Dr. Carlos Rebollón
INFANTILE MALIGNANT OSTEOPETROSIS IN PANAMA
Infantile malignant osteopetrosis is caused by abnormalities in inherited genes (TCIRG1, CLCN7, OSTM1...).
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Infantile Malignant Osteopetrosis
Infantile Malignant Osteopetrosis
This disease causes abnormal and deteriorated growth of bone structures, making the bones excessively dense and prone to fractures.
The disease starts to manifest at an early age, even during gestation. In infants, it has a high mortality rate when left untreated. Although unfortunately there is still no cure for infantile malignant osteopetrosis, certain treatments can be applied to alleviate the symptoms associated with the disorder.
If you want to learn more about this rare disease, we invite you to keep reading this publication…
WHAT IS INFANTILE MALIGNANT OSTEOPETROSIS?
Infantile malignant osteopetrosis, also known as autosomal recessive malignant osteopetrosis, is a rare genetic disease that affects bone development by progressively increasing bone density. This bone dysplasia is hereditarily transmitted through an autosomal recessive pattern, with an approximate incidence of 1 in every 200,000 newborns.
Generally, the increased bone density caused by the disease leads to the collapse and dysfunction of the bone marrow, which is primarily responsible for the formation of blood cells.
For some, the etiology of infantile malignant osteopetrosis is still a topic of debate; however, everything points to it being primarily associated with an alteration in the growth and functioning of osteoclasts.
DIAGNOSIS PROCESS OF INFANTILE MALIGNANT OSTEOPETROSIS
The methods used for diagnosing the disease typically involve a medical history and a radiological test. It is highly unlikely that a bone biopsy will be necessary to confirm the result.
As it is an autosomal recessive disease, parents who have a high risk of transmitting the genetic alteration for osteopetrosis have two ways to make a prenatal diagnosis:
The first is by taking a sample of chorionic villus between weeks 11 and 13 of pregnancy, and the second is through an ultrasound at the end of the second trimester of gestation.
SYMPTOMS OF INFANTILE OSTEOPETROSIS
The characteristic signs of the disease are:
Increased bone density
Bone deformities
Sclerosis.
Pathological fractures.
Dental problems.
Osteomyelitis.
Hypocalcemia.
Anemia.
Infections due to monocyte and neutrophil dysfunction
Blindness.
Deafness.
Facial paralysis.
CAUSES OF INFANTILE OSTEOPETROSIS
The occurrence of infantile malignant osteopetrosis is directly related to genetic abnormalities transmitted by parents in relation to the TCIRG1, CLCN7, OSTM1 genes.
TREATMENTS FOR INFANTILE MALIGNANT OSTEOPETROSIS
Patients diagnosed with infantile malignant osteopetrosis at any stage of the disease may require conventional treatments to address vision problems, developmental issues, and infections. Blood transfusions may also be necessary to control anemia and regulate other values.
Bone marrow transplants have shown very good results in relieving the symptoms of this disease. The earlier the transplant is performed, the more effective the results can be, especially when the optic nerve damage has not occurred and the patient’s vision can still be saved.
FREQUENTLY ASKED QUESTIONS ABOUT INFANTILE MALIGNANT OSTEOPETROSIS
Osteopetrosis in children is often the most alarming due to the number of complications it brings during the early years of life. It is a chronic disease that can cause the death of the child before the age of 10. However, osteopetrosis can also occur in adults.
In most cases, the diagnosis in adults happens incidentally after seeking medical attention for a fracture. Osteopetrosis in adults is a nearly asymptomatic disease, making individuals unable to perceive their condition beforehand.
When dealing with a genetically transmitted disease, there are only two ways to prevent it before conception. The first is to identify hereditary family burdens to determine the risk of the baby developing the disease. The second is to explore assisted reproduction alternatives that help reduce the direct risk.
