Pyruvate kinase deficiency (PKD) is a rare autosomal recessive enzymatic disorder causing chronic non-spherocytic hemolytic anemia. Pyruvate kinase deficiency is frequently overlooked because its presentation overlaps with more common causes of chronic hemolytic anemia, potentially resulting in prolonged diagnostic delay and inappropriate management. We report a 34-year-old Nepalese man with lifelong anemia who had been managed as thalassemia since infancy. Clinical examination revealed pallor, icterus, and massive splenomegaly. Laboratory investigations demonstrated chronic hemolytic anemia with a hemoglobin level of 8.1 g/dL, reticulocyte count of 12.5
Sneddon Syndrome (SS) is a rare medium-vessel vasculopathy characterized by livedo reticularis and ischemic cerebrovascular events. In some cases, it is associated with antiphospholipid antibodies (aPL), suggesting an autoimmune mechanism. However, SS can occur without aPL, representing an idiopathic variant with poorly understood pathophysiology. This report presents a case of SS without aPL, highlighting diagnostic challenges and potential links to prior inflammatory processes, such as rheumatic fever. A 35-year-old white woman with a history of childhood rheumatic fever presented with progressive livedo reticularis over 11 years, initially without associated symptoms. Five years prior, she developed tonic–clonic seizures and transient right upper limb motor deficits. Imaging revealed cerebral white matter ischemic lesions consistent with microangiopathy. Skin biopsy showed no thrombi, and aPL serology was negative. Management included antiplatelet therapy and adjusted anticonvulsants, leading to partial neurological improvement. This case underscores the diagnostic challenges of SS without aPL, often leading to delayed recognition and delayed ischemic event prevention. The patient’s rheumatic fever history raises an underexplored question: could prior inflammatory processes trigger endothelial dysfunction and microangiopathy in SS? While no direct evidence exists, a potential underlying autoimmune component warrants further investigation. Idiopathic SS treatment lacks consensus, though anticoagulation and anticonvulsants may reduce symptoms. However, no therapies are proven to alter disease outcomes. SS without aPL lacks established guidelines, complicating diagnosis and management. This case emphasizes the need for individualized approaches beyond aPL status. The patient’s rheumatic fever history may hint at an unexplored inflammatory mechanism in SS pathophysiology, meriting future study.
Acute myeloid leukemia (AML) remains a challenging hematological malignancy due to its heterogeneous nature and the complexity of its genetic underpinnings. Recent advances in genetic research have illuminated the position of the CCAAT/Enhancer Binding Protein Alpha (CEBPA) gene in AML pathogenesis, highlighting its importance in regulating granulocytic lineage differentiation. This study reports a unique case of AML in a 25-year-old man from Iran, characterized by novel monoallelic mutations inside the CEBPA gene, namely a deletion mutation (c.129 delC) and a duplication mutation (c.929_957dup), located in the N-terminal and C-terminal domains of the CEBPA protein. These mutations, identified through comprehensive genetic analysis of bone marrow samples, represent a significant contribution to the understanding of AML genetics. The patient’s clinical course, marked by rapid disease progression and treatment-associated complications, underscores the critical need for personalized treatment strategies informed by genetic profiling. The absence of these mutations in public databases and their pathogenic confirmation through bioinformatics tools suggest their potential as previously undocumented genetic variants influencing AML development. This case report emphasizes the importance of genetic testing in AML diagnosis and management, providing insights that might guide the development of targeted treatments and enhance patient care. The discovery of these novel CEBPA mutations not only expands our understanding of AML’s genetic variety but also highlights the potential for precision medication in transforming treatment outcomes.
Multiple myeloma (MM) is a plasma cell malignancy that typically presents with systemic features such as anemia, bone pain, renal dysfunction, and osteolytic lesions. Occasionally, the maxillofacial region is among the first sites to reveal the disease in patients who lack the overt systemic symptoms that would ordinarily prompt medical evaluation, posing a diagnostic challenge. In such situations, imaging performed during routine dental care may provide the earliest clue to an underlying malignancy. This report illustrates how orthopantomography (OPG) can serve as a valuable first-line screening modality in the dental setting, raising suspicion of MM in a patient without overt systemic symptoms and prompting the systemic workup required to establish the diagnosis. A 50-year-old South Asian female presented with a progressively enlarging swelling over the right lower jaw for two months, without associated systemic symptoms. Clinical examination revealed a hard, non-tender swelling involving the right mandibular body and ramus with tooth mobility. Panoramic radiography demonstrated ill-defined osteolytic lesions in the right mandible along with multiple radiolucencies on the contralateral side and altered trabecular pattern. Hematological investigations revealed anemia and renal dysfunction. FNAC suggested a hematolymphoid neoplasm. Skeletal survey showed multiple punched-out lesions in the skull, clavicle, and pelvis. Serum protein electrophoresis revealed an monoclonal spike (M-spike) with monoclonal gammopathy, and immunofixation confirmed IgG-kappa type. Bone marrow examination demonstrated plasma cell infiltration, establishing the diagnosis of multiple myeloma. This case highlights the value of orthopantomography as a first-line screening modality in the dental setting, capable of raising early suspicion of an underlying systemic malignancy when atypical oral findings are encountered. Although the definitive diagnosis required hematological, biochemical, and bone marrow evaluation, vigilant recognition of suspicious radiographic features by oral medicine specialists can prompt timely systemic workup and referral, which may meaningfully influence patient prognosis.
Tacrolimus is a cornerstone immunosuppressant in kidney transplantation with a narrow therapeutic index and high interindividual pharmacokinetic variability, largely determined by CYP3A4, CYP3A5, and P-glycoprotein activity. Grapefruit juice is a known intestinal CYP3A4 inhibitor capable of increasing tacrolimus exposure, whereas blood orange juice has not been documented to exert such effects. A 33-year-old male kidney transplant recipient of Somali origin had persistently low tacrolimus trough levels, averaging about 4.5 µg/L, despite increased dosing. On postoperative day 5 (POD 5), the patient consumed approximately one liter of blood orange juice followed later the same evening by a clinically supervised 250 mL dose of grapefruit juice intended to enhance tacrolimus exposure. The following morning, his tacrolimus concentration had risen sharply sixfold to 30 µg/L, far above the increase typically associated with grapefruit juice alone. Kidney biopsy at that time showed eosinophilic infiltration, consistent with a drug-related inflammatory reaction. Tacrolimus therapy was temporarily stopped, then gradually reintroduced. His condition stabilized, and he was discharged on POD 12. The pronounced increase in tacrolimus exposure following sequential ingestion of blood orange and grapefruit juice suggests a potential synergistic interaction affecting tacrolimus disposition via CYP3A4, CYP3A5 and/or P-glycoprotein pathways. While causality remains unconfirmed, this case emphasizes the value of thorough dietary history in transplant care and supports further research on blood orange juice as a possible modulator of tacrolimus pharmacokinetics.
Free liquid silicone injection (FLSI) cases are still sporadically encountered despite advances in breast augmentation techniques. The American College of Radiology (ACR) guidelines support the use of breast magnetic resonance imaging (MRI) for silicone complication mapping in conventional medical-grade implant cases. However, FLSI-related complications remain lesser-known in clinical practice. A limited familiarity with their imaging appearances hinders accurate image interpretation and timely clinical management. This case series illustrates uncommonly reported multimodal imaging variations of siliconomas with histopathologic correlation. Two 56-year-old women (one Malay and one Chinese) with histories of FLSI presented with a unilateral breast lump and nipple discharge, respectively. Both patients underwent mammography, ultrasonography and MRI. Mammography showed innumerable siliconomas, potentially obscuring malignant lesions. In both cases, ultrasonography had limited diagnostic value. Dynamic contrast-enhanced MRI provided superior visualization but remained challenging to interpret due to the multiplicity of lesions and overlapping imaging features between benign silicone-related complications and malignancy. Both patients had uneventful surgeries, and histopathology confirmed the final diagnoses. This case series is a preliminary step toward larger longitudinal cohort studies, aimed at characterizing the full spectrum of FLSI imaging appearances. Improved understanding can reduce diagnostic uncertainty where silicone-related changes obscure or mimic malignancy. These case findings also highlight the need for standardized, evidence-based, FLSI-specific imaging protocols and clinical guidelines to support informed decision-making and optimize patient care.
Ceftriaxone is recommended as first-line therapy for uncomplicated gonorrhea worldwide. Although highly effective, persistent nucleic acid amplification test (NAAT) positivity after recommended therapy has been reported. A man in his 30s (Asian) presented with purulent urethral discharge. NAAT confirmed Neisseria gonorrhoeae. He received intravenous ceftriaxone 1 g. Despite clinical resolution, a test-of-cure NAAT performed 21 days later remained positive. Intramuscular spectinomycin 2 g was subsequently administered; however, NAAT remained positive 25 days after spectinomycin administration in the absence of sexual re-exposure. Oral cefixime (200 mg once daily for 3 days) was then prescribed. A follow-up NAAT performed 19 days after completion of cefixime therapy was negative. The patient remained asymptomatic throughout follow-up. This case highlights the challenges of interpreting persistent NAAT positivity following recommended therapy for uncomplicated gonorrhoea. In the absence of culture and antimicrobial susceptibility testing, the clinical significance of prolonged NAAT positivity remains uncertain, and true treatment failure cannot be distinguished from prolonged persistence of nonviable bacterial DNA or possible reinfection. This report underscores the potential value of test-of-cure in selected clinical situations and the need for cautious interpretation of post-treatment NAAT results.
Iatrogenic contralateral foraminal stenosis is a not uncommon complication following unilateral transforaminal lumbar interbody fusion (TLIF). Notably, secondary contralateral foraminal stenosis induced by overcorrection of spondylolisthesis during TLIF is not a rare clinical event but remains underrecognized. This case report presents a successful minimally invasive management of this complication via transforaminal endoscopic lumbar foraminotomy, carrying important cautionary significance for clinical practice. This study aims to alert surgeons to avoid this iatrogenic complication and provide a specific procedural approach for its management when it occurs. A 64-year-old Han Chinese male patient, diagnosed with L4-5 lumbar spondylolisthesis and L5-S1 lumbar disk herniation, experienced contralateral radiculopathy affecting the right L4 nerve root subsequent to a unilateral TLIF procedure. A computed tomography (CT) scan revealed significant right L4-5 foraminal stenosis caused by excessive correction of spondylolisthesis. Then he received transforaminal endoscopic lumbar foraminotomy, which led to significant pain reduction and functional enhancement. This case illustrates a scenario of endoscopic decompression addressing iatrogenic contralateral foraminal stenosis, resulting from overcorrection of spondylolisthesis. It effectively showcases the efficacy of this minimally invasive approach in managing such complications. Additionally, the occurrence of iatrogenic posterior spondylolisthesis should be meticulously avoided during the TLIF procedure.
Central pancreatectomy (CP) is a targeted surgical procedure that involves removal of lesions in the neck and proximal body of the pancreas that are unsuitable for enucleation due to their deep-seated location within the gland. The procedure is rarely done in most sub-Saharan African centers due to resource limitations and technical abilities. We present a 54-year-old Black Ghanaian woman of the Akan ethnic group, who presented with a year’s history of upper abdominal symptoms which was confirmed to be an adenoma of the neck of pancreas. CP was performed in a resource-limited setting with good outcome. Central pancreatectomy may be a safe and effective organ-preserving option for selected benign and low-grade tumors located at the neck and body of the pancreas, particularly when performed by experienced surgeons in appropriately selected patients.
Idiopathic calcinosis cutis is a rare condition characterized by calcium salt deposition in the skin without underlying systemic disease. It presents significant diagnostic challenges, particularly when it occurs outside of typical associations such as connective tissue diseases. A 30-year-old Pakistani female with no systemic disease presented with an 8-year history of a progressively enlarging, painful lesion in the right axilla. The lesion, initially a small, painless nodule, had grown to 12×12 cm with hard, tender areas and chalky white deposits. Diagnostic imaging and biopsy confirmed idiopathic calcinosis cutis. Treatment involved en-bloc excision and split-thickness skin grafting. The patient had no recurrence at the 6-month follow-up. This case underscores the rarity of idiopathic calcinosis cutis in the axilla without systemic disease and highlights the need for accurate diagnosis and tailored management of atypical calcified skin lesions.
High-dose methotrexate (HD-MTX) is a cornerstone of chemotherapy for pediatric osteosarcoma but frequently induces severe oral mucositis, a dose-limiting toxicity characterized by painful ulceration and impaired oral function. While standard supportive care includes leucovorin rescue, hydration, and analgesics, topical agents like doxepin mouthwash offer pain relief, and allopurinol may provide mucosal protection through antioxidant effects. We report a 16-year-old male with osteosarcoma who developed World Health Organization grade 4 oral mucositis on day 3 following his first cycle of HD-MTX (10 g/m2). The symptoms included severe odynophagia, dysphagia, and extensive ulcerative lesions, necessitating partial parenteral nutrition. Treatment involved dual topical therapy with doxepin (0.5
Bardet–Biedl syndrome is a rare autosomal recessive ciliopathy that may be diagnosed clinically in resource-limited settings where molecular testing is unavailable. Autoimmune pernicious anemia has been rarely described in association with BBS, and its relationship to BBS-related immune dysregulation remains uncertain. We report an 18-year-old Pakistani woman of Pashtun ethnicity from a consanguineous family who presented with four months of progressive fatigue, weakness, pallor, and exertional dyspnea. Evaluation revealed severe macrocytic anemia due to vitamin B12 deficiency, with positive anti-intrinsic factor and anti-parietal cell antibodies confirming autoimmune pernicious anemia. Further history identified childhood-onset retinal dystrophy progressing to blindness, postaxial polydactyly, developmental delay, primary amenorrhea, bilaterally small kidneys, diabetes mellitus, parental consanguinity, and a similarly affected sibling. She fulfilled all six major and two minor clinical diagnostic criteria for Bardet–Biedl syndrome; molecular confirmation could not be arranged because of resource limitations. She improved after packed red cell transfusion and intramuscular cyanocobalamin and was discharged on lifelong vitamin B12 replacement. This case documents a rare co-occurrence of autoimmune pernicious anemia in a patient clinically fulfilling all major criteria for Bardet–Biedl syndrome in a resource-limited setting where molecular confirmation was unavailable. While a single clinical case cannot establish causality or exclude overlapping conditions, the observation is biologically plausible in light of emerging evidence linking ciliary dysfunction to immune dysregulation. Clinicians managing patients with suspected or confirmed BBS should maintain vigilance for autoimmune pernicious anemia when evaluating unexplained macrocytic anemia or vitamin B12 deficiency.
3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH), typically presenting with salt-wasting and, in females, ambiguous genitalia, or undervirilization in males. We report the case of a 10-day-old female infant who presented with feeding difficulties, generalized skin hyperpigmentation, and hyperkalemia, yet had completely normal external genitalia. Genetic analysis identified compound heterozygous variants in the HSD3B2 gene: a novel, maternally inherited in-frame deletion, c.64_66del (p.Leu22del), currently classified as a variant of uncertain significance (VUS) according to ACMG/AMP guidelines; and a paternally inherited, likely pathogenic missense variant, c.674 T>A (p.Val225Asp). The c.64_66del variant has not been previously reported; it forms compound heterozygosity with the paternal likely pathogenic variant, consistent with an autosomal recessive inheritance pattern. However, its independent pathogenicity remains to be confirmed by functional studies. This case emphasizes that 3β-HSD deficiency should be suspected in neonates with salt-wasting manifestations, even with completely normal external genitalia (Prader stage 0). The identification of this novel c.64_66del VUS adds to the allelic repertoire of the HSD3B2 gene and underscores the importance of early genetic testing, which strongly supports the diagnosis while also emphasizing the need for functional studies to clarify the pathogenicity of uncertain variants.
High-density material identified in the stomach on computed tomography (CT) most commonly represents ingested drugs, oral contrast agents, or blood. Distinguishing between these is critical, as misidentifying drugs or contrast as active gastric bleeding may lead to unnecessary interventions. We report a rare cause of hyperdense gastric material on CT, other than the three etiologies mentioned above. A 25-year-old man with Crohn’s disease presented to the gastroenterology department with suspected disease recurrence. At 11:20, a gastroscopy identified an antral ulcer, bile reflux, and a duodenal stricture, through which the gastroscope (approximately 10 mm in width) was able to pass. A subsequent CT enterography performed at 13:49 revealed several round, high-density lesions within the stomach on non-contrast and contrast CT images, which appeared distinct from the surrounding gastric mucosa. While retained oral medication was initially suspected, the patient confirmed he had ingested nothing other than a 2.5
Ganglioneuromas are benign, fully differentiated neuroblastic tumors that typically arise in the posterior mediastinum, retroperitoneum, or adrenal glands. Primary involvement of the urinary bladder is exceedingly uncommon, particularly in association with neurofibromatosis type 1 (NF1). A 16-year-old Arab male from a medically underserved area presented with a three-year history of chronic pelvic pain, lower urinary tract symptoms (both irritative and obstructive), and a palpable hypogastric mass. He also reported chronic constipation for 1 year and intermittent gross hematuria for 3 months. At age seven, he had undergone an open biopsy of a pelvic mass diagnosed as a neurofibroma, but was subsequently lost to follow-up due to geographic, financial, and social barriers. Clinical examination revealed multiple (7–8) café-au-lait spots on the back, abdomen, and lower limbs, axillary freckling, and notable penoscrotal edema. Digital rectal examination demonstrated a markedly enlarged, indurated prostate. Contrast-enhanced computed tomography and magnetic resonance imaging revealed a large, irregular, heterogeneous pelvic mass (approximately 11 × 5 cm) with infiltrative features involving the posterior bladder wall, prostate, and perineal region, extending superiorly to the umbilicus. Cystoscopy showed extrinsic trigonal compression with non-visualization of the ureteral orifices due to significant distortion. Intraoperative findings confirmed extensive tumor infiltration into the prostate, precluding safe partial resection. The patient underwent radical cystoprostatectomy with ileal conduit urinary diversion (Bricker procedure). Histopathological examination demonstrated a well-circumscribed but unencapsulated mass composed of interlacing bundles of bland spindle-shaped cells with wavy nuclei in a collagenous and myxoid stroma, with scattered mature ganglion cells. Immunohistochemical staining was diffusely positive for S100 and SOX10. Separate pelvic floor biopsies were consistent with plexiform neurofibroma. Surgical margins were negative. Postoperative recovery was uneventful, and at one-year follow-up, the patient remained asymptomatic with no evidence of recurrence. This case highlights the aggressive local potential of pelvic plexiform neurofibromas and associated ganglioneuromas in NF1, which can lead to significant morbidity when surveillance is interrupted. It underscores the critical importance of lifelong, structured multidisciplinary follow-up in NF1 patients to detect progression before irreversible damage occurs. This report contributes to the limited literature on urogenital ganglioneuroma management and raises consideration for earlier intervention in strategically located lesions, as well as the potential role of emerging targeted therapies such as MEK inhibitors.
Usher syndrome (USH) is an inherited disorder characterized by hearing loss, progressive retinal degeneration and variable vestibular dysfunction. It is categorized into three major clinical subtypes, and Type I (USH1) is the most severe which characterized by severe to profound congenital sensorineural deafness, vestibular hypofunction, and prepubertal onset retinitis pigmentosa. Six genes have been reported to be associated with USH1 and MYO7A mutation is found in 29–60
Blau syndrome is a rare NOD2-associated autoinflammatory disorder characterized by granulomatous arthritis, dermatitis, and uveitis. Ocular involvement may be severe in pediatric patients. Detailed reports on cataract surgery and postoperative management in children with Blau syndrome remain limited. A 7-year-4-month-old Chinese girl with genetically confirmed Blau syndrome presented with decreased vision in both eyes. Her articular manifestations were well controlled under systemic treatment, but she developed severe bilateral ocular involvement, including chronic uveitic changes, complicated cataracts, and vitreous opacities. Sequential cataract surgery with in-the-bag intraocular lens implantation, posterior capsulotomy, and anterior vitrectomy was performed in both eyes. Although visual acuity initially improved, she later developed severe postoperative inflammation, fibrocellular proliferation on the intraocular lens surface, pupillary block, iris bombe, and secondary glaucoma in the right eye. Treatment required intensified anti-inflammatory and immunomodulatory therapy and peripheral iridectomy. Short-term follow-up showed improvement in intraocular pressure and visual acuity. In Blau syndrome, ocular inflammation may progress despite good control of articular manifestations. Lifelong ophthalmic surveillance is essential, even when systemic disease appears well controlled. In children requiring cataract surgery, careful timing, optimized perioperative systemic and topical anti-inflammatory treatment, and close postoperative monitoring are important to reduce postoperative inflammatory complications.
Nasopharyngeal carcinoma may initially present with otologic symptoms. When the laterality of otologic symptoms is discordant with that of a nasopharyngeal lesion and magnetic resonance imaging (MRI) gives a benign-appearing impression, clinical judgment may be misled. A 62-year-old Han Chinese man presented with a 5-day history of left aural fullness after an upper respiratory tract infection and was initially treated for presumed left otitis media with effusion. Three days later, because the symptoms persisted, otoendoscopy and rigid nasal endoscopy were performed. Otoendoscopy showed persistent left middle ear effusion, whereas rigid nasal endoscopy revealed an elevated lesion approximately 1 cm in size on the right posterior-superior wall of the nasopharynx near the pharyngeal recess, with a smooth mucus-covered surface. Contrast-enhanced MRI favored an inflammatory lesion with a small retention cyst or a small inflammatory polypoid lesion; however, endoscopic biopsy confirmed poorly differentiated non-keratinizing nasopharyngeal carcinoma. Plasma Epstein–Barr virus (EBV) DNA was 2.54 × 103 copies/mL, EBV viral capsid antigen immunoglobulin G was > 750 U/mL, and EBV viral capsid antigen immunoglobulin M was negative. After multidisciplinary review, the disease was staged as cT1N1M0, stage II. The patient received three cycles of induction gemcitabine plus cisplatin followed by intensity-modulated radiotherapy with concurrent weekly cisplatin. Follow-up nasal endoscopy and contrast-enhanced MRI showed interval shrinkage of the nasopharyngeal lesion. This case highlights a diagnostic pitfall in which contralateral otologic symptoms and a benign-appearing MRI impression masked nasopharyngeal carcinoma. In adults with persistent unilateral middle ear effusion, the possibility of nasopharyngeal malignancy should still be considered even when symptom laterality is discordant and MRI appears non-neoplastic. If nasal endoscopy reveals an abnormal nasopharyngeal lesion, prompt histopathological confirmation is warranted.
Stevens‑Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe cutaneous adverse reactions that may be accompanied by multi‑organ involvement and high mortality. TEN complicated by bronchiolitis obliterans (BO) is extremely rare among children. We describe severe TEN complicated by bronchiolitis obliterans (BO) in an 11‑year‑old ethnic Chinese boy. The patient mainly presented with fever, cough, rash, and shortness of breath. After the diagnosis of TEN, comprehensive treatments including intravenous immunoglobulin, systemic glucocorticoids, plasma exchange, tumor necrosis factor‑α receptor antagonist, and integrated skin and mucosal care were administered. Although the acute disease became stable, BO developed during the clinical course. The patient achieved favorable clinical outcomes after bronchoscopic holmium laser ablation. Early diagnosis, comprehensive multimodal treatment, and long‑term multidisciplinary physical‑mental follow‑up are crucial to improve the prognosis of children with TEN.
Penile gangrene is a rare but severe clinical emergency, typically linked to advanced diabetes or chronic renal failure. We report the case of an 85-year-old male with a severe cerebrovascular history who presented with apparently localized glans gangrene. Although a standard partial penectomy was initially planned, intraoperative exploration revealed extensive deep corporal necrosis, ultimately necessitating an immediate conversion to a total penectomy. This case strongly highlights that surface clinical signs frequently underestimate deep tissue damage. Therefore, advanced preoperative imaging, particularly MRI, is crucial, and informed consent must explicitly include the potential need for total penectomy during unexpected surgical findings.
