Epilepsy telangiectasia


Epilepsy - telangiectasia: A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids.


The list of signs and symptoms mentioned in various sources for Epilepsy - telangiectasia includes the 10 symptoms listed below: * Conjunctival telangiectasia * Mental retardation * Seizures * Short stature * Abnormal tooth positioning * Finger irregularities * Immunoglobulin dysfunction * Peculiar face * Synophrys * Short fifth finger


IgA deficiency seems to be linked to autosomal dominant or recessive inheritance. The disorder has familial trends and occurs frequently in immediate relatives of individuals with common variable immunodeficiency. The presence of normal numbers of peripheral blood lymphocytes carrying IgA receptors and of normal amounts of other immunoglobulins suggests that B cells may not be secreting IgA, as they haven’t matured into IgA-producing plasma cells. Congenital intrauterine infection with rubella, toxoplasmosis, or cytomegalovirus can result in selective IgA deficiency. Treatment for seizures with phenytoin and hydantoin, as well as Wilson disease (an inherited disorder treated with penicillamine), can result in temporarily acquired selective IgA deficiency. When the medications are stopped, the IgA level returns to normal. Some drugs such as anticonvulsants may cause transient IgA deficiency.


The phrase "signs of Epilepsy - telangiectasia" should, strictly speaking, refer only to those signs and symptoms of Epilepsy - telangiectasia that are not readily apparent to the patient. The word "symptoms of Epilepsy - telangiectasia" is the more general meaning; see symptoms of Epilepsy - telangiectasia. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Epilepsy - telangiectasia. This medical information about signs and symptoms for Epilepsy - telangiectasia has been gathered from various sources, may not be fully accurate, and may not be the full list of Epilepsy - telangiectasia signs or Epilepsy - telangiectasia symptoms. Furthermore, signs and symptoms of Epilepsy - telangiectasia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Epilepsy - telangiectasia symptoms.


Selective IgA deficiency has no known cure. Treatment aims to control symptoms of associated diseases, such as respiratory and GI infections, and is generally the same as for a patient with normal IgA. ALERT Don’t give an IgA-deficient patient immune globulin (IV Ig) because sensitization may lead to anaphylaxis during future administration of blood products. If transfusion with blood products is necessary, minimize the risk of adverse reaction by using washed red blood cells or avoid the reaction completely by crossmatching the patient’s blood with that of an IgA-deficient donor.