They are usually asymptomatic but they may become thickened overtime and may be associated with an increased risk for glaucoma.Seizures typically develop within the first two years of life and occur in 75-100% of patients. Onset of seizures occur in 95% by the age of 5 years. Status epilepticus occurs in approximately 50% of patients. Approximately 25% of patients develop drug-resistant epilepsy. In these cases, surgery may be pursued with the two main approaches being lesionectomy and hemispherectomy.Neurological impairment can accrue gradually over time and may occur in the context of stroke-like episodes which may be triggered by seizures or head injuries. Intellectual disability occurs in approximately one-half of patients. In addition, patients with Sturge-Weber syndrome have an increased prevalence of depression, endocrinological abnormalities, headaches with migraine-like features, ADHD and behavioral problems. Cortically mediated visual field defects and hemiparesis occur in approximately one-third and one-half of patients, respectively. Von Hippel–Lindau syndrome (hemangiomatosis)
Von Hippel-Lindau (VHL) disease is an autosomal dominant condition caused by mutations of the VHL gene. Approximately one-in-five cases are de novo rather than familial and it has nearly complete penetrance. VHL occurs in an estimated 1 in 36,000-45,000 live births. VHL normally functions as a tumor suppressor gene and thus when not functioning normally results in the development of benign and malignant tumors as well as cysts. Some of the most common manifestations include hemangioblastomas in the retina and central nervous system, clear cell renal cell carcinomas, pheochromocytomas, endolymphatic sac tumors and pancreatic neuroendocrine tumors.
Metageria is a cutaneous condition characterized by premature aging. See also
Hutchinson–Gilford syndrome
List of cutaneous conditions

References


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