Brushfield-Wyatt disease

Brushfield-Wyatt disease: Description, Causes and Risk Factors:Also known by names nevoid amentia, leptomeningeal angiomas, cephalotrigeminal angiomatosis, encephalotrigeminal angiomatosis, Weber-Dimitri disease, Weber's disease, Sturge-Weber disease, Sturge-Kalischer-Weber syndrome, Kalischer's disease.This is a rare congenital disorder characterized pathologically by sclerotic masses in the cerebral cortex, adenoma sebaceum, and tumours in various-organs, and clinically by mental deficiency and epilepsy.Brushfield-Wyatt diseaseBrushfield-Wyatt disease is rare. It is present at birth in about 1 in every 100,000. Many people with Brushfield-Wyatt disease probably never know they have it. If affects all races and both sexes equally.Although the exact cause of Brushfield-Wyatt diseaseis unknown, in some cases, it is believed to be an autosomal dominant inherited disorder, but there is no known hereditary component. It is a syndrome of unknown etiology, but appears to be due to poor vascularization embryological development, a bug that specifically affects a region of the neural crest, which is responsible for connective tissue origin of the facial dermis, choroid eye and the pia mater.Symptoms:There are a number of health problems associated with Brushfield-Wyatt disease, which may appear in the first year of life. The number and severity of the symptoms varies from person to person.Large pink, red, orpurple birthmark on the face.
  • Angiomas.
  • Headaches.
  • Eye problems such as glaucoma.
  • Nervous system problems.
  • Seizures.
Diagnosis:Your doctor's first attempt to diagnose your symptoms will begin with a routine physical examination. Responses of the reflexes, jaw, eyes, tongue and gag reflex will all be checked to determine the extent of the paralysis symptoms. Motor strength and sensory response to stimuli may also be checked out.Tell your doctor if you have experienced heavy-metal poisoning or have ingested an unhealthy amount of mercury. Both strip the myelin coating away from nerves in your brain.Doctor will make use of medical-imaging technologies to take pictures of your brain and search for abnormalities. The two most common methods used in hospitals today are magnetic resonance imaging (MRI) and computed topography (CT) scanning for diagnosis of Brushfield-Wyatt disease. Brushfield-Wyatt diseaseis difficult to diagnose because a number of neurological conditions can cause similar symptoms. It is always a good idea to seek a second opinion.If neurological involvement is suspected, the following tests may be used to help make a diagnosis:CT scan of the skull to show calcifications, abnormal veins, and brain atrophy.
  • X-ray of the skull to show calcifications.
  • MRI to show angiomas.
  • Single-photon emission computed tomography to measure blood flow in the brain.
  • EEG to evaluate seizures.
Treatment:Most cases of Brushfield-Wyatt diseaseare not life-threatening. The patient's quality of life depends on how well the symptoms can be prevented or treated.Treatment for Brushfield-Wyatt diseaseis symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Surgery may be performed on more serious cases of glaucoma. Photodynamic therapy also is used to treat choroidal hemangiomas that affect the eye. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays. Doctors recommend yearly monitoring for glaucoma.Sometimes brain surgery may be required in order to relieve any underlying conditions that contribute to your Brushfield-Wyatt disease. As the syndrome is frequently precipitated by a brain tumor, lesion or occlusion, surgical intervention may be necessary in order to treat the root cause of your disorder.Disclaimer: The following tests, drugs and medications, surgical procedures are in some way related to, or used in the treatment. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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