IntroductionJuvenile systemic lupus erythematosus (jSLE), defined by disease onset before the age of 18 [1], accounts for 15-20% of all SLE cases and is characterized by a more aggressive disease course, higher rates of major organ damage, and a twofold higher mortality rate compared to adult-onset SLE [2-4]. While renal, hematologic, and cutaneous manifestations are common, jSLE can also present with atypical and life-threatening complications that create significant diagnostic and therapeutic challenges.Acute pancreatitis is a recognized but uncommon complication of jSLE, occurring in approximately 4.2% of patients and associated with high fatality rates, often linked to underlying vasculitis or immune dysregulation [5]. Similarly, significant peripheral nervous system involvement is rare, with pure axonal motor polyneuropathy being an infrequently detailed pattern compared to sensory or central nervous system manifestations [6]. Furthermore, the coexistence of jSLE with other autoimmune disorders, such as type 1 diabetes mellitus (T1D), remains a rare clinical scenario, though one that is mechanistically plausible due to shared genetic susceptibility factors, including HLA-DR3 and HLA-DR4 haplotypes [7].The simultaneous or rapidly sequential development of this specific triad—acute pancreatitis, axonal motor polyneuropathy, and T1D—in a single patient represents an exceptionally rare clinical convergence that has not been previously described in the literature. This constellation of severe complications underscores an extreme disease phenotype and poses a formidable challenge in distinguishing primary disease activity from treatment-related toxicities. In this report, we detail the case of a 14-year-old female who presented with this life-threatening triad during a severe jSLE flare to highlight the complex management required and to emphasize the importance of maintaining a high index of suspicion for multiple, concurrent systemic attacks in this vulnerable population.

IntroductionCongenital Dyserythropoietic Anemia Type II (CDA-II) is a rare autosomal recessive disorder characterized by ineffective erythropoiesis, typically caused by biallelic mutations in the SEC23B gene [1]. This gene encodes a crucial component of the COPII coat protein complex responsible for intracellular protein transport [2]. Clinically, CDA-II presents with lifelong anemia of variable severity, jaundice, and hepatosplenomegaly [1]. However, arriving at a correct diagnosis is often challenging due to significant phenotypic heterogeneity and clinical overlap with more common hereditary anemias [3]. In regions where disorders like thalassemia are endemic, the similar presentation of chronic, transfusion-dependent anemia frequently leads to misdiagnosis, delaying appropriate management [4].This diagnostic delay can lead to severe and preventable long-term complications. Patients often develop significant iron overload, not only from repeated transfusions but also from increased intestinal absorption driven by the profound ineffective erythropoiesis. Other sequelae include growth retardation, gallstones, and, in resource-limited settings, transfusion-transmitted infections. While the morphological hallmark of CDA-II is the presence of binucleated erythroblasts in a hypercellular bone marrow, this finding is not entirely specific and modern diagnostic standards rely on molecular confirmation [5]. The transition from a morphology-based diagnosis to a genetically confirmed one is critical for guiding management and preventing irreversible organ damage.Here, we report the case of a 13-year-old girl from South Asia with a classic CDA-II phenotype whose diagnosis was delayed for years due to the regional prevalence of thalassemia. This case illustrates the severe morbidity that accumulates from a delayed diagnosis, including growth failure, extreme iron overload, and transfusion-acquired hepatitis C. It underscores the limitations of relying solely on morphological findings in a complex diagnostic landscape and highlights the critical need for increased awareness and access to definitive genetic testing in resource-constrained environments to improve patient outcomes.