Also known as Bourneville disease, it is clinically characterized by facial sebaceous adenomas, epileptic seizures, and intellectual decline. Additionally, various abnormalities may occur in the brain, heart, eyes, lungs, kidneys, skin, and other organs. It is an autosomal dominant genetic disorder.

bubble_chart Diagnosis

1. Clinical Manifestations:

(1) Skin lesions, the most common and diagnostically significant. 80-100% of patients have sebaceous adenomas. These typically appear between the ages of 4-5 and become more prominent during adolescence. They present as pink or light brownish papules that blanch upon pressure, are firm in texture, and are distributed in a butterfly pattern on both sides of the nasal wings. Occasionally, scattered small nodules may be seen on the face. 20% of patients may exhibit shagreen patches on the trunk, and subungual fibromas may sometimes be observed on the fingers or toes.

(2) Epilepsy: Most cases manifest within 2-3 years of age and may appear before skin lesions and intracranial calcifications. Almost all patients with intellectual disabilities experience various forms of epileptic seizures, and some patients may present with epileptic seizures alone.

(3) Mental disorders: 60-70% of patients exhibit varying degrees of intellectual impairment. The earlier the onset of epilepsy, the more severe the intellectual disability. A few patients may display behavioral or personality abnormalities.

(4) Other manifestations: Approximately 30-60% of patients may have ocular lesions, with retinal astrocytomas being the most characteristic. Some may be accompanied by renal tumors or myocardial damage, often leading to early death due to heart failure.

1. Skull X-rays: Intracranial calcifications can be observed in 50-70% of patients. CT scans may reveal increased density around the ventricles and multiple scattered nodular shadows.

2. Electroencephalography (EEG) may show epileptiform waves and high-amplitude dysrhythmia.

bubble_chart Treatment Measures

1. Control epileptic seizures, refer to the epilepsy section.

2. For intellectual disabilities, options include Aniracetam 0.1～0.2 3/d, Piracetam 0.4～0.8 3/d, or Chinese medicinals such as Pushen Yizhi Capsules 2 tablets 3 times/d.

3. Patients with constant single focal epileptiform discharges on EEG may undergo surgical resection of cortical or subcortical nodules.