<unk>  complex affects multiple organ systems so a multidisciplinary team of medical professionals is required. In suspected or newly diagnosed<unk> , the following tests and procedures are recommended by 2012 International<unk>  Complex Consensus Conference. * Take a personal and family history covering three generations. Genetic counselling and tests determine if other individuals are at risk. * A magnetic resonance imaging (MRI) of the brain to identify tubers, subependymal nodules (SEN) and sub-ependymal giant cell astrocytomas (SEGA). * Children undergo a baseline electroencephalograph (EEG) and family educated to identify seizures if/when they occur. * Assess children for behavioural issues, autism spectrum disorder, psychiatric disorders, developmental delay, and neuropsychological problems. * Scan the abdomen for tumours in various organs, but most importantly angiomyolipomata in the kidneys. MRI is superior to CT or ultrasound. Take blood pressure and test renal function. * In adult women, test pulmonary function and perform a high-resolution computed tomography (HRCT) of the chest. * Examine 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). * In infants under three, perform an echocardiogram to spot rhabdomyomas, and electrocardiogram (ECG) for any arrhythmia. * Use a fundoscope to spot retinal hamartomas or achromic patches. The various symptoms and complications from<unk>  may appear throughout life, requiring continued surveillance and adjustment to treatments. The following ongoing tests and procedures are recommended by 2012 International<unk>  Complex Consensus Conference. * In children and adults younger than 25 years, a magnetic resonance imaging (MRI) of the brain is performed every one to three years to monitor for subependymal giant cell astrocytoma (SEGA). If a SEGA is large, growing or interfering with ventricles, the MRI is performed more frequently. After 25 years, if there are no SEGAs then periodic scans may no longer be required. A SEGA causing acute symptoms are removed with surgery, otherwise either surgery or drug treatment with an mTOR inhibitor may be indicated. * Repeat screening for<unk> -associated neuropsychiatric disorders (TAND) at least annually. Sudden behavioural changes may indicate a new physical problem (for example with the kidneys, epilepsy or a SEGA). * Routine EEG determined by clinical need. * Infantile spasms are best treated with vigabatrin and adrenocorticotropic hormone used as a second-line therapy. Other seizure types have no<unk> -specific recommendation, though epilepsy in<unk>  is typically difficult to treat (medically refractory). * Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function annually. Should angiomyolipoma bleed, this is best treated with embolisation and then corticosteroids. Removal of the kidney (nephrectomy) is strongly to be avoided. An asymptomatic angiomyolipoma that is growing larger than 3 cm is best treated with an mTOR inhibitor drug. Other renal complications spotted by imaging include polycystic kidney disease and renal cell carcinoma. * Repeat chest HRCT in adult women every five to 10 years. Evidence of lymphangioleiomyomatosis (LAM) indicates more frequent testing. An mTOR inhibitor drug can help, though a lung transplant may be required. * A 12-lead ECG should be performed every three to five years. The mTOR inhibitor everolimus was approved in the US for treatment of<unk> -related tumors in the brain (subependymal giant cell astrocytoma) in 2010 and in the kidneys (renal angiomyolipoma) in 2012. Oral everolimus (rapalog) reduces tumour size, is effective in terms of response to skin lesions and does not increase the risk of adverse events. Everolimus also showed evidence of effectiveness at treating epilepsy in some people with<unk> . In 2017, the European Commission approved everolimus for treatment of refractory partial-onset seizures associated with<unk> . Neurosurgical intervention may reduce the severity and frequency of seizures in<unk>  patients. Embolization and other surgical interventions can be used to treat renal angiomyolipoma with acute hemorrhage. Surgical treatments for symptoms of lymphangioleiomyomatosis (LAM) in adult<unk>  patients include pleurodesis to prevent pneumothorax and lung transplantation in the case of irreversible lung failure. Other treatments that have been used to treat<unk>  manifestations and symptoms include a ketogenic diet for intractable epilepsy and pulmonary rehabilitation for LAM. Facial angiofibromas can be reduced with laser treatment and the effectiveness of mTOR inhibitor topical treatment is being investigated. Laser therapy is painful, requires anaesthesia, and has risks of scarring and dyspigmentation.
Tuberous sclerosis
Sugarman syndrome
Krabbe disease
Neurofibromatosis
Neurofibromatosis type 4
Neurofibromatosis type I
Neurofibromatosis type II
Leschke syndrome