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At a glance

A severe polymalformative syndrome leading to death within the newborn period and characterized by malformations of kidneys, facial features, and multiple visceral and cerebral anomalies.

Synonym

Renal Dysplasia with Hepatic Fibrosis and Dandy-Walker.

Incidence

Two cases of premature babies who died in the early neonatal period are reported.

Genetic inheritance

The inheritance mode remains unknown.

Clinical aspects

Characteristic cystic dysplastic kidneys. Congenital hepatic fibrosis, Dandy-Walker malformation, and hydrocephalus complete the syndrome. The fourth ventricle in both patients was cystic, with dilated third and lateral ventricles. The vermis cerebelli was absent in both patients. Dysmorphic facies, including low-set ears, flattened nose, hypertelorism, and microphthalmos were present.

Anesthetic considerations

Both, dysplastic kidneys and fibrotic liver most likely have impaired function. Kidney dysfunction may cause electrolyte abnormalities, hyper- or hypovolemia, and abnormal platelet function. Liver dysfunction may cause abnormal glucose regulation, coagulation status, ascites, and many other problems. Pharmacodynamics and pharmacokinetics of anesthetic and other drugs will be affected. Hydrocephalus and raised intracranial pressure may be present.

Other conditions to be considered

  • Goldston Syndrome: Characterized by a combination of central nervous malformations (including Dandy-Walker malformation), renal dysplasia, and hepatic and pancreatic malformation.

  • ☞Meckel-Gruber Syndrome: Characterized by a combination of sloping forehead, occipital encephalocele, Dandy-Walker malformation, renal cysts, hepatic ductal dysplasia and cysts, polydactyly and polycystic kidneys. It is genetically transmitted as an autosomal recessive trait.

References

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Kudo  M, Tamura  K, Fuse  Y: Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. Am J Clin Pathol 84:459, 1985.  [PubMed: 4036877]

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