Leprosy remains a significant public health concern in Ethiopia, with challenges in timely diagnosis and management contributing to disabilities. This case report details a 15-year-old boy who presented with diffuse nodular and bullous skin lesions, peripheral neuropathy, and systemic symptoms, ultimately diagnosed with multibacillary leprosy confirmed by a positive skin smear for acid-fast bacilli. A 15-year-old immunocompetent boy presented to the emergency department with a 2-week history of diffuse, non-pruritic skin lesions, joint swelling, numbness, and tingling sensation. The patient was febrile on arrival. Physical examination revealed an erythematous nodular skin lesion over the face and hand bilaterally and a non-blanching bullous lesion over the right leg. The left hand was swollen and tender to touch, with a superficial collection, suggestive of an abscess. There was also a hypopigmented skin lesion over the medial aspect of the left leg and thigh bilaterally with loss of sensation. There were bilateral ulnar and radial nerve enlargement, saddle nose, and tenderness at the olecranon area. The skin smear was positive for acid-fast bacilli. The patient was initially treated with corticosteroids and antibiotics, followed by referral for multidrug therapy, and was advised for further follow-up for treatment response. The case describes the critical role of early recognition and multidisciplinary management in leprosy, particularly in endemic areas. The complexity of the presentation demonstrates the need for ongoing vigilance among healthcare providers. Public health initiatives aimed at improving diagnostic capabilities and expanding leprosy services are vital for reducing the disease burden in countries such as Ethiopia.
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http://dx.doi.org/10.3389/fmed.2024.1490279 | DOI Listing |
Cureus
March 2025
Department of Ophthalmology, Kindai University Hospital, Osakasayama, JPN.
We report two cases of Rubinstein-Taybi syndrome (RTS) with retinal detachment. Case 1 is a nine-year-old girl with RTS. She developed a macula-involving tractional retinal detachment (TRD) in the superior temporal quadrant of her right eye.
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January 2025
Pathology and Laboratory Medicine, Aga Khan University Medical College, Karachi, PAK.
Gallbladder carcinoma (GBC) is a relatively rare disease of old age with adenocarcinoma being the most prevalent subtype. It is extremely rare in childhood and adolescence, and only a few cases have been reported to date. A 15-year-old boy presented in the outpatient department referred from the periphery with dull progressive right upper quadrant abdominal pain, associated with jaundice, abdominal distension, anorexia and significant weight loss for the past three months.
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February 2025
Sorbonne University, Inserm UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Paris, France; Assistance Publique Hôpitaux de Paris, Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Paris, France.
Background: LAMP3 encodes a lysosomal membrane protein associated with lamellar bodies and has recently been proposed as a candidate gene for childhood interstitial lung diseases (chILD). Here, we identified two LAMP3 variants in a proband with chILD and performed functional validation of these variants as well as the previously reported variants to demonstrate the role of LAMP3 in pathology.
Methods: LAMP3 variants were identified by exome sequencing.
Medicine (Baltimore)
February 2025
Biostatistician, ELSAN, Paris, France.
Rationale: Horseshoe appendix is 1 of the rarest types of duplex appendix characterized by 1 appendix having 2 openings at the cecum. Clinically, it is extremely rare and is detected incidentally at surgery. Therefore, accurate and timely diagnosis is important for enhanced prognosis, treatment planning, and optimizing patient outcomes.
View Article and Find Full Text PDFMedicine (Baltimore)
February 2025
Department of Pharmacy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Rationale: Deficiency in antithrombin (AT) can significantly increase the risk of venous thromboembolism (VTE). However, there is insufficient data on the efficacy and safety of anticoagulants in patients with AT deficiency, especially in children. In addition, Asian populations typically require a lower dose of rivaroxaban, and this may be even more pronounced in Asian children.
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