Patient's question:
How to treat tuberous sclerosis with Chinese medicineDoctor's answer:
Hello, Boureville-Prigle disease, also known as tuberous sclerosis, primarily manifests as sebaceous adenomas on the face, epilepsy, intellectual disability, and lesions in the retina and other parts of the eye. It can also involve cranial bone calcification or the presence of tumors in the heart, kidneys, bones, and other areas. It is an autosomal dominant genetic disorder. Glial proliferation nodules widely occur in the cerebral cortex, white matter, basal ganglia, and subependymal regions, often accompanied by calcium deposition, and may present with heterotopia and angiogenesis. The pathological changes in the brain include numerous hard nodules in the cerebral cortex, heterotopic cell clusters in the white matter, and small nodules in the ependymal lining of the ventricles. The number of cortical nodules varies from 1 to 40, with the frontal lobe being the most affected, but they can also occur in the thalamus, basal ganglia, cerebellum, brainstem, and spinal cord. The size of the nodules is inconsistent, with some having diameters exceeding 3 cm, presenting as macrocephaly. Histological examination reveals that the nodules are composed of very dense fine collagen fibers, containing abnormally shaped glial cells and normal or atypical neurons. Calcium deposits or cystic changes may occur within the nodules. The normal cortical structure is often disrupted. Small nodules in the subependymal region of the ventricles may protrude into the ventricles, appearing as shiny white, hard formations known as the "candle drippings" sign. They may sometimes obstruct the cerebrospinal fluid circulation, leading to hydrocephalus. The heterotopic cell clusters in the white matter are composed of glial cells and deformed ganglion cells, with fewer nerve fibers, primarily distributed between the ventricular wall and the cerebral cortex. Brain lesions generally do not have the potential to become malignant. The sebaceous adenomas on the skin are composed of overgrown sebaceous glands, connective tissue, and dilated capillaries. This condition is often associated with retinal gliomas, tumors or malformations in the heart and kidneys. Tumors have also been found in organs such as the thyroid, thymus, breast, gastrointestinal tract, liver, spleen, pancreas, adrenal glands, ovaries, bladder, and uterus. Currently, there is no specific treatment for this condition. Symptomatic treatment includes controlling epilepsy recurrence, using ACTH for infantile spasms, and applying diuretics to reduce intracranial pressure. If cerebrospinal fluid circulation is obstructed, surgical intervention may be necessary. Facial sebaceous adenomas can be treated with cosmetic surgery.