RESUMEN
CASE: This case demonstrates a 2-year-old boy with a rare benign supraclavicular mass diagnosed as neuromuscular choristoma through open biopsy. Postoperatively, he underwent semiannual surveillance with ultrasound without development of neurological complaints, limb deformity, or recurrence at 2-year follow-up. CONCLUSION: Neuromuscular choristoma involving the brachial plexus is a rare tumor that should be in the differential diagnosis of pediatric peripheral nerve-based tumors. The intimate association with neural elements limits complete resection. Therefore, open biopsy with partial resection is recommended. While postoperative fibromatosis may occur, open biopsy remains the gold standard for definitive diagnosis. Ultrasound can be used to monitor recurrence.
Asunto(s)
Plexo Braquial , Coristoma , Humanos , Masculino , Preescolar , Coristoma/diagnóstico por imagen , Coristoma/cirugía , Coristoma/patología , Plexo Braquial/diagnóstico por imagen , Plexo Braquial/patología , Ultrasonografía , Neoplasias del Sistema Nervioso Periférico/diagnóstico por imagen , Neoplasias del Sistema Nervioso Periférico/cirugía , Neoplasias del Sistema Nervioso Periférico/patologíaRESUMEN
Primary hyperparathyroidism (PHPT) is the most prevalent cause of hypercalcaemia, affecting 0.3% of the population. The only curative procedure is parathyroidectomy. Ectopic adenomas are challenging to localize and frequently result in persistent PHPT. This is a case report of a 29-year-old male patient who was diagnosed with PHPT prior to neck surgery and reoperated with bilateral neck exploration. However, the PHPT was not cured, until diagnostic CT with contrast had helped localizing a 1 cm ectopic parathyroid adenoma in the right horn of the thymus gland. The adenoma was then removed successfully.
Asunto(s)
Adenoma , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Tomografía Computarizada por Rayos X , Humanos , Masculino , Adulto , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/patología , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Adenoma/patología , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/diagnóstico por imagen , Hiperparatiroidismo Primario/etiología , Coristoma/diagnóstico por imagen , Coristoma/cirugía , Coristoma/patología , ParatiroidectomíaRESUMEN
Ectopic pancreas, also known as heterotopic pancreas, is a rare condition in which the pancreatic tissue is found outside its usual location in the gastrointestinal (GI) tract. It is commonly asymptomatic and benign, and is often discovered incidentally during routine imaging, endoscopy, surgery, or autopsy. However, complications can arise, such as inflammation, bleeding, obstruction, or even malignant transformation, necessitating surgical intervention in some cases. Ectopic pancreas at the ampulla of Vater (EPAV) is an extremely rare condition and a diagnostic and therapeutic nightmare. Most cases have been diagnosed through invasive surgery due to concerns for malignancy, which carries significant morbidity and mortality. In our case, endoscopic snare papillectomy (ESP) was employed to establish a diagnosis. Thus far, only one other case has been reported in which ESP was used to diagnose and resect a pancreatic heterotopia at the ampulla.
Asunto(s)
Ampolla Hepatopancreática , Coristoma , Páncreas , Humanos , Ampolla Hepatopancreática/cirugía , Coristoma/cirugía , Coristoma/diagnóstico , Coristoma/patología , Femenino , Masculino , Persona de Mediana Edad , Colangiopancreatografia Retrógrada EndoscópicaRESUMEN
BACKGROUND: Heterotopic gastric mucosa (HGM) can be located in various parts of the gastrointestinal tract. As a rare anomaly in the small intestine, it can become complicated by intussusception, obstruction, gastrointestinal bleeding, and even peritonitis, leading to death. CASE PRESENTATION: This case report focuses on a 12-year-old Middle Eastern boy who presented with hematochezia and abdominal pain for a couple of days. A tagged Red blood cell (RBC) scan and Technetium scan revealed gastrointestinal bleeding at the lower abdomen, highly suggestive of the diagnosis of Meckel's diverticulum. Subsequently, exploratory laparotomy revealed contiguous and scattered mucosal lesions with multiple polyps of various sizes in the terminal ileum. Meckel's diverticulum was absent, and the patient was treated with resection and primary anastomosis. The resected tissue revealed extensive ectopic gastric mucosa and polypoid tissues. The patient recovered uneventfully and was discharged four days after the surgery. The symptoms did not recur within six months after his surgery. CONCLUSION: Our case demonstrated that despite the rarity of multiple polypoid gastric heterotopias in the terminal ileum, it should be considered as one of the differential diagnoses of gastrointestinal tract bleeding.
Asunto(s)
Coristoma , Mucosa Gástrica , Hemorragia Gastrointestinal , Divertículo Ileal , Humanos , Masculino , Hemorragia Gastrointestinal/etiología , Mucosa Gástrica/patología , Coristoma/complicaciones , Coristoma/cirugía , Coristoma/patología , Divertículo Ileal/complicaciones , Divertículo Ileal/cirugía , Niño , Enfermedades del Íleon/cirugía , Enfermedades del Íleon/etiología , Diagnóstico Diferencial , Íleon/patología , Íleon/cirugía , Íleon/diagnóstico por imagen , Dolor Abdominal/etiología , Resultado del TratamientoRESUMEN
Middle-ear salivary gland choristoma (SGCh) is a rare, benign tumor that causes conductive hearing loss owing to middle-ear morphological abnormalities. Early diagnosis is challenging, and surgical resection is indispensable for a definitive diagnosis. We report the case of a 3-year-old boy diagnosed with middle-ear SGCh during the follow-up period for left-sided hearing loss discovered at newborn hearing screening (NHS). Long-term follow-up after the NHS result, subsequent computed tomography/magnetic resonance imaging, and surgical resection led to its relatively early diagnosis and treatment.
Asunto(s)
Coristoma , Glándulas Salivales , Humanos , Masculino , Coristoma/patología , Coristoma/complicaciones , Coristoma/diagnóstico por imagen , Coristoma/cirugía , Preescolar , Glándulas Salivales/patología , Glándulas Salivales/diagnóstico por imagen , Oído Medio/diagnóstico por imagen , Oído Medio/patología , Pérdida Auditiva Unilateral/etiología , Pérdida Auditiva Unilateral/congénito , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos XRESUMEN
Objective: To investigate the clinicopathological and genetic characteristics of neuromuscular choristoma-associated desmoid type fibromatosis (NMC-DF). Methods: The clinical morphological and immunohistochemical features of 7 NMC-DF cases diagnosed from January 2013 to January 2023 in Beijing Jishuitan Hospital were retrospectively analyzed. A series of neuromuscular choristoma and neuromuscular choristoma-associated desmoid type fibromatosis were evaluated for CTNNB1 mutations, and hotspot mutations for CTNNB1 were tested in 4 NMC-DF cases using Sanger sequencing. Results: The tumors were collected from 3 females and 4 males, aged 1 to 22 years (mean 7.1 years), involving the sciatic nerve (n=4), brachial plexus (n=2) or multiple nerves (n=1). The course of the disease spanned from 3 months to 10 years. Two cases were recurrent tumors. All the 7 NMC cases showed endoneurial intercalation of mature skeletal muscle fibers among the peripheral nerve fascicles, and the histologic features of the NMC-DF were strikingly similar to the conventional desmoid-type fibromatosis. By immunohistochemistry, all NMC and NMC-DF cases showed aberrant nuclear staining of ß-catenin (7/7), the muscle cells in NMC were intensely immunoreactive for desmin, and the admixed nerve fibers were highlighted by NF and S-100 (7/7). Four NMC and NMC-DF had CTNNB1 mutations, 3 c.121A>G (p.T41A) and 1 c.134C>T (p.S45F). Follow-up of the 7 cases, ranging from 22 to 78 months, showed tumor recurrence in 2 patients at 3 and 8 months respectively after the first surgical resection, of which 1 patient underwent above-knee amputation. No recurrence occurred in other cases with tumor excision and neurological reconstruction surgery. There was no metastasis occurred in the 7 cases. Conclusions: NMC is a rare congenital lesion with differentiated mature skeletal muscle tissue found in peripheral nerve fascicles, and approximately 80% of patients with NMC develop a soft tissue fibromatosis. CTNNB1 mutation in the Wnt signaling pathway may be involved in the pathogenesis of NMC and NMC-DF, and S45F mutations seems to have a higher risk of disease progression.
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Coristoma , Fibromatosis Agresiva , Mutación , beta Catenina , Humanos , beta Catenina/genética , beta Catenina/metabolismo , Fibromatosis Agresiva/genética , Fibromatosis Agresiva/patología , Fibromatosis Agresiva/metabolismo , Fibromatosis Agresiva/cirugía , Masculino , Femenino , Niño , Estudios Retrospectivos , Lactante , Adolescente , Preescolar , Coristoma/patología , Coristoma/genética , Adulto Joven , Plexo Braquial/patología , Plexo Braquial/cirugía , Nervio Ciático/patologíaRESUMEN
The thymus derives from the third branchial pouch, which migrates to the mediastinum through the central region of the neck. During the migration, particles split off and develop separately. The prevalence of ectopic thymus is 20-40%. The purpose of this retrospective case series study was to investigate the prevalence of embryological tissue remnants in the central region, in patients treated for thyroid lesions. Between January 1 2018 and September 1 2020, 84 patients who underwent central neck dissection were selected. Clinicopathological data as age, gender, histopathological result and TNM stage were analyzed. Ectopic tissue in the central neck region was discovered in 28 cases. The prevalence of ectopic lesions showed increase in Stage I thyroid carcinomas. There was no significant correlation with patients' age, gender, or with the stage. We emphasize the clinicopathological role of ectopic tissues, which can occur in the central region of the neck.
Asunto(s)
Coristoma , Cuello , Neoplasias de la Tiroides , Humanos , Estudios Retrospectivos , Femenino , Masculino , Cuello/patología , Persona de Mediana Edad , Coristoma/patología , Coristoma/epidemiología , Adulto , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/epidemiología , Neoplasias de la Tiroides/cirugía , Hallazgos Incidentales , Timo/patología , Disección del Cuello , Anciano , Estadificación de NeoplasiasRESUMEN
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.
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Neumonectomía , Tomografía Computarizada por Rayos X , Humanos , Femenino , Adulto , Tomografía Computarizada por Rayos X/métodos , Neumonectomía/métodos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico , Pulmón/diagnóstico por imagen , Pulmón/patología , Pulmón/cirugía , Diagnóstico Diferencial , Embarazo , Enfermedades Pulmonares/cirugía , Enfermedades Pulmonares/patología , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/diagnóstico , Quistes/cirugía , Quistes/patología , Quistes/diagnóstico por imagen , Quistes/diagnóstico , Coristoma/cirugía , Coristoma/patología , Coristoma/diagnóstico , Coristoma/diagnóstico por imagen , Resultado del Tratamiento , Placenta/patología , Placenta/diagnóstico por imagenRESUMEN
When a neuroendocrine tumor with abundant blood flow is located in the pancreatic tail, it is difficult to distinguish it from accessory spleen. The patient was a 71-year-old woman who was admitted with impaired consciousness and hypoglycemia, raising suspicion of insulinoma. The selective arterial calcium injection test suggested a lesion in the pancreatic tail. Contrast-enhanced computed tomography and magnetic resonance imaging (MRI) showed a mass in the splenic hilum; however, its continuity with the pancreas was unclear. Contrast-enhanced MRI using super paramagnetic iron oxide (SPIO) showed no SPIO uptake in the splenic hilar mass. SPIO contrast-enhanced MRI is considered useful for differentiating pancreatic endocrine tumors from paraspleen tumors.
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Insulinoma , Imagen por Resonancia Magnética , Neoplasias Pancreáticas , Humanos , Insulinoma/diagnóstico por imagen , Insulinoma/diagnóstico , Femenino , Anciano , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/diagnóstico , Diagnóstico Diferencial , Medios de Contraste , Bazo/diagnóstico por imagen , Bazo/patología , Compuestos Férricos , Coristoma/diagnóstico por imagen , Coristoma/patologíaRESUMEN
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.
Asunto(s)
Coristoma , Imagen por Resonancia Magnética , Timoma , Neoplasias del Timo , Tomografía Computarizada por Rayos X , Humanos , Masculino , Persona de Mediana Edad , Timoma/cirugía , Timoma/diagnóstico , Timoma/diagnóstico por imagen , Timoma/patología , Neoplasias del Timo/cirugía , Neoplasias del Timo/diagnóstico , Neoplasias del Timo/diagnóstico por imagen , Neoplasias del Timo/patología , Coristoma/cirugía , Coristoma/diagnóstico , Coristoma/patología , Coristoma/diagnóstico por imagen , Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/cirugía , Neoplasias de Cabeza y Cuello/diagnóstico , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/diagnóstico por imagenRESUMEN
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.
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Miastenia Gravis , Timoma , Humanos , Femenino , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Persona de Mediana Edad , Timoma/complicaciones , Timoma/diagnóstico , Neoplasias del Timo/complicaciones , Neoplasias del Timo/diagnóstico , Coristoma/complicaciones , Coristoma/patologíaRESUMEN
Microscopic heterotopic extraovarian sex cord-stromal proliferations were first reported in the literature in 2015 by McCluggege. Afterwards, few similar cases have been described. Herein, we report the fourteenth case of microscopic heterotopic sex cord-stromal proliferation and the third case sited in the pelvic peritoneum. The clinical history of these rare cases suggests their benign nature. Knowledge of this histological pattern is important for differential diagnoses such as malignant pathologies and metastatic diseases.
Asunto(s)
Tumores de los Cordones Sexuales y Estroma de las Gónadas , Femenino , Humanos , Persona de Mediana Edad , Proliferación Celular , Coristoma/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patologíaRESUMEN
Choristomas are proliferative growths that occur when normal tissue develops in abnormal locations and may resemble tumors. Oral choristomas commonly present as slow-growing, indolent, and firm masses. The diagnosis primarily relies on histopathologic examination. Given their tumor-like growth and developmental pathogenesis, it is critical to differentiate them from neoplasms. In this article, we present two clinical cases of oral choristomas, a cartilaginous choristoma, and an osseous choristoma of the tongue. We also offer a brief review of the literature discussing clinical presentation, microscopic features, and therapeutic options.
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Coristoma , Enfermedades de la Lengua , Humanos , Coristoma/diagnóstico , Coristoma/patología , Enfermedades de la Lengua/diagnóstico , Enfermedades de la Lengua/patología , Masculino , Femenino , Diagnóstico Diferencial , Adulto , Persona de Mediana Edad , Enfermedades de la Boca/diagnóstico , Enfermedades de la Boca/patologíaRESUMEN
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.
Asunto(s)
Coristoma , Cistadenocarcinoma , Neoplasias Pulmonares , Conductos Paramesonéfricos , Humanos , Femenino , Adulto , Diagnóstico Diferencial , Conductos Paramesonéfricos/patología , Coristoma/diagnóstico , Coristoma/patología , Cistadenocarcinoma/diagnóstico , Cistadenocarcinoma/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/secundario , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/patologíaRESUMEN
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.