Background: The differential diagnosis of lymphadenopathies in children including benign and malignant conditions is often difficult to identify by ultrasound (US). The lymphadenopathies in children are frequent and mostly benign, therefore it is essential to decide what patients should undergo further studies.
Objective: To describe the potential usefulness of a new suspicious ultrasound sign on pediatric lymphadenopathies that can orient the diagnosis of malignancy.
Materials And Methods: We retrospectively reviewed all pediatric cases with lymphadenopathy suspicious of lymphoma or lymphoproliferative syndrome on soft tissue ultrasound from 2014 to 2021. Two expert ultrasound radiologists reviewed ultrasound images of these patients, associating the internal structure of infiltrated adenopathy with the internal structure of the truffles.
Results: On ultrasound, twelve cases presented enlarged lymphadenopathy with loss of internal structure, without hilum; mostly hypoechoic parenchyma, with some fine echogenic serpiginous linear surrounding hypoechoic pseudo nodular images, resembling the inner structure of black truffles. This US pattern looked suspicious and histological study was recommended. In 9 cases a lymphomatous infiltrated adenopathy was confirmed on biopsy.
Conclusion: The truffle sign is a new potential suspicious ultrasound sign, that can suggest malignant lymphadenopathy in children. This ultrasound pattern can have some probable usefulness to the radiologist in order to recommend further studies, including histological study, that need to be validated by a larger sample. It is important to recognize easily and early the lymphomatous compromise in a lymph node.
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http://dx.doi.org/10.1007/s40477-023-00798-0 | DOI Listing |
Clin Exp Immunol
January 2025
Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Introduction: STAT3 orchestrates crucial immune responses through its pleiotropic functions as a transcription factor. Patients with germline monoallelic dominant negative or hypermorphic STAT3 variants, who present with immunodeficiency and/or immune dysregulation, have revealed the importance of balanced STAT3 signaling in lymphocyte differentiation and function, and immune homeostasis. Here, we report a novel missense variant of unknown significance in the DNA binding domain of STAT3 in a patient who experienced hypogammaglobulinemia, lymphadenopathy, hepatosplenomegaly, immune thrombocytopenia, eczema and enteropathy over a 35-year period.
View Article and Find Full Text PDFImmun Inflamm Dis
January 2025
Department of Pediatrics, NHO Okayama Medical Center, Okayama, Japan.
Aim: Kikuchi-Fujimoto disease (KFD) rarely affects pediatric patients and is characterized by prolonged fever and cervical lymphadenopathy. The diagnosis of KFD remains challenging and often requires an invasive biopsy. Low serum alkaline phosphatase levels have frequently been observed in patients with KFD; however, the clinical significance of low serum alkaline phosphatase levels remains unclear.
View Article and Find Full Text PDFJ Allergy Clin Immunol
January 2025
Nationwide Children's Hospital, Columbus, OH, USA. Electronic address:
Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Department of Orthopedics and Trauma Surgery, Tribhuwan University, Institute of Medicine, Kathmandu, Nepal.
Introduction And Importance: Grisel syndrome (GS) is a rare but potentially lethal condition characterized by non-traumatic atlantoaxial subluxation primarily affecting pediatric population following inflammatory condition of head and neck. Early diagnosis and prompt treatment is crucial for better management of symptoms and better outcomes.
Case Presentation: 7-years-old child present with torticollis, sudden onset progressive neck pain, restricted range of motion and bilateral lymphadenopathy after upper respiratory tract infection (URTI).
J Vector Borne Dis
October 2024
Department of Pediatrics, IMS and SUM Hospital, Siksha 'O' Anusandhan (deemed to be) University, K8, Kalinga Nagar, Bhubaneswar, Odisha, India.
Background Objectives: Scrub typhus is an acute febrile zoonotic disease caused by the obligate intracellular gram-negative bacteria Orientia tsutsugamushi. Growing data over the last few years on the Indian subcontinent suggest that it is one of the most widespread but under-reported diseases. The study aimed to document the clinical and paraclinical profile and evaluate complications of scrub typhus in severe and nonsevere pediatric age groups.
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