Cockayne's syndrome: case report

Crome, L.; Kanjilal, G. C.

doi:10.1136/jnnp.34.2.171

Cited by 35 publications

(26 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In boys, changes in muscle tone and deepened voices were observed by the study author, reported by parents and have been described in the literature [Fryns et al, 1991;Nance and Berry, 1992;Miyauchi et al, 1994;Ellaway et al, 2000;Hamdani et al, 2000]. In girls, breast and pubic hair growth occurred (survey/literature) [Crome and Kanjilal, 1971;Kennedy et al, 1980;Inoue et al, 1997;Lahiri and Davies, 2003]. Parents reported mood changes and increased interest in members of the opposite sex in their adolescent children.…”

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 53%

“…The average age of death in the mild group was 30.3 years, with a wide range (survey/literature; Table V) [Crome and Kanjilal, 1971;Brumback et al, 1978;Shemen et al, 1984;Inoue et al, 1997;Rapin et al, 2006;Morris et al, 2007]. A cause of death was identifiable in 6 cases, including 1 from the literature.…”

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 97%

“…A cause of death was identifiable in 6 cases, including 1 from the literature. They were pneumonia/respiratory ailment: 3; cardiac arrest: 1; liver failure: 1; and status epilepticus: 1 [Crome and Kanjilal, 1971].…”

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 99%

See 2 more Smart Citations

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

104

109

View full text Add to dashboard Cite

Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype. The variation is sufficiently wide that CS patients have traditionally been described in three different severity groups. Unfortunately, there is no single source for information about the different severity groups. This problem can complicate not only diagnosis, but accurate prognosis as well. The goal of this study was to describe the phenotypic variation in CS as completely as possible. This article provides extensive descriptions of traits common to each group and their degree of severity in each group. Forty-five people with CS were surveyed and information from the published literature was used to increase the sample sizes for calculations. This study provides new information, including statistical data for each of the three severity groups (mean age at death, average head circumference, and average length or stature). The study includes cerebro-oculo-facial syndrome (COFS) as a severe form of CS, based on results of recently published genetic studies performed by other authors. This study proposes revised names for CS severity groups: severe, moderate, and mild. The groups were formerly called Type II/early onset CS, Type I/classical CS, and Type III/atypical/mild/late-onset CS, respectively. A fourth newly documented group, UV sensitivity only/adult onset, is also described. Average ages of death were calculated as 5.0 years (severe), 16.1 years (moderate), and 30.3 years (mild).

show abstract

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 53%

Section: Fig 2 Patient 2 Very Mildmentioning

confidence: 97%

See 1 more Smart Citation

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

104

109

View full text Add to dashboard Cite

show abstract

“…Hypertensive nephrosclerosis can occur much earlier, as in two brothers aged 14 and 15 years and a 4-year-old girl. 45 Aortic atherosclerosis was found in case 6 and was also mentioned in cases 11 30 and 14 31 and in the 14-year-old boy just mentioned. 45 Systemic atherosclerosis is not universal because it was not present at age 40 years in case 3.…”

Section: Premature Aging and Cardiovascular Diseasementioning

confidence: 81%

“…The main neuropathologic features of cases 3, 23 6,7,25,26 9, 28 and 14 31 were severe loss of both central and peripheral myelin, cerebellar atrophy, and basal ganglia calcification without evidence of gross brain malformation or major architectural alteration. The basis for thinning of the neocortex remains to be investigated.…”

Section: Neuropathologymentioning

confidence: 96%

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

et al. 2006

View full text Add to dashboard Cite

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 31½ 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.

show abstract

Normal Pressure Hydrocephalus

Brumback¹

1978

Arch Neurol

View full text Add to dashboard Cite

Cockayne's syndrome: case report

Cited by 35 publications

References 11 publications

A comprehensive description of the severity groups in Cockayne syndrome

A comprehensive description of the severity groups in Cockayne syndrome

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

Normal Pressure Hydrocephalus

Contact Info

Product

Resources

About