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Multiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report.
AME Case Rep
September 2024
Department of Pediatrics, São José do Rio Preto School of Medicine [Fundação Faculdade Regional de Medicina (FUNFARME)], São José do Rio Preto, São Paulo, Brazil.
Article Synopsis
- - MEN2B is a genetic syndrome that leads to multiple health issues, including thyroid cancer, adrenal tumors, and distinctive physical traits like marfanoid habits and mucosal neuromas.
- - A 10-year-old boy had several health problems, including constipation, tongue lesions, slow growth, and neurological symptoms, prompting comprehensive medical assessments that eventually confirmed he had MEN2B.
- - The diagnosis of MEN2B typically requires the presence of medullary thyroid cancer, and additional mutations are common, highlighting the need for ongoing monitoring and genetic testing in affected individuals.
Pheochromocytoma/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the Gene: A Case Report.
Arch Iran Med
August 2024
Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
This case report presents a 10-year-old patient diagnosed with pheochromocytoma/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154_161del, p.ser52Profster14) in the gene.
View Article and Find Full Text PDFMultiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma.
JCEM Case Rep
September 2024
Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Pheochromocytoma and paragangliomas (PPGLs) are rare chromaffin cell tumors arising from neural crest tissue. The majority of these tumors are nonmetastatic, with complete cure achieved through surgical resection. PPGLs have been associated with several hereditary cancer syndromes, including von Hippel-Lindau (VHL).
View Article and Find Full Text PDFImaging guided adrenalectomy with Indocyanine green fluorescence in a dog with a pheochromocytoma.
J Vet Sci
July 2024
Department of Veterinary Surgery, College of Veterinary Medicine, Chungbuk National University, Cheongju 28644, Korea.
Importance: This case report presents the successful surgical removal of a pheochromocytoma in a dog using indocyanine green (ICG) fluorescence imaging.
Case Presentation: A 10-year-old, 6.87 kg, spayed female poodle was referred for an abdominal mass and eight episodes of vomiting.
Pediatric malignant pheochromocytoma with atypical presentation as vision changes, lung metastasis, and recurrence: a case report.
J Med Case Rep
March 2024
Department of Cardiovascular Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Zhongshan 2nd Road, No.136, Yuzhong District, Chongqing, 400014, China.
Background: This case report documents a case of malignant pheochromocytoma manifested as vision changes with lung metastasis and recurrence.
Case Presentation: A 10-year-old Han Chinese girl presented with vision changes and was eventually diagnosed with pheochromocytoma by contrast-enhanced computed tomography, urine vanillylmandelic acid. After medication for hypertension and surgery, clinical symptoms disappeared.
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