MIDAS Syndrome

MIDAS is an acronym for microphthalmia, dermal aplasia, and sclerocornea. This genetic disorder is characterized by irregular linear skin erythema of head and neck, microphthalmia, corneal opacities, diaphragmatic hernia, respiratory distress, and absent cerebral septum pellucidum leading to seizures.

Microphthalmia-Linear Skin Defects Syndrome; MLS.

Approximately 20 cases described. Transmitted as an X-linked dominant trait; lethal in males. Mapped to the short arm of chromosome X (Xp22.31). It is considered as an X-linked phenotype distinct from Goltz syndrome.

Midfacial hypoplasia and linear erythematous skin lesions, narrow and deformed ears, unilateral or bilateral microphthalmia, anterior chamber anomalies (corneal opacity, sclerocornea, orbital cysts, unplanted palpebral fissures and chorioretinal abnormalities). Focal dermal hypoplasia or aplasia affecting usually the face, scalp, and neck. Looks like linear burns or cuts at birth but heals without scar, or the skin can remain pigmented and depressed at those places. Mild short stature. Diaphragmatic hernia and rare occurrence of cardiac defects (atrial septal defect, ventricular septal defect, one case of cardiomyopathy, conduction defect, supraventricular tachycardia, and ventricular fibrillation). In one case, the autopsy showed persistent gross trabeculation of the left ventricle and an arteria lusoria. Hydrocephalus, agenesis of corpus callosum, seizures, absence of septum pellucidum, and ectopic gray and white matter.

Check for the presence of diaphragmatic hernia and cardiomyopathy. Ventricular fibrillation seems to result from polymorphic ventricular tachycardia and is refractory to medical treatment. Perform echocardiography to eliminate cardiac malformations and ECG to determine conduction defect. Elective surgery should be postponed until complete electrophysiologic study of the heart has been performed.

Anesthetic considerations are those associated with cardiac problems, potential peroperative threatening arrhythmias, and raised intracranial pressure.

Use of anesthetic agents that increase risk of arrhythmia should be avoided. Patients presenting with seizures activities should receive their routine preoperative anticonvulsant medications and intraoperative supplementation of an intravenous antiepileptic agent may be needed for prolonged procedures.

Goltz Syndrome: Complex mesoectodermal hereditary disorder characterized by focal dermal atrophy with herniation of fat-producing multiple papillomas, in association with a skeletal, dental, ocular, and other anomalies.

Aicardi Syndrome: Rare disorder characterized by partial or complete agenesis of the corpus callosum, infantile spasms (spasm-like epilepsy), mental retardation, and an ocular abnormality called lacunae of the retina. Often associated with other features such as microcephaly and porencephalic cysts. Onset generally begins between the ages of 3 and 5 months. The disorder affects only females.