Primary seminal vesicle adenocarcinoma (PSVA) is an extremely rare neoplasm whose pathogenesis is currently unknown. Most patients present with non-specific genitourinary symptoms such as hematuria, hematospermia and weak urinary stream, which can delay diagnosis.  As such, it is not uncommon for many of these cases to be diagnosed with already locally advanced disease or distant metastasis.  The differential diagnosis includes metastatic adenocarcinoma from the prostate, bladder, or colon, which are exceedingly more common and must first be excluded.  We present a case of PSVA in a 51-year-old man presenting with hematuria and intermittent hematospermia.  Imaging studies revealed a large, heterogeneous mass expanding the right seminal vesicle.  Initially, a core needle biopsy showed findings suggestive of a mixed epithelial and stromal tumor (MEST). However, histopathologic examination following robotic excision of the mass revealed PSVA. Next-generation sequencing (NGS) revealed a pathogenic variant (c. 146 C>T) in the TERT promoter. The patient received... Continue Reading

Hypothalamic hamartoma (HH) is a rare congenital, non-neoplastic lesion of the hypothalamus, commonly presents with gelastic seizures, precocious puberty, or both. Gamma Knife radiosurgery (GKRS) has emerged as a minimally invasive treatment option, although long-term outcomes remain incompletely characterized. We report three pediatric patients with HH treated with single-session GKRS and evaluate their long-term clinical and radiological outcomes. All patients presented with gelastic seizures and precocious puberty, accompanied by varying degrees of cognitive, behavioral, or developmental impairment. Lesions were classified as Delalande type II–III, with target volumes ranging from 2.100 to 6.140 cm³. Following GKRS, seizure outcomes were heterogeneous. The first patient achieved substantial seizure control (Engel class ID) nearly four years after treatment, accompanied by cognitive improvement and reduction in antiseizure medication burden. The second patient experienced marked seizure improvement, including two years of complete remission (Engel class IA), but developed late seizure recurrence approximately five years after treatment... Continue Reading

Background: Germline CHEK2 mutations confer a significant risk of developing multiple malignancies, often at an earlier age than in the general population. While less widely recognised than BRCA1/2, CHEK2 is increasingly clinically relevant and requires tailored surveillance and multidisciplinary management. Case Presentation: We report a 57-year-old man from northern Portugal, a carrier of a germline CHEK2 mutation, who developed three primary malignancies over a decade: renal cell carcinoma, rectal adenocarcinoma, and papillary thyroid carcinoma. His family history revealed clustering of cancers, including breast, prostate, laryngeal, brain, and sarcoma, with a paternal aunt confirmed as a CHEK2 carrier. Care was organised longitudinally, with primary care playing a central role in coordinating follow-up across oncology, genetics, endocrinology and haematology. Despite a heavy oncological burden and ongoing tobacco exposure, the patient consistently showed optimism, trust in his medical team and good engagement with follow-up, reflecting a high level of psychosocial resilience. Conclusion: Our... Continue Reading

Background: Hypophosphatemia is a recognized complication during the treatment of severe acute malnutrition (SAM) in children and may contribute to refeeding syndrome. Data on the longitudinal profile of serum phosphate using locally prepared WHO-recommended therapeutic feeds in India remain limited. Objective: To describe serum phosphate dynamics and the incidence and correlates of hypophosphatemia in children aged 6-59 months hospitalized with complicated SAM. Methods: A prospective observational study was conducted from January to December 2024 at a tertiary paediatric department in north India. Results: Sixty children (6-59 months) with SAM (WHZ/L <-3 SD, MUAC <11.5 cm, and/or bilateral oedema) and medical complications were enrolled. Serum inorganic phosphate, sodium, potassium, and calcium were measured at admission, day 4 (end of stabilization phase), and at discharge (only if hypophosphatemia persisted on day 4).  Median (IQR) serum phosphate was 3.81 (0.20) mg/dL. By day 4, the prevalence decreased significantly to 8/60 (13.3%; p=0.001), and... Continue Reading

Background: Idiopathic granulomatous mastitis is a benign, chronic inflammatory disease of the breast that predominantly affects women of reproductive age. It is characterized by non-caseating granulomas involving the mammary lobules. Clinical manifestations range from breast pain and induration, to cutaneous fistulas and breast deformity. In recurrent or extensive disease, management may require radical surgical approaches followed by reconstruction. We report the case of a patient who experienced a relapse after salvage surgery in the remote donor area (abdomen), raises questions about whether the initial diagnosis of idiopathic granulomatous mastitis was incorrect, and whether what the patient presented from the beginning corresponded to a skin or connective tissue manifestation secondary to her autoimmune disease. Case Presentation: A 28-year-old female presented with a two-year history of multiple emergency department visits for recurrent mastitis, treated with various antibiotic regimens, with late diagnosis of systemic lupus erythematosus and idiopathic granulomatous mastitis who underwent bilateral... Continue Reading

Background: Acute motor axonal neuropathy (AMAN) is a severe Guillain-Barré syndrome (GBS) variant that may deteriorate rapidly, particularly when early bulbar weakness and respiratory failure occur. Cerebrospinal fluid (CSF) protein may remain normal early in the disease course, and coexisting upper-airway findings can create diagnostic uncertainty. Case Presentation: A 43-year-old previously healthy man developed severe dysphagia, sialorrhea, and nasal speech after febrile pharyngitis, followed by rapidly progressive limb weakness. Examination showed flaccid tetraparesis, preserved sensation, and evolving bulbar dysfunction. Nasopharyngoscopy demonstrated mild non-obstructive epiglottic inflammation, initially suggesting an upper-airway or infectious cause. Within 24 hours, he developed ineffective cough, neck flexor weakness, and impending respiratory failure requiring intensive care admission and endotracheal intubation. Post-intubation examination showed generalized areflexia and autonomic instability. Day 1 CSF showed no pleocytosis and normal protein. Day 2 nerve conduction studies demonstrated severe predominantly motor axonal polyneuropathy with relatively preserved sensory responses, consistent with AMAN. Intravenous... Continue Reading

Background: Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare, highly aggressive primary intestinal T-cell lymphoma predominantly observed in male populations in Asia and Latin America. The disease most commonly involves the proximal small intestine, particularly the jejunum, and is characterized by non-specific clinical manifestations.  Case Presentation: We report the case of a 37-year-old male who presented with periumbilical abdominal pain of indeterminate etiology, which subsequently migrated to the left upper quadrant. Computed tomography (CT) of the abdomen revealed focal wall thickening in the small intestine within the right lower quadrant and left middle-upper abdomen, alongside marked irregular thickening and rigidity in the left upper abdomen, findings suggestive of a neoplastic lesion. Intraoperatively, a firm mass measuring approximately 8 cm × 10 cm was identified in the small intestine. Histopathological examination confirmed the diagnosis of MEITL; notably, the tumor cells exhibited expression of the B-cell immunohistochemical marker CD20. Conclusion: MEITL is characterized by... Continue Reading

Background: Helicobacter pylori infection is commonly treated with antibiotic-based regimens; however, antimicrobial resistance, treatment failure, and intolerance may limit therapeutic options. Antibiotic-sparing approaches remain investigational but may be considered in carefully selected patients who decline or cannot tolerate conventional therapy. Case Presentation: We report a 38-year-old woman with recurrent, biopsy-confirmed H. pylori gastritis after failure of two previous antibiotic-based eradication regimens. Because of a family history of gastric cancer, bismuth-containing quadruple therapy was recommended, but the patient declined further antibiotic and bismuth-based treatment owing to concerns about adverse effects. After counseling and written informed consent, she received an off-label, antibiotic-free 14-day regimen consisting of pantoprazole 40 mg, Lacticaseibacillus rhamnosus LCR35, and liquid berberine, administered twice daily in sequence. Symptoms improved during treatment, and no serious adverse effects occurred. Follow-up stool antigen testing approximately nine weeks after therapy was negative. Subsequent gastroscopy approximately twelve weeks after treatment showed discrete gastritis with... Continue Reading

The larynx is a compact structure with complex anatomy essential for airway protection and phonation. Although common laryngeal pathologies are well recognized and readily diagnosed, such as epiglottitis in children, post-intubation subglottic stenosis, and squamous cell carcinoma (SCC) in adults, several rare conditions with overlapping clinical features may mimic neoplasms, resulting in delayed diagnosis and management. These include uncommon infections, non-squamous carcinomas, vascular malformations, and vascular tumors, among others. Many of these lesions demonstrate characteristic imaging findings. Imaging, therefore, plays a pivotal role in differentiating these entities and guiding treatment. Awareness of these uncommon laryngeal lesions and their imaging characteristics is crucial for accurate diagnosis, appropriate treatment planning, and prevention of unnecessary delays in management. Continue Reading