Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One

Sugarman, Gerald I.; Landing, Benjamin H.; Reed, William B.

doi:10.1177/000992287701600304

Cited by 51 publications

(26 citation statements)

References 13 publications

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“…Our cases showed the typical features of CS [ 1,2], with cachectic dwarfism, microcephaly, mental retardation, characteristic faces, ataxia, pigmentary degeneration of the retina, deafness, intracranial calcifications and photo sensitivity.…”

Section: Discussionsupporting

confidence: 50%

“…Cockayne's syndrome (CS) is a rare autosomal reces sive disease characterized by cachectic dwarfism, mental retardation, microcephaly, ataxia, retinal pigmentation, sensorineural hearing loss, progcroid features and photo sensitivity [1,2]. 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.…”

Section: Introductionmentioning

confidence: 99%

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

Iwasaki

Kaga²,

Yagi³

et al. 1996

ORL

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Two siblings with Cockayne’s syndrome (CS) are described. Both showed cachectic dwarfism, photosensitivity and progressive neurological dysfunction. The damped-rotation test revealed no vestibular nystagmus in one of them, and reduced perrotatory nystagmus in the other. Neuropathological examination in the former subject disclosed neuronal loss with fibrillary gliosis in the vestibular nuclei, whereas neuronal degeneration was not apparent in the abducens nuclei, the oculomotor nuclei and the paramedian pontine reticular formation. Our findings suggest that CS might cause vestibular dysfunction as well as hearing loss and that the lesions in the vestibular nuclei might be related to the vestibular dysfunction.

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Section: Discussionsupporting

confidence: 50%

Section: Introductionmentioning

confidence: 99%

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

Iwasaki

Kaga²,

Yagi³

et al. 1996

ORL

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“…One should note that the renal anomalies described by Ohno and Hirooka (10) and by Riggs and Seifert (12) could be associated with immunological disturbances. In addition, children with Cockayne syndrome show an abnormal incidence of infections (8,9,14).…”

Section: Discussionmentioning

confidence: 99%

Decrease of Thymic Hormone Serum Level in Cockayne Syndrome

Bensman

Dardenne

et al. 1982

Pediatr Res

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“…Hand and other tremors were reported in 11/16 survey individuals and in 11 moderately affected children in the literature [Neill and Dingwall, 1950;Macdonald et al, 1960;Spark, 1965;Norman and Tingey, 1966;Lyon et al, 1968;Land and Nogrady, 1969;Rowlatt, 1969;Sugarman et al, 1977;Cook, 1982;Houston et al, 1982;Sugita et al, 1987;Boltshauser et al, 1989;Neilan et al, 2008]. Studies often them described as ''coarse tremors'' or ''intention tremors.''…”

Section: Moderate Csmentioning

confidence: 99%

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

105

109

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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).

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Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One

Cited by 51 publications

References 13 publications

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

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

Decrease of Thymic Hormone Serum Level in Cockayne Syndrome

A comprehensive description of the severity groups in Cockayne syndrome

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