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Literature DB >> 2779780

MRI in Cockayne syndrome type I.

E Boltshauser¹, C Yalcinkaya, W Wichmann, F Reutter, A Prader, A Valavanis.

Abstract

MRI findings are reported from two patients with Cockayne syndrome (CS) type I, aged 11 and 37 years. Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient. MRI may support the diagnosis of CS in the appropriate clinical context. The view that CS is a dysmyelinating disorder is further substantiated.

Entities: Disease Gene Species

Mesh：

Year: 1989 PMID： 2779780 DOI： 10.1007/BF00344359

Source DB: PubMed Journal: Neuroradiology ISSN： 0028-3940 Impact factor: 2.804

9 in total

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Authors: A R Lehmann; A J Francis; F Giannelli
Journal: Lancet Date: 1985-03-02 Impact factor: 79.321

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Authors: F Colabucci; A Rossodivita; A Parigi; N Colavita
Journal: Rays Date: 1987 May-Aug

3. Cockayne syndrome: MRI correlates of hypomyelination.

Authors: O Dabbagh; K F Swaiman
Journal: Pediatr Neurol Date: 1988 Mar-Apr Impact factor: 3.372

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Authors: A Moosa; V Dubowitz
Journal: Arch Dis Child Date: 1970-10 Impact factor: 3.791

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Authors: R B Lowry
Journal: Am J Med Genet Date: 1982-10

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Authors: E D Levinson; A W Zimmerman; M L Grunnet; R A Lewis; T J Spackman
Journal: J Comput Assist Tomogr Date: 1982-12 Impact factor: 1.826

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Authors: D Soffer; H W Grotsky; I Rapin; K Suzuki
Journal: Ann Neurol Date: 1979-10 Impact factor: 10.422

8. Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.

Authors: H Nishio; S Kodama; T Matsuo; M Ichihashi; H Ito; Y Fujiwara
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

9. Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

Authors: M G Smits; F J Gabreëls; W O Renier; E M Joosten; A A Gabreëls-Festen; H J ter Laak; A J Pinckers; G C Hombergen; S L Notermans; H O Thijssen
Journal: Neuropediatrics Date: 1982-08 Impact factor: 1.947

9 in total

12 in total

1. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.

Authors: A Peserico; P A Battistella; P Bertoli
Journal: Neuroradiology Date: 1992 Impact factor: 2.804

2. Cranial CT and MRI in diseases with DNA repair defects.

Authors: P Demaerel; B E Kendall; D Kingsley
Journal: Neuroradiology Date: 1992 Impact factor: 2.804

3. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.

Authors: A R Lehmann; A F Thompson; S A Harcourt; M Stefanini; P G Norris
Journal: J Med Genet Date: 1993-08 Impact factor: 6.318

4. A Rare Case of Cockayne Syndrome-MRI Features.

Authors: Praveen Mundaganur
Journal: J Clin Diagn Res Date: 2012-11

5. Neuroimaging in Cockayne syndrome.

Authors: M Koob; V Laugel; M Durand; H Fothergill; C Dalloz; F Sauvanaud; H Dollfus; I J Namer; J-L Dietemann
Journal: AJNR Am J Neuroradiol Date: 2010-06-03 Impact factor: 3.825

6. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Authors: Laila Shehata; Dimitre R Simeonov; Anja Raams; Lynne Wolfe; Adeline Vanderver; Xueli Li; Yan Huang; Shannon Garner; Cornelius F Boerkoel; Audrey Thurm; Gail E Herman; Cynthia J Tifft; Miao He; Nicolaas G J Jaspers; William A Gahl
Journal: Am J Med Genet A Date: 2014-09-22 Impact factor: 2.802