Characterized by paroxysmal tachycardia, hypertension, syncope and seizures. It is associated with dominantly inherited microphthalmos, cataracts, and renal stones. Hyperglycinuria has been suggested as the responsible cause.
This medical condition has been described in a brother and sister in 1967. There are very few cases reported in the literature. It is suggested to be inherited as an autosomal recessive trait.
Characterized by the clinical presentation of tachycardia, severe vascular hypertension, microphthalmos, visual loss, seizures, cataracts, and kidney stones. Other clinical features include cardiac conduction defects, paroxysmal tachycardia, nystagmus, glaucoma/buphthalmos, and xanthomas/lipomas. It is believed to be caused by a disturbance in glycine metabolism.
It is recommended to obtain a cardiology consultation. A 12-lead ECG, chest x-ray, and possible echocardiography should be obtained. Evaluate for end-organ damage as a result of chronic hypertension. A complete cell blood count, electrolytes, BUN, creatine, and blood glucose levels should be measured before anesthesia. Patients are at risk for paroxysmal supraventricular tachycardia (usually sinus tachycardia) in the perioperative period. Severe hypertensive episodes may be encountered; maintenance of antihypertensive therapy must be maintained until the morning of anesthesia. Consider preoperative beta-blocker, calcium channel blocker, and/or angiotensin converting enzyme (ACE) inhibitor before general anesthesia. Hypertension must be controlled before elective surgery. Because of the presence of vascular hypertension, it is important to ensure that the intravascular volume is adequate before induction of anesthesia. A review of the medication used to control the seizure activities must be obtained. The antiseizure medication must be continued until the morning of surgery.
Cardiac conduction defects, i.e., paroxysmal supraventricular tachycardia and/or sinus tachycardia, and severe possible vascular hypertension are considered major potential complications during induction of anesthesia. Direct current or pharmacological cardioversion may become necessary and should be readily available. It may be necessary to treat hypertension perioperatively as well. Patients may have relative intravascular volume deficit as a result of hypertension and should be corrected before induction of anesthesia.
Avoid anesthetic agents leading to cardiovascular stimulation such as sympathomimetic agents that may initiate a hypertensive response and/or paroxysmal tachycardia perioperatively. Patients are usually premedicated with antihypertensive medications. The use of intravenous antiseizure medications should be considered during long surgical procedures.
Adams CW, Nance WE: Persistent tachycardia, paroxysmal hypertension, and seizures: Association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts. JAMA