Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calcium deposition in the basal ganglia was seen by CT scan. In both cases nerve conduction velocities were reduced suggesting peripheral neuropathy, but segmental demyelination on sural nerve biopsy was not demonstrated. Twenty seven cases of the syndrome has now been reported in Japan in 21 families (including the above two cases), consisting of 14 males and 12 females (the sex of one case was unknown): consanguineous marriage was confirmed in 14 families. Eleven cases in five families were siblings. The estimated ages of onset were from 1 month to 3 years, and in most cases photosensitivity was the initial symptom. Clinical manifestations were mental retardation in 25 cases (93%), dwarfism in 24 cases (89%), photosensitivity in 23 cases (85%), articular contracture in 22 cases (81%), sunken eyes in 20 cases (74%), retinitis pigmentosa in 17 cases (63%), deafness in 16 cases (59%), and intracranial calcification in 14 cases (51%). Intracranial calcification will be more often detected in future following the development of CT scanning.
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PMID:Cockayne syndrome: report of two siblings and review of literature in Japan. 55 50

A case report of an apparently unique progeroid syndrome is reported here. Major clinical characteristics included growth failure with onset of senility in the early teens, atrophic skin, hypogonadism, and retinal and vascular sclerosis. Mental retardation was present, but could have been attributable to trauma. The replicative life spans of several lines of cultured skin fibroblasts were within the normal range, in contrast to the limited life-spans of such cultures from patients with Werner's syndrome, whom our patient most closely resembles. Also, in contrast to Werner's syndrome, our patient did not have white or gray hair or cataracts.
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PMID:Children who age rapidly--progeroid syndromes: case report of a new variant. 83 28

Cockayne's syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. The case of a 4-year-old male with Cockayne's syndrome is presented. A dental rehabilitation involving outpatient surgery is described including the difficulties encountered because of a small oral cavity and restricted mandibular range of motion.
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PMID:Cockayne's syndrome: literature review and case report. 183 21

Photosensitive genodermatoses associated with established defects of DNA repair currently include the autosomal recessive diseases xeroderma pigmentosum (XP), Cockayne's syndrome (CS), trichothiodystrophy (TTD), and Bloom's syndrome (BS). XP is a heterogeneous disorder associated with defective excision repair or daughter strand repair of ultraviolet (UV)-induced DNA damage. It is characterized by cutaneous and ocular abnormalities predominantly on sun-exposed sites and in some cases, neurological features resulting from progressive neuronal loss. Skin involvement includes easy sunburning, pigmentary abnormalities, telangiectasia, dryness, scarring, and susceptibility to multiple benign and malignant neoplasms. In CS, defective repair of actively transcribing DNA is clinically associated with acute photosensitivity, growth retardation, demyelinating neurological abnormalities, and pigmentary retinal degeneration, but without increased cancer susceptibility. TTD is characterized by sulphur-deficient brittle hair, variable growth delay, mental retardation, ichthyosis, and in some cases photosensitivity. Although in some patients there is a deficiency of DNA excision repair identical to that in certain xeroderma pigmentosum patients, no increased cancer risk is present in trichothiodystrophy. In BS, deficient cellular DNA ligase is associated with congenital telangiectasia, photosensitivity, growth retardation, immune deficiency, increased susceptibility to infection, and predominantly internal rather than cutaneous malignancy. Immunological factors may at least determine the varying susceptibility to malignancy of these conditions.
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PMID:DNA repair deficient photodermatoses. 220 44

A nine-year-old boy who exhibited mild proteinuria and severe renal dysfunction with short stature, mental retardation, retinitis pigmentosa, deafness, and intracranial calcification was presented. Clinical features of the patient were in the most part consistent with those of Cockayne's syndrome. On the renal biopsy, two-thirds of the glomeruli had fallen into global sclerosis. The remaining one-third showed thickening of the capillary walls and expansion of the mesangial matrix. Immunofluorescence study proved no significant deposition of immunoglobulins or complements. Electron microscopy revealed diffuse homogeneous thickening of the glomerular basement membrane. These histological findings were thought to be characteristic of the Cockayne's syndrome. Although the pathogenesis of Cockayne's syndrome is yet unknown, its renal lesions resembled those of an aged kidney, and a prematurely aged metabolic state was supposed as a principal cause of the disease.
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PMID:Renal lesions in Cockayne's syndrome. 336 65

Neuropathological findings in two patients with Cockayne's syndrome, a rare familial condition with mental retardation, progressive neurological deficits, progeria, and dwarfism, are described. Both patients showed extensive tigroid demyelination of the white matter and massive calcifications in the striatum, pallidum, and dentate nucleus. In one patient, neurofibrillary tangles were found in neurons in the nucleus basalis of Meynert, locus ceruleus, substantia nigra, and cerebral cortex, while in the other case only a few tangles were seen in the cerebral cortex. Electron microscopy revealed paired helical filaments. The presence of neurofibrillary tangles in Cockayne's syndrome, rarely reported previously, could suggest premature aging of the brain.
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PMID:Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles. 370 54

Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation. Many other diseases have some of these features, so that diagnosis of Cockayne syndrome can be difficult, especially in younger children. Eccrine sweat glands were microdissected from autopsy or biopsy specimens from patients with Cockayne syndrome, and mean values for duct length, secretory coil volume, ratio of coil volume to duct length, and axis ratio of the secretory coil were determined. In comparison with values for eccrine glands of patients with no known genetic or chromosomal disease, eccrine glands in Cockayne syndrome are abnormally small for age. Whether other diseases with various similarities to Cockayne syndrome produce similar growth abnormality of eccrine sweat glands is not known, but determination of sweat gland size may provide data suggesting or supporting the diagnosis of Cockayne syndrome.
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PMID:Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid. 668 86

The clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts. Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and "ivory epiphyses" in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X-linked inheritance cannot be excluded.
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PMID:Identical male twins and brother with Cockayne syndrome. 689 Mar 11

The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.
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PMID:Cockayne syndrome. 717 33

Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis of CS was considered a possibility. Twenty-nine patients showed the defect characteristic of CS cells, and 23 had a normal response. We have attempted to correlate the cellular diagnosis with the different clinical features of the disorder. Clinical details of the patients were obtained from referring clinicians in the form of a questionnaire. Our results show that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good positive indicators, although several patients with a positive cellular diagnosis did not have these features.
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PMID:Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. 769 50


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