Ectopic Parathyroid Adenoma in an 11-Year-Old Girl: Case Report and Literature Review.
Ontology highlight
ABSTRACT: Objective
Primary hyperparathyroidism secondary to an ectopic parathyroid adenoma is rare among children and adolescents.Methods
We describe the case of an 11-year-old girl with incidentally diagnosed primary hyperparathyroidism secondary to an intrathymic parathyroid adenoma and performed a review of the related literature.Results
99mTechnetium sestamibi single-photon emission computerized tomography/computed tomography and 4-dimensional computed tomography confirmed the ectopic location of the adenoma. The patient underwent thoracoscopic thymectomy and remained normocalcemic with elevated parathyroid hormone showing a downward trend. Parathyroid hormone normalized 18 months after successful parathyroidectomy.Conclusion
We review the case of a rare mediastinal parathyroid adenoma in a pediatric patient and summarize the epidemiologic profile, diagnosis, and management of similar pediatric cases.
SUBMITTER: Flokas ME
PROVIDER: S-EPMC8074671 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:We provide a case report of two thyroid nodules in an 8-year-old girl, which revealed malignant ultrasonographic findings and which were confirmed as ectopic thymic tissue by total thyroidectomy. The ultrasound presentations of intrathyroidal thymus glands were similar to those of the malignant thyroid nodules. In addition, in this case, there were two ectopic thymus lesions in the thyroid gland, which undoubtedly increased the difficulty of diagnosis. The occurrence of multiple ectopic thymic lesions in the thyroid gland was different from previous reports. Therefore, clinicians should take into consideration this rare entity, and should not mistake it as a thyroid neoplasm; moreover, they should not perform extensive thyroid resection.
| S-EPMC7036638 | biostudies-literature
Project description:Syringocystadenocarcinoma papilliferum (SCACP) is a rare malignant neoplasm arising from adnexal tissues and is the malignant complement to the benign neoplasm syringocystadenoma papilliferum (SCAP). SCACP lesions appear as raised nodules or inflammatory plaques and can be associated with SCAP or nevus sebaceous. There have been fewer than 100 described cases of this neoplasm in the literature, and all previously published cases have been described in adults, with the majority occurring in the elderly. We present a case of an adolescent female with a syringocystadenocarcinoma papilliferum arising from a large thigh mass harboring an in-frame alteration in MAP2K1 along with a brief review of the literature.
| S-EPMC8831041 | biostudies-literature
Project description:SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
| S-EPMC5418728 | biostudies-literature
Project description:Spigelian hernia (SH) is a surgical rarity in children, which occurs through slit-like defects in the anterior abdominal wall adjacent to the semilunar line, the convexity lateral line which joins the nine ribs to the pubic tubercle and signs the limit between the muscular and aponeurotic portion of transversus abdominis muscle. As there are no specific symptoms and signs, the diagnosis is difficult, especially in children. We report a case of SH that comes to our observation: a 14-year-old girl presented recurrent abdominal pain associated to intermittent palpable mass in the paraumbilical region. Starting from our case report, we review the literature of pediatric SH from 2000 to 2013 and we describe the anatomy, etiology, clinical presentation, instrumental diagnosis, and surgical technique of pediatric SH.
| S-EPMC4336063 | biostudies-other
Project description:BackgroundPulmonary lymphomatoid granulomatosis (PLG) is a lymphoproliferative disease associated with Epstein-Barr viral infection occurring mainly in adults and rarely in children. It is characterized by multiple pulmonary nodules. Its diagnosis depends on lung biopsy findings. Most patients are immunodeficient, and it commonly presents in children undergoing chemotherapy for leukemia. We report the case of a child with PLG caused by a mutation in the macrophage-expressed gene 1 (MPEG1), suggesting possible PLG occurrence in children undergoing treatment for pulmonary nodular lesions.Case summaryThis study reports a case of PLG without apparent immunodeficiency, suggesting the possibility of this disease occurrence during the treatment of pulmonary nodular lesions in children. Initially, the cause was assumed to be an atypical pathogen. Following conventional anti-infective treatment, chest computed tomography findings revealed that there were still multiple nodules in the lungs. Additionally, the patient was found to be infected with the Epstein-Barr virus. Histopathological examination of the resected lung revealed lymphoproliferative lesions with necrosis. Small lymphocytes, plasma cells, and histiocytes were observed in the background, although Reed-Sternberg cells were absent. Immunohistochemical staining [CD20(+), CD30(+), and CD3(+)] and EBV-encoded small RNA1/2 in situ hybridization of small lymphocytes revealed approximately 200 cells/high-power field. Whole exon sequencing of the patient revealed a mutation in the MPEG1. The patient was eventually diagnosed with PLG and transferred to the Department of Pediatric Oncology for bone marrow transplantation.ConclusionAs PLG is rare and fatal, it should be suspected in clinical settings when treatment of initial diagnosis is ineffective.
| S-EPMC9210899 | biostudies-literature
Project description:Primary benign tumors of the trachea are uncommon. These tumors may cause tracheal occlusion and lead to a misdiagnosis of asthma. Ectopic parathyroid adenoma (EPA) can be seen anywhere between the mandibular angle and the mediastinum. The distal part of the trachea is a rare location for EPA, and EPA obstructing the endotracheal lumen has not been reported in the literature. We herein describe a 52-year-old female with a several-year history of asthma treatment who presented with progressive dyspnea. Computed tomography revealed a mass that was obstructing the tracheal lumen. Total mass excision was performed via endobronchial treatment, and pathologic examination revealed EPA.
| S-EPMC4246358 | biostudies-literature
Project description:Thymolipoma is a benign and rare tumor that could be found at any age. Thymolipoma associated with the myasthenia gravis, Graves disease, aplastic anemia, and hypogammaglobulinemia was reported previously, but in this case, thymolipoma is associated with lymphocytosis. A 6-year-old girl was brought to the hospital because of a chronic cough. Her evaluation revealed a 130 × 160× 160 mm fat-containing soft tissue mass arising from anterior mediastinum with complete left lung collapse and contralateral mediastinal shift. Her past medical history showed that she had been evaluated and treated unsuccessfully due to severe lymphocytosis two years earlier. Her peripheral blood and bone marrow cell morphology were normal; in contrast, blood cell count and CD flow cytometry showed severe lymphocytosis. The patient's tumor was excised entirely without any complications, and lymphocytosis resolved during the follow-up period. Because the T lymphocytes are developed in the thymus, and more than 80% of cells in CD flow cytometry were T lymphocytes, and the lymphocytosis resolved with tumor removal; therefore, the authors suggested that Thymolipoma could be associated with lymphocytosis.
| S-EPMC7734305 | biostudies-literature
Project description:BackgroundNumerous cases of scurvy secondary to diet limitations have been reported in the literature with most being boys with special needs. To date, the focus of the literature describing vitamin C deficiency has been the medical sequelae of the deficiency. There has been little attention given underlying diet limitations causing the vitamin C deficiency.Case presentationA five-year-old female with typical development initially presented with rash, then later for pain in both lower extremities. After evaluation revealed vitamin C deficiency, she was admitted into an intensive day treatment feeding program. A feeding assessment found she had life-long problems with eating and had a diet that never exceeded ten foods. Across the course of treatment, she learned to eat 29 new foods. At six-month follow-up her body mass index had increased from the 1st to the 61st percentile. At one-year follow-up her body mass index was at the 85th percentile. All sequalae of her deficiency resolved.ConclusionsThis case is unusual as most reported studies describe males with special needs. The severity of her eating issues suggest providers may consider referral to allied health professionals to address diet limitations for both children identified with nutrient deficiencies as well as children whose selective eating places them at risk for nutritional deficiencies or problems with growth. The child we described was anemic, like 42% of children described in the case literature on scurvy and like 32% of the children in this literature, our patient was underweight. In the literature, comorbid nutrient deficiencies were reported in 22% of the scurvy case studies. We suggest vitamin C supplementation is a necessary component for addressing vitamin C deficiency, but insufficient for addressing the diet limitations causing the nutrient deficiency.
| S-EPMC6408840 | biostudies-literature
Project description:Background Unilateral pulmonary artery agenesis (UPAA) and Kommerell's diverticulum (KD) are two rare embryologically unrelated congenital vascular malformations rarely diagnosed in children. This is the first report of our knowledge of the unique combination for a child as patients are at a high risk of pulmonary hypertension and rupture of the diverticulum. Our aim is to present the case of a pediatric patient with UPAA and KD with the short literature review and to highlight the importance of early diagnostics of rare congenital vascular malformations. Case report A 1-year-old girl presented to the emergency department with prolonged cough and variable wheezing. A hypoplastic left lung was suspected in the radiographic image of the chest. A transthoracic echocardiogram revealed absence of the left pulmonary artery and right arch of aorta and anomaly of subclavian arteries was suspected. The diagnosis was confirmed by computed tomography scans of the chest that demonstrated elongation of the aorta and an aberrant right subclavian artery with KD, as well as absence of the left pulmonary artery. The patient is being followed up for the development of pulmonary hypertension and compression of vascular structures to the airways as well as any indications for surgical intervention because of the KD. Conclusions UPAA and KD are two very rare congenital vascular anomalies usually diagnosed in adults. A high risk of pulmonary hypertension and rupture of diverticulum is noted for adult patients. This case provides us with an exclusive possibility to follow up a patient with an extremely rare combination of the two vascular anomalies with insufficiently known future complications and outcomes.
| S-EPMC10424440 | biostudies-literature
Project description:Malrotation leading to massive chylous ascites is rare. A 9-year-old girl was investigated for slowly increasing abdominal distension under a year. She had no vomiting, weight loss, or pain, but was bothered in social situations. Medical investigations, including ultrasound and computed tomography scans, revealed massive ascites. Laparocentesis yielded milk-colored fluid, confirmed as lymph through laboratory analysis. A complete blood count, liver function and hematologic parameters, chyle cytology, bacterial cultures, and polymerase chain reaction for tuberculosis were all within normal limits. She was referred to a tertiary center for vascular anomalies. A dynamic contrast-enhanced magnetic resonance lymphangiography showed normal lymphatic anatomy without leakage or flow obstruction. A whole-body magnetic resonance imaging revealed a central mesenteric rotation. She was referred to a tertiary center for pediatric surgery, where a laparoscopic Ladd's procedure was performed using a new 5 mm pediatric sealing device, along with an appendectomy using a 5 mm stapler. To derotate the bowel, fenestrations were created in compartments containing a substantial amount of chyle and ascites, resulting in the drainage of 2.4 L of fluid. She was discharged the day after surgery and has been in good health for 1 year. We present a video illustrating the Ladd's procedure steps in this patient.
| S-EPMC10781518 | biostudies-literature