Cockayne syndrome in adults

Review with clinical and pathologic study of a new case

Isabelle Rapin, Karen M. Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil Merchant, Sindu Krishna, Dennis W. Dickson

Research output: Contribution to journalArticle

74 Citations (Scopus)

Abstract

Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 311/2 years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum-Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the premature aging, but why patients with mutations in xeroderma pigmentosum genes present with the Cockayne syndrome phenotype is still not known.

Original languageEnglish (US)
Pages (from-to)991-1006
Number of pages16
JournalJournal of Child Neurology
Volume21
Issue number11
DOIs
StatePublished - Nov 2006

Fingerprint

Cockayne Syndrome
Xeroderma Pigmentosum
Cachexia
Premature Aging
Dementia
Growth
DNA Repair-Deficiency Disorders
Spiral Ganglion
Organ of Corti
Subdural Hematoma
Premature Mortality
Clinical Pathology
Muscular Atrophy
Status Epilepticus
Vision Disorders
Oligodendroglia
Brain
Genetic Association Studies
Paresis
Ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Rapin, I., Weidenheim, K. M., Lindenbaum, Y., Rosenbaum, P., Merchant, S., Krishna, S., & Dickson, D. W. (2006). Cockayne syndrome in adults: Review with clinical and pathologic study of a new case. Journal of Child Neurology, 21(11), 991-1006. https://doi.org/10.1177/08830738060210110101

Cockayne syndrome in adults : Review with clinical and pathologic study of a new case. / Rapin, Isabelle; Weidenheim, Karen M.; Lindenbaum, Yelena; Rosenbaum, Pearl; Merchant, Saumil; Krishna, Sindu; Dickson, Dennis W.

In: Journal of Child Neurology, Vol. 21, No. 11, 11.2006, p. 991-1006.

Research output: Contribution to journalArticle

Rapin, I, Weidenheim, KM, Lindenbaum, Y, Rosenbaum, P, Merchant, S, Krishna, S & Dickson, DW 2006, 'Cockayne syndrome in adults: Review with clinical and pathologic study of a new case', Journal of Child Neurology, vol. 21, no. 11, pp. 991-1006. https://doi.org/10.1177/08830738060210110101
Rapin, Isabelle ; Weidenheim, Karen M. ; Lindenbaum, Yelena ; Rosenbaum, Pearl ; Merchant, Saumil ; Krishna, Sindu ; Dickson, Dennis W. / Cockayne syndrome in adults : Review with clinical and pathologic study of a new case. In: Journal of Child Neurology. 2006 ; Vol. 21, No. 11. pp. 991-1006.
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