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Idiopathic infantile hypercalcemia with a variant triggered by vitamin D supplementation in fortified milk: A case report.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with variants.
View Article and Find Full Text PDFConcomitant Interstitial Pneumonia and Disseminated BCG Infection after Intravesical BCG Therapy: A Case Report.
Intern Med
December 2024
Department of Respiratory Medicine, Tsukuba Medical Center Hospital, Japan.
An 83-year-old man presented with persistent fever after intravesical BCG therapy for bladder cancer. Chest computed tomography (CT) and bronchoscopy revealed diffuse ground-glass opacities with multiple micronodules and lymphocyte-predominant bronchoalveolar lavage fluid with a high CD4/CD8 ratio, respectively. Therefore, corticotherapy for interstitial pneumonia was initiated.
View Article and Find Full Text PDFMendelian Susceptibility to Mycobacterial Disease with Signal Peptide Peptidase-like 2A (SPPL2A) Deficiency: A Case Report.
Iran J Allergy Asthma Immunol
October 2024
Department of Allergy and Clinical Immunology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by immunodeficiency, leading to increased susceptibility to mycobacterial infections. Studies have identified several genes that are associated with MSMD in the interferon-gamma/interleukin (IL)-12/IL-23 signaling pathway. One of these genes is signal peptide peptidase-like 2A (SPPL2A), which is very rare, and defects in this gene have been reported only in 3 patients with MSMD.
View Article and Find Full Text PDFEpididymo-Orchitis Mimicking Malignancy Resulting From Intravesical Bacillus Calmette-Guerin Immunotherapy for Bladder Cancer: An Attempt to Understand Pathophysiology, Diagnostic Challenges, Patients' Implications and Future Directions.
J Med Cases
November 2024
Department of Urology, Milton Keynes University Hospital NHS Foundation Trust, Eaglestone, Milton Keynes, Buckinghamshire, UK.
This case report describes an 85-year-old patient who presented with painless, unilateral right testicular swelling of 2 months' duration. This raised the possibility of testicular cancer, especially given his recent treatment for bladder cancer, which included adjuvant intravesical bacillus Calmette-Guerin (BCG) therapy. This poses a diagnostic dilemma regarding tuberculosis (TB) of the testis, BCG complications or a true testicular malignancy.
View Article and Find Full Text PDFMiliary TB in children and adolescents: a scoping review.
Int J Tuberc Lung Dis
September 2024
Oxford Vaccine Group, Department of Paediatrics, University of Oxford, Oxford, UK.
Article Synopsis
- The paper reviews existing literature on miliary tuberculosis (TB) in children and adolescents, focusing on clinical symptoms, diagnosis, treatment, and outcomes.
- A total of 1,883 cases were analyzed, revealing notable statistics including a 30.6% mortality rate, with higher death rates in cases with central nervous system (CNS) involvement and in studies published before 1995.
- There is a lack of consensus on the best diagnostic practices for miliary TB in children, particularly regarding the routine use of lumbar puncture and brain imaging, highlighting the need for more research to fill these gaps.
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