Peripheral and Central Myelinopathy in Cockayne's Syndrome. Report of 3 Siblings

Abstract

Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.

Vestibular Findings and Brainstem Pathology in Two Siblings with Cockayne’s Syndrome

“…These findings are compatible with the changes previously described in CS and support the hypothesis that CS is a form of leukodystrophy [3,4], Nystagmus has been reported previously in CS [4-6, 9], but its nature has not been sufficiently described. Cok er et al [9] reported horizontal pendular and gaze-evoked nystagmus in CS patients and attributed them to cerebel lar and brainstem demyelination.…”

“…This syndrome is neuropathologically interpreted as a type of leukodystrophy [3,4], Hearing disorder is one of the characteristic features of CS, and the results of audiological tests including puretone audiometry, tympanometry and auditory brainstem responses have been reported [4][5][6], In contrast, reports on the vestibular functions in CS are rare. We performed the damped-rotation test [7] to evaluate the vestibuloocular reflex (VOR) in 2 siblings with CS, one of whom was also examined neuropathologically.…”

A comprehensive description of the severity groups in Cockayne syndrome

“…They typically interfered with fine motor skills and made patients prone to tripping and falling. In the literature, seven studies described 10 adults or older children with tremors [Kennedy et al, 1980;Smits et al, 1982;Fryns et al, 1991;Miyauchi et al, 1994;Inoue et al, 1997;Ellaway et al, 2000;Rapin et al, 2006].…”

“…IQs in the mild group have been measured in the borderline range (70,74,75,77,78) [Kennedy et al, 1980;Smits et al, 1982;Miyauchi et al, 1994]. Survey data and the literature indicate that IQ declines as the syndrome progresses [Smits et al, 1982].…”

“…Males (n ¼ 11), averaged 131 cm (50th centile for age 8 1 / 2 years) [Smits et al, 1982;Fryns et al, 1991;Nance and Berry, 1992;Miyauchi et al, 1994;Ellaway et al, 2000;Komatsu et al, 2004]. Females (n ¼ 8) averaged 127 cm (50th centile for age 8 years) [Brumback et al, 1978;Kennedy et al, 1980;Miyauchi et al, 1994;Inoue et al, 1997;Lahiri and Davies, 2003;Hashimoto et al, 2008].…”