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.