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Congenital insensitivity to pain (CIP) is an exceedingly rare autosomal recessive condition caused by SCN9A Nav1.7 loss-of-function mutations. We present a case of a patient with clinical symptoms compatible with CIP who had a homozygous SCN9A probable pathogenic variation, which results in a premature stop codon. According to the recommendations of the American College of Medical Genetics and Genomics, it is classified as probable pathogenic (class 2). Early detection and treatment may aid in reducing mortality and morbidity as the signs and symptoms of CIP with dysmorphic features manifest early, typically at birth or during infancy. However, with careful medical attention, affected individuals can have longer life expectancies., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Al-Hroub et al.)

Introduction and Significance: Chickenpox, induced by the varicella-zoster virus (VZV), generally presents with an itchy rash and fluid-filled blisters. While complications such as pneumonia and sepsis are well-documented, occurrences of septic arthritis and purpura fulminans are exceedingly rare. Septic arthritis following varicella infection is infrequently reported and often attributed to Staphylococcus aureus . Purpura fulminans encompasses disorders characterized by rapidly progressing purpuric lesions, often fatal and associated with consumptive coagulopathy., Case Presentation: The authors present the case of an 8-year-old boy diagnosed with chickenpox who concurrently developed severe left knee pain, erythema, and swelling indicative of septic arthritis, along with a single pustular lesion on his right foot that progressed to purpura fulminans. Laboratory investigations revealed elevated inflammatory markers. Knee ultrasound findings were consistent with septic arthritis, corroborated by synovial fluid analysis. Immediate initiation of empiric antibiotics was undertaken. Further investigation disclosed unusual coagulation parameters, positive autoantibodies, and reduced protein S levels. Treatment included anticoagulation, immunomodulation, and ultimately, amputation., Clinical Discussion: This rare case underscores the complexity of varicella-related complications, representing the first documented instance of simultaneous septic arthritis and purpura fulminans in a pediatric patient. It highlights the necessity of a multidisciplinary approach for accurate diagnosis and management, emphasizing the importance of recognizing rare complications to improve patient outcomes., Conclusion: This case exemplifies the complexity of varicella-associated complications, showcasing a rare simultaneous occurrence of septic arthritis and purpura fulminans in a pediatric patient. It underscores the importance of a thorough understanding and collaborative management approaches for timely intervention and enhanced clinical outcomes., Competing Interests: The authors declare no conflicts of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)

Introduction and Importance: Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. During the past decade, DADA2's clinical spectrum has expanded significantly as the number of reported cases has increased., Case Presentation: A 5-year-old boy with DADA2 who experienced sudden onset left-sided vision loss due to unilateral central retinal artery occlusion. The patient had a history of recurrent fever and arthralgia with high inflammatory markers (C-reactive protein and erythrocyte sedimentation rate). Brain MRI showed mild limbic encephalitis, and MRA was normal. His gene sequencing results demonstrated substitutions mutation in ADA2, and the diagnosis of DADA2 was eventually confirmed., Clinical Discussion: Central retinal artery occlusion (CRAO) in paediatrics is a very rare condition. Typically, DADA2 presents in childhood as systemic inflammation, vasculitis, humoral immunodeficiency, and/or haematologic abnormalities. The most common phenotype described in the literature is vasculitis, which typically affects the skin and central nervous system, but other systems can also be affected. Ophthalmic manifestations are less common and highly variable., Conclusions: DADA2 manifests rarely with central retinal artery occlusion; therefore, physicians should be aware of this manifestation., Competing Interests: The authors declare that they have no competing interests.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article, (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder that usually presents with regional cervical lymphadenopathy and fever. We report a case of a 12-year-old female who complained of fever, night sweating, significant weight loss, and tender right cervical lymph node enlargement for 2 months. A full workup including laboratory tests and imaging studies, an excisional biopsy, and histopathological analysis were done, and the diagnosis of KFD was confirmed. The patient was treated with analgesia and oral prednisolone, resulting in good improvement. A high degree of clinical suspicion is imperative for physicians, given the rarity of the disease and the associated diagnostic challenges., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Introduction and Importance: SLE, or systemic lupus erythematosus, is a chronic autoimmune condition of uncertain origin characterized by the presence of autoantibodies that target the body's own antigens., Case Presentation: A 16-year-old female presented at the emergency room with a right-sided lip droop and subsequently developed symptoms consistent with a malignant hemispheric infarction, including altered consciousness, hemiplegia, and forced gaze deviation. Her laboratory results were within the normal range. However, a brain MRI revealed cerebral edema and a massive infarction in the middle cerebral artery (MCA) region. Subsequently, her serologic profile was indicative of SLE, leading to a later diagnosis., Clinical Discussion: The patient in this case presented with symptoms suggestive of a stroke. A CT scan showed MCA occlusion, leading to a diagnosis of malignant MCA syndrome. The patient was also diagnosed with systemic lupus erythematosus, which is associated with an increased risk of stroke. Inflammation-induced thrombosis and CNS vasculitis are potential mechanisms linking SLE and stroke., Conclusion: This case serves as an example of a sudden and potentially life-threatening presentation of SLE, underscoring the importance of early detection and targeted treatment that can influence the course of the disease., Competing Interests: The authors declare that they have no competing interests.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Familial Mediterranean fever is a hereditary autoinflammatory disease affecting mainly Arabs, Turks, Armenians, and Jews with genotype-phenotype heterogeneity, presenting as recurrent episodes of fever along with polyserositis and rash. To date, more than 370 mutations in the MEFV gene have been recognized to cause the disease., Methods: We conducted a retrospective cohort study involving 124 patients in Hebron, Palestine, diagnosed with FMF at the Al-Ahli, and Palestinian Red Crescent Society (PRCS) Hospitals., Results: The median age of diagnosis was five years, presenting as abdominal pain (76.6%), fever (67.7%), joint pain and arthritis. Regarding MEFV gene mutations, we had 62 patients (50%) with heterozygous genotypes, 40 patients (32.3%) with homozygous phenotypes, 21 patients (16.9%) with compound heterozygous genotypes, and one was a missing state. Regarding variant frequencies, M694V was the most common one (43.4%), followed by E148Q (15.6%), V726A (5.7%), A744S (4.1%), and R202Q (4.1%). Positive family history was detected in 59 patients (54.6%), and there was no significant difference in zygosity regarding characteristics, consanguinity, and family history., Conclusions: We affirm in this study of 124 children with FMF, abdominal pain, followed by fever, joint pain and arthritis were the main manifestations. Further, M694V, E148Q, V726A, A744S, and R202Q were the most frequent mutations, and carrying the M649V mutations is associated with a predisposition to other comorbidities. We believe that this study gives a pervasive overview of FMF in Palestinian patients. Looking forward, future studies on a larger number of patients could precisely highlight the genotype-phenotype association among FMF patients., Competing Interests: All authors declare no conflict of interest., (© 2023 The Mediterranean Journal of Rheumatology (MJR).)

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., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2022 Rami A. Misk et al.)

Background: Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications., Materials and Methods: We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Case Presentation . We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management., Conclusion: Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2022 Ahmad Al Hammouri et al.)

Introduction: Hepatitis A virus infections are mostly asymptomatic or mildly symptomatic, and generally this disease has a benign course and resolves spontaneously. However, intrahepatic and rarer extrahepatic manifestations can complicate typical cases of acute hepatitis. Pleural effusion is an extremely rare extrahepatic entity with 20 cases reported in literature., Case Presentation: We report herein a recent case of both pleural effusion and ascites accompanying hepatitis A infection in a 5-year-old middle eastern child, diagnosed using serological testing and imaging studies, who was treated with supportive management with full resolution after 2 weeks. In addition, we review available literature regarding hepatitis A virus associated with pleural effusion using PubMed and summarize all reported cases in a comprehensive table., Results: Literature contains 20 reported cases of serology-confirmed hepatitis A virus presenting with pleural effusion, most in the pediatric population with average age at presentation of 9 years 8 months. The majority of reported patients had right-sided pleural effusion (50%) or bilateral effusion (45%), while only 5% presented with pleural effusion on the left side. Hepatomegaly and ascites occurred concurrently in 80% and 70% respectively. Supportive treatment without invasive procedures (except one chylothorax case) yielded complete recovery in 95% of cases, while only one case progressed to fulminant liver failure followed by death., Conclusion: Acute hepatitis A virus rarely presents with pleural effusion, usually following a benign course with spontaneous resolution in most patients. Pleural effusion does not change the prognosis or require any invasive treatment. Thus, further invasive procedures are not recommended and would only complicate this self-resolving benign condition., (© 2022. The Author(s).)