Osteogenesis Imperfecta: 1 Rare Wishbone Diseases.

Osteogenesis Imperfecta (OI) or Brittle Bone Disease is a group of genetic disorders that mainly causes bone fragility. The symptoms are surprised to hear which are unusual in nature, rare, unique, and extraordinary. The term OI came into use in 1895 and means imperfect bone formation.

The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases as a result of mutations. There are at least 8 types, with type I being the least severe and type II most severe. OI affects about one in 15000- 25000 live births. Often the diagnosis is based on symptoms and may be confirmed by collagen or DNA testing.

8 Types of Osteogenesis Imperfecta with symptoms

Type I: Collagen is of normal quality but is produced in inadequate quantities.

• Bones are easily fractured,
• The weakening of teeth,
• Discoloration of the sclera, giving them blue-gray color,
• Loss of hearing

Type II: Collagen is of insufficient quality or quantity. It is the most complex type of OI.

• Most cases result in death within the first year of life due to respiratory failure or intracerebral hemorrhage,
• Height decreases,
• More number of fractures

Type III: Malfunctioning of collagen produced.

• Problems in the respiratory system,
• Triangular Face,
• Poor muscle tone in arms and legs

Type IV: Even though the collagen quantity is high it’s not enough in quality.

• The symptoms of this type of patient are similar to type 1 and 3,
• Rounded rib shape, crooked bones

Type V: The situation and symptoms of this type of patient are similar to type-4, but the teeth are normal.

Type VI: With the same clinical features as Type IV, it is distinguished histologically by “fish-scale” bone appearance. From 4 to 18 months, bone fractures begin.

Type VII: Similar to Type IV, symptoms append small head and round face, short stature, and short arm and thigh bones.

Type VIII: It is mainly due to mutation in the gene.  Whitening of the sclera, decrease in height, lack of calcium in bones are the major symptoms.

Treatment of Osteogenesis Imperfecta(OI)

There is no cure for this brittle bone disease. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs, and surgery. A type of surgery that puts metal rods through long bones may be done to strengthen them. Bisphosphonates are drugs that have been used to treat osteoporosis. This has been proven to be very valuable in the treatment of OI symptoms, especially in children. These drugs can increase the strength and density of the bone in OI patients.

Case in Nepal of Osteogenesis Imperfecta in a Boy.

A boy named Animesh Lamichhane was born on 2009/05/17, in Pokhara, Nepal. At the age of 11 months, he got his first bone fractured. It was unknown how has it happened for several months till the first doctor of Nepal identified that he was suffered from Osteogenesis Imperfecta(OI) or Brittle Bone Disease.

After much research on the internet  Animesh’s Father found a hospital in Canada to treat Animesh for free(i.e. Montreal Shriners Hospital in Montreal, Canada). He arrived in Canada in January 2012. 3 months after surgery he was able to stand up independently. They returned back to Nepal and followed PAM infusion therapies every four months. There are 40+ fractures till today.

Now in 2020, He is fine with a hand fracture.

Special thanks to Mr. Khim Bahadur Lamichhane

For further information on Osteogenesis Imperfecta or brittle bone disease feel free to contact:

Name: Khim Bahadur Lamichhane

Phone Number: +977-9856020654