Activated phosphoinositide 3-kinase delta syndrome 2 associated with Kikuchi–Fujimoto disease: a rare Palestinian case report

Abstract

Introduction: Histiocytic necrotic lymphadenitis (HNL), also known as Kikuchi–Fujimoto disease (KFD), is a rare local lymphadenopathy with a benign course and clinical manifestations such as fever, lymphadenopathy, rash, hepatosplenomegaly, central nervous system (CNS) symptoms, and hemophilic cell syndrome. It was first identified by Japanese pathologists Kikuchi and Fujimoto. KFD damages the meninges, the brain parenchyma, and peripheral nerves in addition to the CNS. Neurological symptoms may even be the most obvious clinical manifestations or initial symptoms of the disease. Case presentation: We present a unique case of a 7-year-old male patient who was diagnosed with activated phosphoinositide 3-kinase delta syndrome 2 (APDS 2) associated with KFD, a HNL during a workup for fever without a focus and cervical lymphadenopathy. Conclusion: Highlighted the unique relationship between two uncommon conditions and stressed the significance of adding KFD to the list of possible diagnoses for lymphadenopathy in APDS 2. Furthermore, we demonstrate that patients with APDS 2 may exhibit low immunoglobulin M levels.

Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

“…Hemophagocytic lymphohistiocytosis (HLH)-like clinical pictures have been described, in one case followed by Hodgkin’s lymphoma. One case study reported an association of APDS2 with Kikuchi-Fujimoto syndrome ( 36 ), another presented with gut-associated T-cell lymphoproliferative disease ( 37 , 38 ). Thus, careful histological examination of lymph nodes by an experienced pathologist is required to avoid unnecessary administration of cytostatic drugs ( 34 , 35 ).…”