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-5-19-a 10.15844/pedneurbriefs-5-3-3 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant CHARGE Syndrome 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 03 1991 01 07 2016 5 3 19 19 Copyright: © 1991 The Author(s) 1991 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. CHARGE and Joubert’s Syndromes: Are they a single disorder?

A 12 month old male infant with the CHARGE syndrome (Coloboma, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, Ear anomalies or deafness) is reported from the Departments of Pediatrics and Neurology, Loyola University, Chicago.

 CHARGE Syndrome Cerebellar Vermis Pachygyria

A 12 month old male infant with the CHARGE syndrome (Coloboma, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, Ear anomalies or deafness) is reported from the Departments of Pediatrics and Neurology, Loyola University, Chicago. The infant was admitted with repeated cyanotic episodes and generalized seizures. CT revealed agenesis of the cerebellar vermis and a large fourth ventricular cyst. Brain stem auditory evoked responses showed dysfunction of the distal VIII nerve. [1]

COMMENT. This patient also had Joubert’s syndrome (agenesis of the cerebellar vermis, respiratory irregularities, ocular colobomas). Chromosomes were normal. The authors believe that these two syndromes are a single disorder with an overlap of characteristic features.

Various associated abnormalities of brain development may be detected by studies of evoked potentials [2]. Auditory brain stem responses were abnormal in cases of holoprosencephaly, lissencephaly, pachygyria and generalized megalencephaly. Visual evoked potentials were normal in collosal agenesis, holoprosencephaly and colpocephaly; they were abnormal in septal optic dysplasia and optic nerve hypoplasia.

 Menenzes M Coker S.B CHARGE and Joubert’s Syndromes: Are they a single disorder? Pediatr Neurol 1990 Nov-Dec 6 6 428 430 10.1016/0887-8994(90)90015-S 1981467 Coupland SG Sarnat HB Visual and auditory evoked potential correlates of cerebral malformations Brain Dev 1990 12 5 466 472 10.1016/S0387-7604(12)80209-9 2288376