Health A-Z

Ekman-Lobstein disease, also known as osteopetrosis, is a rare genetic disorder characterized by abnormal bone development, leading to increased bone density. Here's an overview of its symptoms, treatment options, diagnosis, and testing.

1. Bone Fractures: Increased bone density can make bones more brittle and prone to fractures.
2. Short Stature: Children with Ekman-Lobstein disease may have short stature due to abnormal bone growth.
3. Bone Pain: Patients may experience bone pain due to increased pressure within bones.
4. Neurological Complications: In severe cases, increased bone density can compress nerves, leading to neurological symptoms like vision and hearing impairment, as well as paralysis.

1. Medical Management: This may include pain management, treatment of fractures, and management of complications like infections or nerve compression.
2. Bone Marrow Transplant: For some patients, particularly children with severe forms of the disease, bone marrow transplantation can offer a cure by replacing defective bone marrow cells with healthy ones.
3. Calcium and Vitamin D Supplements: These may be prescribed to maintain bone health and prevent complications like osteomalacia.

1. Physical Examination: Doctors may observe signs such as short stature, bone deformities, or neurological symptoms.
2. Imaging Studies: X-rays, CT scans, or MRI scans can reveal increased bone density, bone deformities, and fractures.
3. Bone Biopsy: This involves taking a small sample of bone tissue for examination under a microscope to confirm the diagnosis and rule out other conditions.
4. Genetic Testing: Molecular genetic testing can identify mutations in genes associated with Ekman-Lobstein disease, such as TCIRG1, CLCN7, OSTM1, and SNX10.