Multiple myeloma (MM) is a hematologic malignancy characterized by clonal proliferation of plasma cells in the bone marrow. It represents approximately 10% of hematologic malignancies and is the most common primary bone malignancy. This disease usually occurs between the ages of 40 and 70, although it is more frequently seen in patients over 65 years of age. On the other hand, extramedullary plasmacytoma-related diseases have a global annual incidence of three per 100,000 people. Orbital involvement in MM is considered rare. Orbital plasmacytomas represent less than 1% of all orbital lesions, and their incidence in relation to MM is approximately 3%. Only 35% of cases present the initial manifestations of MM.  In the following case we present a 63-year-old male patient who presented with left ocular proptosis of one month's duration, along with intermittent thoracic and lumbar back pain as well as weight loss of 12 kg in five months. A non-contrast cranial CT scan revealed a 31 x 31 x 36 mm extraconal orbital mass in the left orbit, with invasion of the paranasal sinuses and intracraneal extension, in addition to multiple lytic skull lesions. Laboratory results included severe normocytic normochromic anemia, mild thrombocytopenia, chronic kidney disease stage G3b, hypocalcemia, hyperphosphatemia, and elevated alkaline phosphatase. Immunohistochemistry demonstrated infiltration by clonal plasma cells (CD138 + and kappa +), findings consistent with MM.

Resistance to Thyroid Hormone Alpha (RTHα) is a rare genetic disorder caused by pathogenic variants in the Thyroid Hormone Receptor Alpha (THRA) gene, characterized by tissue-specific hypothyroidism despite often normal circulating thyroid hormone levels. In this report, we describe a family of three individuals-two sisters and their mother-carrying a heterozygous missense variant (c.1207G>A) in THRA. The variant was identified after evaluation of the daughters for short stature, increasing adiposity, and delayed bone age. Hormonal assessments revealed subtle thyroid function abnormalities, including low-normal free thyroxine (FT4), high-normal free triiodothyronine (FT3), an elevated FT3/FT4 ratio, and normal thyroid-stimulating hormone (TSH) levels. Additional clinical features included variably present delayed dentition, chronic constipation, and hepatic steatosis. Both sisters exhibited normocytic anemia and delayed language development. This report adds novel insight by documenting intrafamilial variability and age-related attenuation of biochemical abnormalities in a family carrying a previously described THRA variant. It emphasizes the risk of missed diagnosis when relying solely on thyroid function tests and illustrates the importance of family-based evaluation across the lifespan, including in adults who may present with subtler biochemical or metabolic abnormalities. RTHα should be considered in patients with growth delay, disproportionate weight gain, persistent normocytic anemia, or developmental delay, even when thyroid hormone levels appear near-normal. Awareness of these patterns can prevent delayed diagnosis and support individualized clinical management.

Immunoglobulin A nephropathy (IgAN) is the most common primary glomerular disease in China and a major contributor to the need for renal transplantation. IgAN is characterized by the mesangial deposition of IgA-dominant or IgA-specific immune complexes, accompanied by complement components, and is recognized as a polyclonal autoimmune disorder largely restricted to the kidneys. But approximately 9.2% of patients with IgAN demonstrate evidence of monoclonal IgA deposition, making IgAN with monoclonal IgA deposition and related nephropathies clinically challenging conditions. Our report describes a rare case of IgAN complicated by IgA-λ monoclonal gammopathy of rheumatologic significance(MGRhS). Although the renal pathology in the patient did not suggest monoclonal gammopathy of renal significance (MGRS), the patient showed a poor initial response to corticosteroid, immunosuppressive therapy, and rituximab, followed by progressive clinical deterioration with multi-system damage, including persistent fever, normocytic anemia, recurrent hemoptysis, and sensorimotor peripheral neuropathy. Clone-directed treatment targeting the underlying plasma cell disorder led to marked clinical improvement. The patient subsequently underwent kidney transplantation with favorable outcomes after three years. Over a three-year follow-up period after transplantation, graft function remained stable and no evidence of disease recurrence was detected. In conclusion, when renal pathology in IgAN does not fulfill diagnostic criteria for MGRS, careful evaluation for IgA monoclonal gammopathy is warranted. It may represent MGRhS associated with multisystem involvement. Complete elimination of the monoclonal protein before transplantation is critical for achieving sustained allograft survival.

Acquired hemophilia A is a rare autoimmune bleeding disorder caused by neutralizing autoantibodies against factor VIII. It typically affects older adults and may present with spontaneous mucocutaneous bleeding, extensive ecchymoses, soft-tissue hematomas, and isolated prolongation of the activated partial thromboplastin time. We report the case of an 84-year-old woman with hypertension, hyperlipidemia, and anxiety who presented with several weeks of spontaneous nontraumatic bruising, fatigue, and exertional dyspnea. Initial evaluation revealed severe normocytic anemia, isolated aPTT prolongation, lack of correction on a mixing study, factor VIII activity <5%, and a high-titer factor VIII inhibitor of 470 Bethesda Units. Lupus anticoagulant testing was initially positive, while anticardiolipin and anti-β2-glycoprotein I antibodies were negative. The patient developed a right upper extremity hematoma and required a packed red blood cell transfusion. Immunosuppressive therapy with high-dose prednisone and weekly rituximab was initiated, with subsequent clinical improvement, normalization of aPTT, recovery of factor VIII activity, and disappearance of the inhibitor during follow-up. This case highlights the importance of considering acquired hemophilia A in elderly patients with spontaneous bleeding and isolated aPTT prolongation, even in the presence of transient lupus anticoagulant positivity.

Thymomas are epithelial tumors of the anterior mediastinum and are frequently associated with paraneoplastic autoimmune disorders. Pure red cell aplasia (PRCA) is a rare but clinically significant complication, caused by immune-mediated suppression of erythropoiesis. We report a case of a 52-year-old male with a previously diagnosed but untreated thymoma, who presented after 9 years with severe normocytic, normochromic anemia and reticulocytopenia. Bone marrow examination revealed selective erythroid suppression with preservation of myeloid and megakaryocytic lineages, consistent with PRCA. Imaging demonstrated a large anterior mediastinal mass measuring 16 cm. The patient received supportive blood transfusions followed by surgical thymectomy. Histopathological and immunohistochemical analysis confirmed a mixed spindle cell thymoma (Type A/AB). Postoperatively, the patient achieved complete hematological recovery without additional immunosuppressive therapy. This case highlights that thymoma-associated PRCA may present as an isolated paraneoplastic manifestation without neuromuscular symptoms. It underscores the crucial role of thymectomy in restoring erythropoiesis and achieving transfusion independence. To our knowledge, this is the first reported case of thymoma-associated PRCA in Syria, providing valuable insight for clinicians managing similar rare presentations.

Canine babesiosis, caused by Babesia gibsoni infection, is a potentially fatal tick-borne disease in dogs and depicts variable responses to combination therapies. This study was designed to evaluate a novel Artesunate-Atovaquone-Azithromycin (AAA) regimen against the standard Doxycycline-Clindamycin-Metronidazole (DCM) protocol in naturally infected dogs. The study included two treatment groups and a healthy control group, each comprising 10 dogs. Treatment efficacy was assessed through haemato-biochemical analysis and estimation of parasite load by relative quantification (RQ) real-time PCR over different observation points on day 0, 10, 28, 60, 90 and 180. The relative quantity of B. gibsoni 18S rRNA gene in canine blood samples was normalized against the canine β-actin gene using the 2[-ΔΔCt] method. The infected dogs exhibited normocytic-normochromic anaemia, thrombocytopenia, hypoproteinaemia, hyperglobulinemia, hyperbilirubinemia, azotaemia, high serum alkaline phosphatase and aspartate transaminase level whereas, mean creatinine level were found within normal physiological range. This study revealed that AAA therapy was associated with sustained superior efficacy with respect to haemato-biochemical remission and progressive reduction of parasitaemia, whereas DCM therapy revealed initial improvement followed by recrudescence. The negative Log RQ value demonstrated 10[LogRQ] times reduction in parasite associated transcript load on subsequent observation days compared to the baseline. A decrease exceeding 5 log RQ in parasite transcript level depicted a complete parasitic clearance, outperforming raw cycle threshold (Ct) values for clearance evaluation. These findings indicated that AAA regimen may be used as an efficient treatment alternative over conventional DCM therapy for the management of B. gibsoni infection in dogs.

Anemia is a common finding in pediatric practice and is most often attributed to nutritional deficiency; however, it may also represent the earliest manifestation of underlying systemic disease. We describe the case of a six-year-old girl who presented for a routine well-child visit and was found to have severe normocytic, normochromic anemia despite appearing clinically asymptomatic. Subsequent laboratory evaluation revealed profound renal dysfunction with metabolic acidosis and electrolyte abnormalities. Renal imaging demonstrated bilaterally small kidneys without hydronephrosis, consistent with advanced chronic kidney disease (CKD) likely due to congenital renal hypoplasia. The patient required emergent initiation of hemodialysis and was later transitioned to long-term renal replacement therapy. This case underscores the importance of maintaining a broad differential diagnosis when evaluating unexplained anemia in children and highlights that CKD may remain clinically silent until late stages, with anemia serving as a critical early diagnostic clue.

Infantile hepatic hemangiomatosis (IHH) is a rare benign vascular tumor of infancy, defined by multiple angiomatous lesions diffusely replacing the hepatic parenchyma. Its clinical course can be severe due to systemic complications, particularly consumptive hypothyroidism and high-output heart failure. We report the case of a four-month-old female infant admitted for abdominal distension evolving over two weeks. Physical examination revealed massive hepatomegaly (hepatic span of 14 cm) with abdominal-thoracic collateral venous circulation and no cutaneous hemangiomas. Laboratory workup showed normochromic normocytic non-regenerative anemia (hemoglobin = 6.7 g/dL), hepatic cytolysis (aspartate aminotransferase = 3× normal), cholestasis (alkaline phosphatase = 188 IU/L, gamma-glutamyl transferase = 335 IU/L), and a prothrombin time reduced to 54%. Alpha-fetoprotein was 470 ng/L. Abdominal MRI revealed multiple rounded hepatic lesions, T1 hypointense and T2 hyperintense with diffusion restriction and progressive centripetal contrast enhancement, consistent with diffuse IHH. Cardiac (echocardiography) and cerebral (transfontanellar ultrasound) assessments were normal. Systematic thyroid function tests revealed severe consumptive hypothyroidism, with thyroid-stimulating hormone level of 500 µIU/mL and free T4 of 6 pmol/L, without antithyroid antibodies. Management included progressive propranolol (Hemangiol®) up to 3 mg/kg/day, levothyroxine at 20 µg/kg/day, and red blood cell transfusion. At the six-month follow-up, thyroid function had normalized, and hepatic lesions showed significant regression. This case highlights the necessity of systematic thyroid function screening in all infants with IHH and illustrates the efficacy of propranolol in managing this rare but potentially life-threatening condition.

Alzheimer's disease (AD) and related dementias (DEM) involve immunological, vascular, and neurological abnormalities. Circulating L1 cell adhesion molecule (L1CAM/CD171)-enriched extracellular vesicles (NEVs), combined with haematological markers, may reflect multisystem changes associated with disease progression. We evaluated 412 individuals: Controls (n = 161), DEM (n = 61), AD (n = 132), mild cognitive impairment (MCI; n = 27), and other neurological disorders (OND; n = 31). Plasma NEVs were enriched using L1CAM immunocapture and quantified by cluster of differentiation 81 (CD81) enzyme-linked immunosorbent assay (ELISA). Acetylcholinesterase (AChE) activity, total vesicle protein, and lipid content were measured. Statistical analyses included non-parametric testing, correlations, and discriminant modeling integrating cognitive scores and haematological parameters such as hemoglobin (Hb), hematocrit (Hct), mean platelet volume (MPV), and leukocyte subsets. NEV concentrations differed significantly (H = 25.7, p < 0.001): controls 49.0, MCI 63.6, AD 32.9, DEM 35.4, and OND 28.3 ng/mL. NEVs were reduced in AD and DEM but relatively elevated in MCI, indicating a possible early compensatory response, although interpretation is limited by the small MCI sample size. AD showed elevated MPV, neutrophil-lymphocyte imbalance, and mild normocytic anaemia. NEVs in AD had higher protein and reduced AChE activity. NEV-MPV correlations reversed across stages (MCI r = -0.42; AD r = 0.45). Classification accuracy reached 74-83%. Integrated NEV and haematologic changes suggest a continuum from early adaptive responses to progressive neurovascular-immune dysregulation during neurodegenerative disease progression. Findings should be interpreted in the context of L1CAM-enriched vesicles and require validation in larger cohorts.

A woman in her 80s with a background of a coronary artery bypass graft (CABG) presented with chest pain. Initial investigations revealed an elevated D-dimer, normocytic anaemia and right-sided pleural effusion. CT pulmonary angiogram ruled out a pulmonary embolism but revealed an incidental cyst-like rounded lesion next to the ascending aorta. A triphasic CT of the chest confirmed this to be an aneurysm arising from the right coronary artery bypass vein graft, measuring 5.4 cm. After the multidisciplinary team meeting discussion, the likely diagnosis was thought to be a ruptured aneurysm, leading to a haematoma formation and right-sided haemothorax. Conservative management was chosen following multidisciplinary discussion and shared decision-making with the patient and family, and patient unfortunately did not survive admission. This case highlights rare and life-threatening complication of vein graft aneurysms and the importance of early recognition and individualised management plans.

This study aimed to assess the prevalence and characteristics of previously undiagnosed anemia among children in Taif. The objective was to estimate the prevalence of undiagnosed anemia in a broader pediatric population (aged 2-12 years) across 3 hospitals, and to evaluate severity and morphological patterns. A cross-sectional study was conducted across Taif region's main hospitals serving children; including Taif Children's Hospital, King Faisal Hospital, and Taif Armed Forces Hospitals. A total of 264 children aged 2 to 12 years, presenting to outpatient clinics or emergency departments for acute, non-hematological conditions, were included. Children with previously diagnosed anemia or chronic diseases were excluded. Blood samples were collected to measure hemoglobin (Hb) levels, and anemia was diagnosed based on age-specific Hb thresholds. Descriptive statistics, chi-square tests, and independent t tests were used for data analysis. Out of 264 children, 28 (10.6%) were found to have undiagnosed anemia. The majority (75%) were aged 2 to 5 years, and a higher prevalence was noted among males (67.9%) compared to females (32.1%), though the gender difference was not statistically significant. There was a significant association between younger age and anemia (P < .001). Mean Hb levels were significantly lower in anemic children (10.13 ± 0.90 g/dL) than in non-anemic children (13.11 ± 0.93 g/dL; P < .001). Most cases were mild (71.4%), followed by moderate anemia (28.6%). Normocytic normochromic anemia was the most common type (53.6%), followed by microcytic hypochromic (39.3%) and macrocytic anemia (7.1%). This study highlights a notable prevalence of undiagnosed anemia among children in Taif, particularly in the preschool age group. The findings underscore the need for routine screening in pediatric outpatient and emergency settings, even in the absence of overt symptoms. Early detection and intervention are essential to prevent long-term developmental complications. Public health efforts should focus on nutritional education, iron supplementation, and comprehensive diagnostic evaluations to address this hidden burden.

Pulmonary hemosiderosis is a rare and severe respiratory condition in children corresponding to chronic alveolar haemorrhage. Combined immune deficiencies are considered rare diseases, characterised by a quantitative or qualitative defect of T lymphocytes, associated or not with a complete or partial deficiency of immunoglobulin synthesis. We report a rare association of pulmonary hemosiderosis and class II HLA deficiency. Infant T, aged 9 months, was admitted for acute respiratory distress and pallor. The clinical examination found a marked mucocutaneous pallor, arterial oxygen saturation at 87%, a respiratory rate at 65 cycles/min, with diffuse crackling rales at both pulmonary hemifields. The blood count objectified with regenerative normocytic normochrome anemia and neutropenia. In addition, there was a CRP at 59 mg/l, a positive direct Coombs test, and a ferritin level elevated to 1095 ng/ml. Chest CT showed an aspect in favor of severe bilateral interstitial lung disease. The cytological study of bronchoalveolar lavage objectified a hemorrhagic fluid, with the cytological study siderophage at 46%, a positive Perls staining and a Gold score of 187. The immune assessment made it possible to make the diagnosis of combined immune deficiencies by HLA class II deficiency. T was put on antibiotic therapy, two blood cell transfusions, general corticosteroid therapy, nebulizations of salbutamol, Pulmicort, and an infusion of versatile immunoglobulins. The evolution was favorable. Treatment with allogeneic hematopoietic stem cell transplantation is ongoing. This observation recalls the importance of questioning the diagnosis of acute bronchiolitis, especially when the evolution seems atypical and unusual.