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http://dx.doi.org/10.1016/S0022-5347(17)69667-8DOI Listing

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Article Synopsis
  • * Subsequent tests, including a bone marrow biopsy and PET scan, led to the diagnosis of a solitary plasmacytoma (SP), which is a rare tumor type, highlighting the unusual presentation of the condition in a patient experiencing chest pain.
  • * The patient received localized radiation therapy for treatment, while also being monitored for the potential progression to multiple myeloma (MM), emphasizing the need for ongoing surveillance in such cases.
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This case report presents a six-year-old male patient with massive hepatomegaly attributed to a solitary simple hepatic cyst. The patient was referred to the pediatric gastroenterology clinic after his family noted progressive abdominal distention over four months, with no associated symptoms such as pain, jaundice, or systemic illness. Physical examination revealed significant hepatomegaly and initial laboratory investigations indicated mild transaminitis but were otherwise unremarkable.

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Background: Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism, impaired development, and an increased predisposition to autism spectrum disorder. In addition, many patients also present with neuropsychiatric disorders, including attention deficit hyperactivity disorder, anxiety disorders, and various behavioral abnormalities.

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Peribiliary cysts: uncommon mimickers of hepatic and biliary cystic lesions.

Abdom Radiol (NY)

January 2025

Abdominal and Oncoradiology Department, A Beneficência Portuguesa de São Paulo, R. Maestro Cardim 769, São Paulo, SP, 01323-001, Brazil.

Peribiliary cysts (PC) are dilatations of the extramural peribiliary glands, with a very characteristic imaging pattern in the contexts of hepatobiliary diseases, idiopathic portal hypertension, adult-type polycystic disease of the liver and kidneys, solitary nonparasitic cysts, and systemic infections. The clinical relevance of PC is related to the fact that their presence may indicate underlying pathologies (such as those mentioned above) and may be considered as a potential marker of liver disease progression. Although imaging findings are quite characteristic, recognizing their main differential diagnoses, including malignancies, can be challenging but are essential to avoiding diagnostic errors.

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