MR Findings of Cerebral White Matter in Cockayne Syndrome

Adachi, Michito; Kawanami, Toru; Ohshima, Fumi; Hosoya, Takamitsu

doi:10.2463/mrms.5.41

Cited by 11 publications

(10 citation statements)

References 15 publications

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“…5,6 In some of our patients, as in another similar study, 11 foci of hypointensity were observed within the hyperintense white matter on T2-weighted images. This probably reflects the histopathologic "tigroid leukodystrophy," which corresponds to areas of preserved perivascular myelin within a deficient myelin area.…”

Section: Neuroimaging Diagnosis Of Cssupporting

confidence: 59%

“…The metabolic profile of NAA in gray and white matter suggests a decrease in neuronal and axonal attenuation in all types of CS, and as in PelizaeusMerzbacher disease, this may be related to secondary neuroaxonal degeneration as well. 15 Secondary demyelination and astrogliosis were present in some patients in our cohort and have been previously mentioned in MR imaging and pathology reports of CS cases, [6][7][8][9] as well as in other hypomyelinating disorders such as PelizaeusMerzbacher disease. 17 Brain calcifications were seen in infants as young as 1 year of age in our cohort and from 6 months of age in a previous report.…”

Section: Neuroimaging Diagnosis Of Csmentioning

confidence: 88%

“…White matter signal-intensity anomalies in CS have been diversely attributed to demyelination 6 or hypomyelination 4,5 in previous reports. Our data, including 1 H-MR spectroscopy imaging, indicate that CS is primarily a hypomyelinating disorder.…”

Section: Neuroimaging Diagnosis Of Csmentioning

confidence: 99%

“…Previously published CS imaging studies have described major brain atrophy, calcifications in the basal ganglia, and a lack of myelination of the white matter, but whether these findings are due to hypomyelination or demyelination remains unclear. [3][4][5][6] However, most imaging reports on CS were based on isolated case reports or a small series of cases that were not all biochemically or genetically confirmed.…”

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confidence: 99%

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Neuroimaging In Cockayne Syndrome

Koob¹,

Laugel²,

Durand³

et al. 2010

AJNR Am J Neuroradiol

100

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SUMMARY:CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, 1 H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were the main imaging features. Calcifications were typically found in the putamen and less often in the cortex and dentate nuclei. Severe progressive atrophy was seen in the supratentorial white matter, the cerebellum, the corpus callosum, and the brain stem. Patients with early-onset disease displayed more severe hypomyelination and prominent calcifications in the sulcal depth of the cerebral cortex, but atrophy was less severe in late-onset patients. On proton MR spectroscopy, lactate was detected and Cho and NAA values were decreased. These combined neuroradiologic findings can help in the differential diagnosis of CS, distinguishing it from other leukoencephalopathies and/or cerebral calcifications in childhood., ABBREVIATIONS: Cho ϭ choline; Cr ϭ creatine; CS ϭ Cockayne syndrome; COFS ϭ cerebro-oculofacio-skeletal syndrome; FLAIR ϭ fluid-attenuated inversion recovery; NAA ϭ N-acetylaspartate

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Section: Neuroimaging Diagnosis Of Cssupporting

confidence: 59%

Section: Neuroimaging Diagnosis Of Csmentioning

confidence: 88%

Section: Neuroimaging Diagnosis Of Csmentioning

confidence: 99%

mentioning

confidence: 99%

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Neuroimaging In Cockayne Syndrome

Koob¹,

Laugel²,

Durand³

et al. 2010

AJNR Am J Neuroradiol

100

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“…Each of these individuals was in the CS-A or CS-B complementation group. Other individuals with likely diagnoses of mild CS were aged 14-28 (4 siblings) [Hamdani et al, 2000], 24 [Fryns et al, 1991], 25 [Kennedy et al, 1980], 37 [Boltshauser et al, 1989], 40 [Adachi et al, 2006], and 39-40 [Morris et al, 2007]. A recent review article presents an excellent overview of CS in adults [Rapin et al, 2006].…”

Section: Fig 2 Patient 2 Very Mildmentioning

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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Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration

Kuki

Kawawaki

Okazaki

et al. 2011

American J of Med Genetics Pt A

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We report on a 12-year-old male with a unique cerebral white matter disease. His initial symptoms were congenital hearing loss and multiple intracranial calcifications on head CT. He developed severe intellectual disability and epilepsy. MRI showed signal abnormalities in the posterior limbs of the internal capsules, thalami, and cerebral white matter. The abnormalities were progressive over time. The neuropathology revealed diffuse and severe disruption of myelin and axons of the cerebral white matter and cerebrospinal tracts. We performed various metabolic examinations, detailed pathological investigations and genetic analyses, but could not identify the cause. To our knowledge his clinical course has not been described in the literature.

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MR Findings of Cerebral White Matter in Cockayne Syndrome

Cited by 11 publications

References 15 publications

Neuroimaging In Cockayne Syndrome

Neuroimaging In Cockayne Syndrome

A comprehensive description of the severity groups in Cockayne syndrome

Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration

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