1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-4-27-b 10.15844/pedneurbriefs-4-4-4 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Cerebellar Vermis Agenesis http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 04 1990 01 08 2016 4 4 27 28 Copyright: © 1990 The Author(s) 1990 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling

The syndromes of vermal agenesis are reviewed from the Department of Pediatrics, Hopital des Enfants Malades, Paris, France.

 Cerebellar Vermis Joubert Syndrome Pipecolic Acid

The syndromes of vermal agenesis are reviewed from the Department of Pediatrics, Hopital des Enfants Malades, Paris, France. These include the Dandy-Walker syndrome and other complicated cases associated with multiple abnormalities. The Dandy-Walker syndrome consists of three abnormalities of development: 1) Partial or complete agenesis of the vermis of the cerebellum; 2) cystic formation in the posterior fossa communicating with the fourth ventricle; and 3) hydrocephalus. Enlargement of the posterior fossa and elevation of the torcular and lateral sinuses are sometimes included among the diagnostic criteria. Associated abnormalities include agenesis of the corpus callosum (7-15% of patients), occipital encephalocele (18%), cleft lip and palate, cardiac malformations, urinary tract abnormalities, and minor facial dysmorphisms. The prognosis is guarded, 75% having borderline IQ or lower, and a mortality rate of 27% in some series. Various chromosomal abnormalities have been demonstrated in a few patients but their significance is unclear. There is a 1-2% chance of recurrence in the same family. Syndromes of agenesis of the cerebellar vermis of genetic origin are distinguished from the Dandy-Walker malformation. These include Joubert syndrome, Walker-Warburg syndrome, Meckel-Gruber syndrome, and atypical Dandy-Walker with facial angioma. Joubert syndrome includes panting respirations, abnormal eye movements, facial asymmetry and ataxia, in addition to vermian agenesis. The MRI shows an umbrella shaped fourth ventricle. Walker-Warburg syndrome includes lissencephaly, retinal abnormalities and hydrocephalus. Meckel-Gruber syndrome is characterized by occipital encephalocele, polycystic kidneys, Polydactyly and hydrocephalus. Some have congenital muscular dystrophy in addition. The inheritance pattern is autosomal recessive. An MRI with median sagittal cuts is usually required in the diagnosis of partial agenesis. No reliable metabolic marker has been determined but some cases of vermian agenesis are associated with abnormal urinary excretion of succinyl-purines and pipecolic acid. Shunting operations are required when hydrocephalus develops. Operations on the posterior fossa have a high rate of failure. Prognosis depends on the occurrence of other CNS abnormalities. [1]

COMMENT. In patients with agenesis of the cerebellar vermis a correct diagnosis is important in therapy, genetic counseling, and prognosis. Cases with complications which are usually autosomal recessive in inheritance and having a poor prognosis must be distinguished from the typical Dandy-Walker syndrome which is often amenable to surgical therapy.

 Bordarier C Aicardi J Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling Dev Med Child Neurol 1990 Apr 32 4 285 294 10.1111/j.1469-8749.1990.tb16939.x 2185113