Goldston Syndrome

At a glance

Very rare congenital genetic disorder with hepatoreno-pancreatic involvement combined with Dandy-Walker malformation associated with polycystic kidneys. The Dandy-Walker malformation is characterized by triad of cerebellar vermis agenesis with posterior fossa cyst communicating with the fourth ventricle and enlargement of posterior fossa.

Synonym

Renal-Hepatic-Pancreatic Dysplasia Dandy-Walker Cyst Syndrome.

Incidence and genetic inheritance

Very rare syndrome (<10 cases worldwide) with probably autosomal recessive inheritance.

Clinical aspects

Main features are dysplastic kidneys, pancreas and liver anomalies, and presence of ☞Dandy-Walker Malformation. Other features can include oligoamnios, polyhydramnios, hypoplastic lungs, and duplication of the gut.

Precautions before anesthesia

Assess liver, renal, and pancreatic function. Obtain a complete blood cell count (renal anemia) and check blood glucose. Check for history of apnea (Dandy-Walker malformation) and signs of increased intracranial pressure. Assess for signs of difficult airway management.

Anesthetic considerations

High rate of anesthetic implications. Hepatic, renal, neurologic, respiratory, and liver function should be assessed and their influence on anesthetic drug metabolism and perioperative fluid regimen should be considered. Avoid hypotension, hypercapnia, and increased body temperature in the presence of increased intracranial pressure.

Pharmacological implications

In the presence of hepatic and/or renal anomalies, cis-atracurium is the neuromuscular blocker of choice, and isoflurane and desflurane are the inhalational anesthetics of choice, although sevoflurane is expected not to cause any harm if used for a short period of time (eg, induction of anesthesia).

References