 7.75; range, 1-13 years). Perforated Meckel's diverticulum occurred in 5 of 20 (25%) cases. For perforated MD versus diverticulitis, no significant differences were found between age, time to intervention, length of hospital stay, and distance from the ileo-cecal valve. Heterotopic tissue was confirmed on histopathology in 75% of all patients, including 10 cases of gastric mucosa, 3 cases of coexistent gastric mucosa and pancreatic tissue, and 2 cases of pancreatic tissue. All patients underwent diverticulectomy or partial ileal resection under laparoscopy or laparotomy; two cases combined with appendectomy owing to slight inflammation of the appendix. CONCLUSIONS: The most common presentation of symptomatic MD is painless rectal bleeding; however, it can present symptoms of acute abdomen mimicking acute appendicitis. The key point of diverticulectomy is to remove the ectopic mucosa completely.

RAF1-rearranged Spindle Cell Mesenchymal Tumor With Calcification and Heterotopic Ossification: A Case Report and Review of Literature.

We report an exceptional case of a spindle cell mesenchymal tumor with S100 and CD34 co-reactivity, which harbored a SLMAP::RAF1 fusion. To the best of our knowledge, this is the second case of a spindle cell mesenchymal tumor with S100 and CD34 co-reactivity with this specific fusion. Remarkable is the presence of calcification and heterotopic ossification in the center of our lesion, a feature that, to our knowledge, has not been described yet in RAF1-rearranged spindle cell mesenchymal tumors.

Gastric type III heterotopic pancreas presenting as adenomyoma in the antrum of the stomach: a case report.

Although heterotopic pancreas usually occurs in the stomach and rarely presents as a submucosal tumor, an accurate preoperative diagnosis is often difficult because of the variety of clinical symptoms and findings depending on the size and location of the lesion. We experienced a case of gastric type III heterotopic pancreas presenting as a gastric adenomyoma in the antrum of the stomach. A 62-year-old woman visited a local hospital for epigastric discomfort. An esophagogastroduodenoscopy study indicated a submucosal tumor in the greater curvature of the gastric antrum. The patient underwent surgical resection of the tumor because it was enlarged. The histological sections of the resected specimen showed that the tumor was composed of ductular structures lined by tall columnar epithelia and a prominent smooth muscle stroma with no atypical cells. The tumor was compatible with Heinrich's type III heterotopic pancreas, which presented as an adenomyoma of the stomach. These findings provide useful histological features and some insight into a better understanding of the embryonic origin and development of adenomyoma and heterotopic pancreas in the antrum of the stomach.

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.