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-11-15-b 10.15844/pedneurbriefs-11-2-11 Developmental and Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Menkes’ Syndrome with Cerebellar Hypoplasia 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 02 1997 01 05 2016 11 2 15 15 Copyright: © 1997 The Author(s) 1997 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. A case of Menkes’ syndrome associated with deafness and inferior cerebellar vermian hypoplasia

A 14-month-old boy with Menkes’ kinky hair syndrome (MS) associated with deafness and inferior cerebellar vermian hypoplasia was admitted with convulsions and urinary infection at Karadeniz Technical University, Trabzon, Turkey.

 Menkes’ Kinky Hair Syndrome Cerebellar Vermian Hypoplasia X-Linked Recessive Disorder

A 14-month-old boy with Menkes’ kinky hair syndrome (MS) associated with deafness and inferior cerebellar vermian hypoplasia was admitted with convulsions and urinary infection at Karadeniz Technical University, Trabzon, Turkey. Physical findings included microcephaly, growth and weight < 3rd percentile, developmental retardation, coarse wiry hair (pili torti), optic atrophy, and spastic diplegia. MRI showed subdural effusion, cerebral atrophy, and inferior vermian hypoplasia. Cystography revealed bladder diverticulae. Serum copper was 69 g/dl and ceruloplasmin 4.45 mg/dl. [1]

COMMENT. Several variants of Menkes’ syndrome have been recognized, including an ataxic presentation [2]. This appears to be the first documentation of a case with cerebellar hypolasia. The syndrome is an X-linked recessive disorder, and the gene has been assigned to Xq 13.

Aynaci FM Mocan H Bahadir S Sari A Aksoy A A case of Menkes’ syndrome associated with deafness and inferior cerebellar vermian hypoplasia Acta Paediatr 1997 Jan 86 1 121 123 10.1111/j.1651-2227.1997.tb08848.x 9116418 Menkes JH Textbook of Child Neurology Philadelphia Lea & Febiger