International Journal For Multidisciplinary Research

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Osteopetrosis- a Case Report

Author(s) Dr. Riona Mathew, Dr. Rinto Jose Pradeeksh, Prof. Dr. Anulekha Mary John
Country India
Abstract Osteopetrosis also known as marble bone disease or Albers-Schonberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis is one of the hereditary causes of osteosclerosis it is considered to be the prototype of osteosclerosing dysplasia [1]. Here is a 75-year- old gentleman who was presented with paraesthesia on the right side, right sided weakness, slurring of speech, right UMN (Upper Motor Neuron) facial palsy and right upper and lower limb ataxia. Hence MRI (Magnetic Resonance Imaging) brain with angiography was done which revealed Left thalamic acute infarct and Right vertebral artery narrowing with visualization of distal part of V4 segment. He was closely monitored and was treated with statins, anti-platelets and neuroprotective agents. During the course his complaints improved and was discharged with same medications. He revisited again after 7 years with complains of Type 2 Diabetes Mellitus and numbness on both feet and back pain. His routine blood investigations showed high calcium levels, low red blood counts levels and low levels of Vitamin D. His Bone Mineral Density test (BMD) was done and values were more than +2, and X-ray results revealed anterior spinal ligament calcification.
Keywords Keywords- MRI (Magnetic Resonance Imaging) 1 , BMD (Bone Mineral Density) 2 , UMN (Upper Motor Neuron) 3
Field Medical / Pharmacy
Published In Volume 7, Issue 4, July-August 2025
Published On 2025-07-07
DOI https://doi.org/10.36948/ijfmr.2025.v07i04.50430
Short DOI https://doi.org/g9s9j5
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