Malignant osteopetrosis is a rare autosomal recessive bone disease usually present with short stature, severe anemia, thrombocytopenia, hepatosplenomegaly, and macrocephaly. Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276020 | PMC |
| http://dx.doi.org/10.4103/0976-9668.92315 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Chitosan/γ-PGA nanoparticles and IFN-γ immunotherapy: A dual approach for triple-negative breast cancer treatment.
J Control Release
January 2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; INEB - Instituto de Engenharia Biomédica, Universidade do Porto, Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
Interferon-γ (IFN-γ) is a key mediator in antitumor immunity and immunotherapy responses, yet its clinical application remains restricted to chronic granulomatous disease and malignant osteopetrosis. IFN-γ effectiveness as a standalone treatment has shown limited success in clinical trials and its potential for synergistic effects when combined with immunotherapies is under clinical exploration. A particularly compelling combination is that of IFN-γ with Toll-like receptor (TLR) agonists that holds significant promise for cancer treatment.
View Article and Find Full Text PDFThe role of whole-body bone scan in a rare case of colon cancer with lesions potentially mistaken for bone metastases but diagnosed as bony lesions of osteopetrosis.
Nucl Med Rev Cent East Eur
December 2024
Department of Nuclear Medicine, School of Medicine, Hasheminejad Hospital, Iran University of Medical Sciences, Tehran, Iran.
Background: Bone metastases are complications of many cancers, including colon cancer. Whole body bone scan is commonly used to detect bone metastases in these patients. Bone scan findings are sensitive for detecting metastases but with less experience and especially without the use of single photon emission computed tomography/computed tomography (SPECT/CT) images, they are less specific.
View Article and Find Full Text PDFTargeted Surgical Management of Obstructive Sleep Apnea in a Child with Malignant Osteopetrosis: A Case for Averting Tracheostomy.
Ear Nose Throat J
December 2024
Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada.
Malignant osteopetrosis of infancy: A case report.
Int J Surg Case Rep
October 2024
Department of Nursing and Midwifery, Neyshabur University of Medical Sciences, Neyshabur, Iran. Electronic address:
Introduction: Osteopetrosis is a genetic bone disease whose main feature is the function of osteoclasts. This rare disorder affects one in every 250,000 live births. In terms of pathophysiology, osteopetrosis is divided into four types from mild to severe forms of the disease.
View Article and Find Full Text PDFArticle Synopsis
- * JAK1/2 inhibitor Ruxolitinib was specifically noted to shrink spleen size, while the drugs Aplidin and SB431542/AVID200 improved platelet counts and various inhibitors reduced tissue fibrosis.
- * The research suggests that combining Ruxolitinib with treatments targeting hematopoietic stem cells or inflammation could enhance therapeutic outcomes for myelofibrosis.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!