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
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