Malignant infantile osteopetrosis

Abstract

Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.

Osteopetrosis Maligna Infantil: A Propósito De Un Caso Y Revisión De La Literatura

“…El diagnóstico de la OP se realiza principalmente por los hallazgos clínico-laboratoriales siendo los hallazgos radiológicos los que nos dan el diagnóstico 8, pues no existe una prueba específica para el mismo 12 . La variedad OPAR se presenta clásicamente durante los primeros meses de vida 14 , como es el caso de nuestro paciente. Además existe una predisposición a padecer complicaciones como tupidez nasal relacionada a malformación de los senos paranasales, neuropatías por compresión nerviosa y pancitopenia8, evidenciadas en la historia clínica de la paciente.…”

Zinc(II) and Cadmium(II) complexes with N4-coordinate pyrazole based ligand: Syntheses, characterization and structure

“…Therefore, we can conclude that pyrazole containing tetradentate N4-coordinated ligand form mononuclear complexes with either trigonal bipyramidal (complexes) or distorted octahedral geometry and binuclear distorted octahedral geometry with Zn(II) and Cd(II) ions in the presence of pseudohalides like azide, thiocyanate or isocyanate, although zinc(II) and cadmium (II) prefer to form tetrahedral complexes [40]. Another important point is that most of the reported azide bridged binuclear cadmium(II) complexes have endon (l-1,1) coordination mode of bonding [37,41,42] but the compound [{Cd(dbdmp)} 2 (l-N 3 ) 2 ](ClO 4 ) 2 (7) synthesized by us have rare end-to-end (l-1,3) coordination mode of bonding.…”

“…Similar, tetradentate N 4 -coordinated pyridyl-pyrazole based ligand form five coordinated mononuclear complexes with trigonal bipyramidal geometry and six coordinated binuclear complexes with distorted octahedral geometry with same metal ions and same pseudohalides [37][38][39]. Therefore, we can conclude that pyrazole containing tetradentate N4-coordinated ligand form mononuclear complexes with either trigonal bipyramidal (complexes) or distorted octahedral geometry and binuclear distorted octahedral geometry with Zn(II) and Cd(II) ions in the presence of pseudohalides like azide, thiocyanate or isocyanate, although zinc(II) and cadmium (II) prefer to form tetrahedral complexes [40].…”

Congenital Osteopetrosis and Nursing Care: Case Report

“…Konjenital Osteopetrozis ve Hemşirelik Bakımı: Olgu Sunumu O steopetrozis; radyografide artmış kemik yoğunluğunun özelliklerini gösteren, (1) kemik rezorpsiyonun bozulması ile karakterize, (2) ender olarak görülen konjenital kalıtımsal bir hastalıktır. (3,4) Konjenital ve tarda olarak iki tipi bulunmaktadır. Tarda tipi otozomal dominant osteopetrozis (Autosomal Dominant Osteopetrozis (ADO)) genellikle yetişkin başlangıçlı, iyi huylu bir hastalık olarak kabul edilir ve daha sık görülür.…”