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Rapidly progressing, lethal-ending genetic syndrome with cardiac, neurologic, hematologic, and skeletal anomalies.

Beemer-van Ertbruggen Syndrome.

Unknown, but extremely rare; presumed autosomal recessive.

Physical appearance, clinical course (lethal), radiologic imaging (dense bones), neuroradiologic imaging (hydrocephalus), echocardiography (double-outlet right ventricle), and complete blood count (thrombocytopenia).

Characterized by a variety of clinical abnormalities, which proved rapidly lethal in the reported cases. External examination reveals ambiguous external genitalia and a bulbous nose with broad nasal bridge. Skeletal bones are denser than normal. The condition is associated with severe cardiac malformations (double-outlet right ventricle). Neurologic examination and imaging demonstrate hydrocephalus. Blood screening reveals a thrombocytopenia.

No reports about anesthesia in these patients exist. However, detailed preoperative assessment is required to determine the extent of cardiac and neurologic malformations. Cardiac consultation with electrocardiogram, echocardiogram, and blood gas analysis to delineate the cardiac lesion and determine the appropriate management is recommended. Neurologic consultation may include CT or MRI. Obtain a complete blood count. Thrombocytopenia may require platelet transfusions. The medical team and parents must have a clear treatment plan.

Anesthetic technique must be tailored to the underlying cardiac malformations. In addition, induction and maintenance of anesthesia must consider the increased intracranial pressure in the presence of hydrocephalus. Early endotracheal intubation and mild hyperventilation lower intracranial pressure. Thrombocytopenia precludes the use of regional techniques. Be prepared for prolonged postoperative ventilation and monitoring.

Care must be taken when sedative and narcotic agents are administered in the presence of hydrocephalus and raised intracranial pressure. Because of their dose-dependent myocardial depressant effects, intravenous and inhalational agents must be carefully titrated to effect in the presence of cardiac malformations. Consider an opioid-based anesthetic technique. In the presence of increased intracranial pressure, isoflurane below 1 MAC is a suitable maintenance agent. The choice of intravenous induction agent is influenced by the cardiac lesion. Thiopentone, benzodiazepines, and propofol are acceptable options in the presence of raised intracranial pressure.

Beemer FA, von Ertbruggen I: Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome. Am J Med Genet 19:391, 1984.  [PubMed: 6507485]

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