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Literature DB >> 7341548

Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia.

P Carboni, M Giacanelli, G Porro, G Sideri, A Paolella.

Abstract

A case of a complete Kearns-Sayre syndrome, of early onset, associated with cerebral and cerebellar leukodystrophy and basal ganglia calcification is reported. The clinical, neurophysiological and morphological findings suggest multisystem involvement.

Entities: Disease

Mesh：

Year: 1981 PMID： 7341548 DOI： 10.1007/bf02335406

Source DB: PubMed Journal: Ital J Neurol Sci ISSN： 0392-0461

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References

11 in total

1. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

Authors: T P KEARNS; G P SAYRE
Journal: AMA Arch Ophthalmol Date: 1958-08

2. Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

Authors: R A Berenberg; J M Pellock; S DiMauro; D L Schotland; E Bonilla; A Eastwood; A Hays; C T Vicale; M Behrens; A Chutorian; L P Rowland
Journal: Ann Neurol Date: 1977-01 Impact factor: 10.422

3. A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics.

Authors: G M Shy; D H Silberberg; S H Appel; M M Mishkin; E H Godfrey
Journal: Am J Med Date: 1967-02 Impact factor: 4.965

4. A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure.

Authors: N K Gonatas
Journal: Am J Med Date: 1967-02 Impact factor: 4.965

Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia.

1. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

2. Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

3. A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics.

4. A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure.

5. Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

6. Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue.

7. Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia.

8. Kearns-Sayre syndrome and hypoparathyroidism.

9. Familial Kearns-Sayre syndrome.

10. Basal ganglia calcification in Kearns-Sayre syndrome.