Engelmann syndrome

Engelmann syndrome is a rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. Patients typically have heavily-thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness.

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This disease often appears in childhood and is considered to be inherited. The disease is slowly progressive and, while there is no cure, there is treatment.

The most common mutation causing Engelmann syndrome is in the gene encoding for the TGF-β2 receptor.

Naming

Engelmann Syndrome is also known as Camurati-Engelmann disease or progressive diaphyseal dysplasia (PDD), which are the most common alternative names of the disease. Other names include osteopathia hyperostotica scleroticans and multiplex infantalis. In the past this disease was also known as ribbing disease, a name which is no longer used.

Symptoms

Human bones are very strong and durable but they are living organisms. Bones are constantly being broken down and rebuilt without losing their correct shape and size. When someone has a disease that interferes with this process, which is called bone remodeling, one experiences pain which restricts movement.

Clinically, patients complain of bone pain in the legs, muscle weakness and waddling gait. Some other clinical problems associated with the disease are increased fatigue, headache and delay in puberty. Some patient have an abnormal or absent tibia, flat foot or scoliosis.

This disease may also cause bones to become abnormally hardened which is referred to as sclerosis. This hardening may affect the bones at the base of the skull or those in the hands, feet, or jaw. This causes pain and aching within the body part that is affected.

Engelmann's may also affect internal organs, the liver and spleen, which may become enlarged. A loss of vision can occur if bones near or around the eye socket are affected by the hardening effect.

Treatment

Engelmann Syndrome is somewhat treatable. Glucocorticosteroids, which are anti-inflammatory and immunosuppressive agents, are used in some cases. This form of medication helps in bone strength. In several reports, successful treatment with glucocoricosteroids was described, as its side effects can benefit a person with CED. This drug helps with pain and fatigue as well as some correction of radiographic abnormalities.