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Literature DB >> 4999043

Cockayne's syndrome: case report.

Abstract

The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy with some secondary degenerative changes in the contiguous tissue, and granular ependymitis.

Entities: Disease Species

Mesh：

Year: 1971 PMID： 4999043 PMCID： PMC493729 DOI： 10.1136/jnnp.34.2.171

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

7 in total

1. COCKAYNE'S SYNDROME. A REPORT OF FIVE NEW CASES WITH BIOCHEMICAL, CHROMOSOMAL, DERMATOLOGIC, GENETIC AND NEUROPATHOLOGIC OBSERVATIONS.

Authors: R M PADDISON; J MOOSSY; V J DERBES; W KLOEPFER
Journal: Dermatol Trop Ecol Geogr Date: 1963 Oct-Dec

2. Cockayne's syndrome. An heredo-familial disorder of growth and development.

Authors: W B MACDONALD; K D FITCH; I C LEWIS
Journal: Pediatrics Date: 1960-06 Impact factor: 7.124

3. Microcephaly with extensive calcium deposits and demyelination.

Authors: G A JERVIS
Journal: J Neuropathol Exp Neurol Date: 1954-04 Impact factor: 3.685

4. A syndrome resembling progeria: A review of two cases.

Authors: C A NEILL; M M DINGWALL
Journal: Arch Dis Child Date: 1950-09 Impact factor: 3.791

5. [Diffuse symmetric calcification in a syndrome including microcephaly and meningoencephalitis].

Authors: I HALLERVORDEN
Journal: Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr Date: 1950

6. Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone.

Authors: W Y Fujimoto; M L Green; J E Seegmiller
Journal: J Pediatr Date: 1969-11 Impact factor: 4.406

7. The neuropathology of Cockayne's syndrome.

Authors: J Moossy
Journal: J Neuropathol Exp Neurol Date: 1967-10 Impact factor: 3.685

7 in total

8 in total

Cockayne's syndrome: case report.

1. COCKAYNE'S SYNDROME. A REPORT OF FIVE NEW CASES WITH BIOCHEMICAL, CHROMOSOMAL, DERMATOLOGIC, GENETIC AND NEUROPATHOLOGIC OBSERVATIONS.

2. Cockayne's syndrome. An heredo-familial disorder of growth and development.

3. Microcephaly with extensive calcium deposits and demyelination.

4. A syndrome resembling progeria: A review of two cases.

5. [Diffuse symmetric calcification in a syndrome including microcephaly and meningoencephalitis].

6. Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone.

7. The neuropathology of Cockayne's syndrome.

Review 1. Cockayne syndrome: Clinical features, model systems and pathways.

2. Ultrastructure of peripheral nerve in Cockayne's syndrome.

3. Cockayne's syndrome and emphysema.

4. Microcephaly and intracranial calcification in two brothers.

5. Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome.

Review 6. Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

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

8. Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling.