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-7-08 10.15844/pedneurbriefs-7-1-13 Degenerative Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Neurodegeneration with Trichorrhexis Invaginata 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 01 1993 01 07 2016 7 1 8 8 Copyright: © 1993 The Author(s) 1993 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. Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia

Two siblings are reported from the Medical College of Ohio with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, hypotonia, areflexia, and progressive neurological deterioration.

 Autosomal Recessive Syndrome Progressive Neurological Deterioration Neuromotor Deterioration

Two siblings are reported from the Medical College of Ohio with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, hypotonia, areflexia, and progressive neurological deterioration. Mutiple abnormalities were observed at birth, and apneic episodes secondary to laryngomalacia occurred in the neonatal period. At 10 months, CT showed early cortical atrophy, and EEG revealed seizure activity and encephalopathy. At 12 months, neuromotor deterioration had progressed and the child was no longer able to suck, did not smile, and did not move her legs. Apneic episodes and respiratory difficulties worsened and she died at 16 months. The sibling with a similar syndrome was alive at 27 months. [1]

COMMENT. Trichorrhexis invaginata, or bamboo hair, is an hair-shaft defect usually found with ichthyosiform dermatoses and Nethertons syndrome. Its significance in relation to the present neurodegenerative disorder is unknown. Hair-shaft abnormalities occur as a feature of various neurological diseases, including Menkes disease, biotin deficiency, and Pollitt syndrome. Electron micrographs of hair samples may be of diagnostic importance in children with neurologic disorders.

 Gyure KA Kurczynski TW Gunning W French BN Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia Pediatr Neurol 1992 Nov-Dec 8 6 469 72 10.1016/0887-8994(92)90012-N 1476579