Ostéopétrose ou maladie des os de marbre – 2. Pathogénie et traitement

Germanier, Yves; Carrel, Jean-Pierre; Najm, Semaan Abi; Samson, Jacky

doi:10.1051/mbcb/2006016

Cited by 3 publications

(3 citation statements)

References 1 publication

(1 reference statement)

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“…Osteopetrosis ('marble bone disease') encompasses a group of rare inherited autosomal metabolic bone diseases. One of the consequences of this fatal disease is pancytopenia [30]. There is currently no curative medical treatment for osteopetrosis [30].…”

Section: Discussionmentioning

confidence: 99%

“…One of the consequences of this fatal disease is pancytopenia [30]. There is currently no curative medical treatment for osteopetrosis [30]. Management of this disease is essentially supportive and aims to ensure multidisciplinary monitoring and symptomatic management of complications, and a supportive management of associated infections [31].…”

Section: Discussionmentioning

confidence: 99%

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A very rare case of bacteraemia in a 4-year-old girl with osteopetrosis with probable Leuconostoc lactis infection

Azghar,

Azizi,

Lahmer

et al. 2023

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Leuconostoc lactis (LLac) is a Gram-positive coccus of the family Leuconostocaceae . It can be found in a variety of vegetables and dairy products. LLac is an opportunistic pathogen with intrinsic resistance to vancomycin and teicoplanin. In this case report, we discuss a rare case of LLac-associated bacteraemia in a patient with osteopetrosis. A 4-year-old girl was admitted to the paediatric emergency department with acute fever without other signs. Blood culture revealed an infection with LLac. Using the streptococcus antibiogram, the isolate was resistant to vancomycin, teicoplanin, rifampicin and sulfamethoxazole-trimethoprim but sensitive to β-lactams, gentamicin, streptomycin, azithromycin, clarithromycin, lincomycin, clindamycin and erythromycin. The patient was treated with intravenous ceftriaxone and gentamicin, and subsequently with oral amoxicillin. After a favourable course, she was discharged from the hospital on the 10th day. The modes of transmission and physiopathology of LLac remain unknown. Factors associated with this infection include compromised immunity, previous antibiotic therapy especially with vancomycin, and application of a central venous catheter. In our patient, the risk factors for infection were pancytopenia and multiple transfusions used to treat bone marrow failure. The source of the bacteraemia could have been the cutaneous route, but it could also have been digestive due to the reservoir of the bacteria. LLac is known as an opportunistic bacterium. Further studies on its pathogenesis and other risk factors are needed to understand the true prevalence of this potentially fatal bacterium in compromised individuals, such as the case of our patient.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A very rare case of bacteraemia in a 4-year-old girl with osteopetrosis with probable Leuconostoc lactis infection

Azghar,

Azizi,

Lahmer

et al. 2023

Access Microbiology

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“…A bone biopsy, performed mainly from the iliac bone, can confirm the diagnosis showing an increased number of osteoclasts, or a change in the brush border. However, it does not usually seem necessary for the diagnosis [5,21,22].…”

Section: Discussionmentioning

confidence: 99%

Malignant Osteopetrosis, a Rare Cause of Bicytopenia in Infants: A Case Report

Ouassou

Radi

Hassani

et al. 2021

JAMMR

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Osteopetrosis is an autosomal metabolic bone disease caused by a functional abnormality of the osteoclasts. Two main forms exist, the dominant benign form and the recessive malignant form. We describe in our patient the recessive malignant form retained according to all the clinical, biological and especially radiological criteria. We also report in this work the elements of description of the disease in the literature in comparison with the data of our patient, which allows us to emphasize the severity of the ocular and bone damage requiring an early marrow transplant which alone seems to cure the disease.

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