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.

BACKGROUND NFE2 encodes p45/NF-E2, a transcriptional regulator of megakaryocyte maturation and platelet production. However, germline NFE2-associated cytopenias are rare; consequently, the clinical spectrum is incompletely defined. CASE REPORT We report the case of a preterm neonate born to consanguineous parents who developed day-1-onset bicytopenia with transfusion-dependent thrombocytopenia and intermittent normocytic anemia. Initial evaluation did not support immune-mediated or consumptive causes; moreover, counts were refractory to intravenous immunoglobulin and romiplostim (a thrombopoietin-receptor agonist). Bone marrow examination showed dysmegakaryopoiesis with a paucity of late megakaryocyte forms, supporting defective terminal maturation. Trio sequencing with copy-number analysis identified a homozygous in-frame NFE2 duplication (c.889_900dup; p.Glu297_Arg300dup); both parents were heterozygous carriers, consistent with autosomal-recessive segregation. The duplication lies within the CNC region, adjacent to the basic leucine zipper module implicated in DNA binding and small Maf partner dimerization. Therefore, segregation, domain context, marrow morphology, and TPO-RA non-response implicate NFE2 as the leading etiologic signal, although the variant remains of uncertain significance. CONCLUSIONS This case broadens the emerging NFE2 phenotype to neonatal-onset refractory bicytopenia with dysmegakaryopoiesis and, accordingly, supports a downstream p45/NF-E2 transcriptional maturation defect rather than impaired THPO-MPL signaling. Persistent neonatal cytopenias with dysmegakaryopoiesis and failure of immune-directed therapy and TPO-RA treatment should, therefore, prompt early germline evaluation, ideally trio sequencing with CNV analysis. Finally, targeted functional studies (transactivation, DNA binding, partner interaction) are needed to generate PS3-level evidence and enable definitive reclassification.

Burkitt lymphoma is a highly aggressive B-cell malignancy characterized by rapid proliferation and a narrow therapeutic window in which early recognition of disease progression is critical to prevent morbidity. While diagnosis is typically established through histopathology and imaging, evolving physiologic and radiographic changes may provide early indicators of aggressive disease behavior, particularly in the post treatment setting. We present a 26-year-old male patient with previously treated Epstein-Barr virus-positive Burkitt lymphoma who presented with acute lower back pain, urinary symptoms, and rapid clinical deterioration consistent with disease progression. Laboratory evaluation demonstrated normocytic anemia, markedly elevated lactate dehydrogenase, progressive leukocytosis, and hypoalbuminemia, consistent with a high tumor burden. Cross-sectional imaging revealed interval enlargement of a necrotic pelvic mass with associated hydronephrosis, while MRI demonstrated diffuse marrow infiltration. Fluorodeoxyglucose-Positron emission tomography/Computed tomography (FDG PET/CT) showed extensive hypermetabolic disease involving nodal and extranodal sites, consistent with systemic progression. Peripheral blood flow cytometry failed to identify a clonal B-cell population, a finding consistent with known limitations of circulating markers in Burkitt lymphoma, particularly following recent chemotherapy. This case highlights a physiologic pattern of oncologic emergency, defined by integrated laboratory abnormalities, imaging progression, and clinical decline as indicators of disease progression. Recognition of these features may facilitate timely therapeutic escalation despite inconclusive peripheral findings.

Parvovirus B19 infection can closely mimic flares of autoimmune diseases such as rheumatoid arthritis, posing diagnostic challenges. We report a case of a 50-year-old man with seropositive rheumatoid arthritis who presented with acute symmetrical polyarthropathy, a transient rash, and profound anaemia. Initially managed as a rheumatoid flare, further evaluation revealed severe normocytic anaemia with reticulocytopenia. Bone marrow aspiration demonstrated pure red cell aplasia with characteristic giant proerythroblasts containing intranuclear inclusions. Parvovirus B19 DNA was detected by polymerase chain reaction. The patient was treated with intravenous immunoglobulin, resulting in rapid hematologic recovery and resolution of symptoms. This case underscores the importance of considering parvovirus B19 as a differential diagnosis in immunocompromised or chronically ill patients presenting with atypical rheumatologic or hematologic features. Early recognition and appropriate therapy are essential to avoid misdiagnosis and ensure optimal patient outcomes.

Lymphomatoid granulomatosis is a rare lymphoproliferative disease caused by dysfunction of host surveillance of Epstein-Barr virus (EBV)-infected B cells, which predominantly affects male adults, with a median onset at 46 years. Diagnosis can be challenging due to its nonspecific symptoms and the need for careful histopathological evaluation, particularly in atypical presentations. Here, we present a case of a 42-year-old Black man from Senegal with no past medical history who presented with a chronic, non-healing ulcer on his right upper extremity that had worsened over six months. Family history revealed a sister with kidney disease who required early dialysis. Initial vital signs showed a blood pressure of 178/123 mmHg and a heart rate of 127 beats/min, with normal temperature and oxygen saturation. A 4 × 5 cm crusted, non-tender stage 3 ulcer with hyperpigmented edges was found on his right arm. Laboratory tests showed pancytopenia, stage 5 chronic kidney disease with nephrotic-range proteinuria, and normocytic anemia. Blood cultures, HIV, and leishmaniasis tests were negative, and chest radiograph findings were normal. Initial evaluation also revealed chronic hepatitis B infection. CT raised concern for osteomyelitis, but MRI was negative. Skin biopsy showed nonspecific inflammatory changes, and cultures revealed methicillin-sensitive Staphylococcus aureus. He received antibiotics with minimal improvement. Five weeks later, he was readmitted with worsening constitutional symptoms, uremia requiring dialysis, and progression of the skin lesion. A repeat skin biopsy revealed an EBV-positive lymphoproliferative disorder consistent with grade 3 lymphomatoid granulomatosis, with predominance of CD4+ T cells. Molecular studies revealed an ATM gene mutation (p.Asn2282Ser) and acquired trisomy X with a normal Y chromosome. The ulcer improved without any further intervention. This case underscores the need for heightened clinical suspicion, repeat tissue sampling, and early dermatologic evaluation, which are critical for diagnosis.

Diamond-Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain-of-function mutations in TP53 have been identified as a novel cause of Diamond-Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p.(Ser362AlafsTer8)). They exhibited normocytic anemia, transient neutropenia at presentation, and distinct neurological impairments. Neither patient responded to a corticosteroid trial. One patient underwent hematopoietic stem cell transplantation from a matched sibling donor and remained transfusion-independent at last follow-up. This study emphasizes the complexity of TP53-associated Diamond-Blackfan anemia syndrome and presents the only patient to date cured by hematopoietic stem cell transplantation.

Jehovah's Witnesses are a religious group whose beliefs regarding blood transfusion may pose important clinical and ethical challenges. As such, more patients refuse whole-blood transfusions. Patients with hip fractures often present with anemia, which increases the likelihood of requiring perioperative blood transfusion and increases morbidity and mortality after surgery. We present here the case report of an 80-year-old female patient, a Jehovah's Witness, with no previous history of thromboembolic events. She was admitted due to a right hip fracture after a fall from a standing height. She revealed pain mobilizing the right lower limb, with external rotation and shortness of the limb. Radiological exams showed a right femoral neck fracture. Lab analysis showed iron deficiency anemia (hemoglobin (Hb) 7.2 g/dL, normocytic and normochromic, serum iron 54.9 µg/dL, ferritin 146 ng/mL, and transferrin saturation (TSAT) 17%; serum folate 5.6 ng/mL and vitamin B12 1229 pg/mL). The patient was treated with intravenous iron supplementation, folic acid, and epoetin beta (30,000 IU twice weekly), to reach a goal of Hb 10 g/dL. One month after the initial trauma, the patient presented with Hb 11 g/dL and hematocrit 33.2% and underwent hip surgery. On post-surgery day 1, Hb decreased to 8.1 g/dL, hematocrit 24.5%, serum iron 68 µg/dL, ferritin 781 ng/mL, and TSAT 27%, with no blood transfusion needed afterward. One more epoetin beta administration was performed in the immediate postoperative period. The patient experienced a positive clinical and analytical evolution with progressive improvement in physical function and Hb levels above 11 g/dL. The treatment strategy effectively enabled hip fracture surgery in this patient, improving the patient's outcomes without any postoperative safety issues.