Bourneville's Disease

Definition

Definition of Bourneville's Disease
Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.

Symptoms

Symptoms of Bourneville's Disease
The disease is very serious and may affect various parts of the body such as Central nervous system, Kidneys, Lungs, Heart, Skin and Eyes. Some of the major symptoms of the disease may include:

1. Facial angiofibromas or forehead plaque
2. No traumatic ungual or periungual fibroma
3. Hypomelanotic macules
4. Shagreen patch (Skin)
5. Cortical tuber, Subependymal nodule, Subependymal giant cell astrocytoma (Brain)
6. Multiple retinal nodular hamartomas, Eyes, specially caused in infants
7. In infants, presence of seizures, delayed development or white patches on the skin are very common and others

Causes

Causes of Bourneville's Disease
Check causes of tuberous sclerosis page.

Diagnosis

Diagnosis of Bourneville's Disease
The complete diagnosis of the disease may include:

1. Taking a personal and family history.
2. Examining the skin under a Wood's lamp (Hypomelanotic macules), the fingers and toes (ungual fibroma), the face (angiofibromas) and the mouth (dental pits and gingival fibromas).
3. Cranial imaging with non enhanced CT or, preferably, MRI (cortical tubers and subependymal nodules).
4. Renal ultrasound (angiomyolipoma or cysts).
5. An echocardiogram in infants (rhabdomyoma).
6. Fundoscopy (retinal nodular hamartomas or achromic patch).

Treatment

Treatment of Bourneville's Disease
Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. Therefore, it is better to treat the disease as soon as possible. In case of suspicion, one need to consult doctor and start the treatment immediately.

Prognosis

Prognosis of Bourneville's Disease
Check prognosis of tuberous sclerosis page.

Prevention

Prevention of Bourneville's Disease
Check prognosis of tuberous sclerosis page.