ABSTRACT
Werner's syndrome is a rare inherited disorder characterized by short stature, sclerosed skin, cataract and premature aging of the face. The disease involves multiple systems of the body and some of the abnormalities may cause life threatening complications such as myocardial infarction and malignancy. We report a case of this rare disorder
Subject(s)
Humans , Male , Adult , Werner Syndrome/complications , Werner Syndrome/genetics , Progeria/diagnosis , Cockayne Syndrome/diagnosis , Aging, Premature/diagnosisABSTRACT
La progeria o síndrome de Hutchinson-Gilford es un síndrome poco frecuente. Consiste en la aparición de signos de envejecimiento en niños entre su primer y segundo año de vida. La mayoría de los casos de progeria son esporádicos, lo cual plantea la posibilidad de un patrón de herencia autosómico dominante por mutación de novo. El diagnóstico diferencial de esta entidad debe plantearse con cualquiera de los otros síndromes progeroides descritos en la literatura. Se presenta una revisión actualizada sobre el tema haciendo énfasis en la aproximación diagnóstica del cuadro
Subject(s)
Humans , Child , Chromosome Aberrations , Progeria , Diagnosis, Differential , Life Expectancy , Progeria , Prognosis , Cockayne Syndrome/diagnosis , Werner Syndrome/diagnosisABSTRACT
We report four cases of Cockayne Syndrome in a family of seven children. Apart from the usual clinical and laboratory features, sparse eye lashes and high arched palate in two patients, conjunctival and corneal edema in one, and proximal muscle weakness in one patient were noticed as additional findings.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Cockayne Syndrome/diagnosis , Disease Progression , Female , Follow-Up Studies , Humans , India , Male , PedigreeABSTRACT
A síndrome de Cockayne (CS) é uma desordem autossômica recessiva caracterizada por nanismo, déficit de crescimento, deterioraçäo neurológica, fotossensibilidade e uma progressiva aparência facial característica. Neste artigo relatamos a primeira família brasileira com CS, cujo diagnóstico foi confirmado pela demonstraçäo de uma síntese diminuída de RNA na cultura de fibroblastos expostos à radiaçäo ultravioleta. Apesar do curso progressivo da doença e da inexistência de um tratamento efetivo, o diagnóstico faz-se muito importante, pois a família pode se beneficiar do aconselhamento genético e/ou do diagnóstico pré-natal.
Subject(s)
Humans , Male , Female , Child, Preschool , Adult , RNA , Cockayne Syndrome/diagnosis , Ultraviolet Rays , Brazil , Genetic Diseases, Inborn , Dwarfism/congenital , Photosensitivity Disorders , Cockayne Syndrome/geneticsABSTRACT
Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders. They are characterized by susceptibility to chromosomal breakages, increased frequency of breaks and interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. These diseases are a group of genetic disorders sharing a number of features. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. The principal diseases in this group having a diverse etiology and clinical manifestations include Fanconi anemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), Bloom syndrome (BS), xeroderma pigementosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The underlying defect in these syndromes is the inability to repair a particular type of DNA damage. A number of repair disorder phenotypes are caused by more than one gene. The diagnosis of these syndromes is made by the characteristic clinical features specific to each disease, but the definitive diagnosis is achieved by laboratory investigations such as cytogenetic, biochemical and molecular methods. The importance of prenatal diagnosis and our experience are discussed in this article.
Subject(s)
Ataxia Telangiectasia/diagnosis , Bloom Syndrome/diagnosis , Chromosome Breakage , Cockayne Syndrome/diagnosis , Fanconi Anemia/diagnosis , Humans , Syndrome , Xeroderma Pigmentosum/diagnosisABSTRACT
Apresenta-se um caso de síndrome de Cockayne, definem-se os critérios diagnósticos e identificam-se as complicaçoes desta síndrome. Os critérios para diagnóstico deste quadro sao: crescimento pobre, observado desde a vida intra-uterina, anormalidades neurológicas (desde o nascimento), perda auditiva neurossensorial, catarata (aparecimento nos primeiros 3 anos), anomalias estruturais congênitas do olho, retinopatia pigmentosa, fotossensibilidade cutânea, cáries dentárias, vida média de 12-13 anos (pode chegar aos 20 anos). O largo espectro de sintomas e sua severidade indicam distúrbio bioquímico e genético raro, de herança autossômica recessiva.
Subject(s)
Humans , Female , Child, Preschool , Cockayne Syndrome/diagnosis , Cockayne Syndrome/complicationsSubject(s)
Humans , Male , Female , Infant , Child, Preschool , Adolescent , Adult , Middle Aged , Cockayne Syndrome/genetics , Xeroderma Pigmentosum/genetics , DNA/radiation effects , Genes, p53/genetics , Genetic Techniques , Keratinocytes , Cockayne Syndrome/diagnosis , Xeroderma Pigmentosum/diagnosisABSTRACT
Introducción. Se presentan 6 casos de síndrome de Cockayne provenientes de 2 familias viviendo en una pequeña población donde existe un incremento en el grado de consanguinidad. Presentación de los casos clínicos. Las manifestaciones clínicas propias del síndrome fueron corroboradas en el Hospital para el Niño Poblano en forma multidisciplinaria encontrándose principalmente: alteraciones dermatológicas como sensibilidad a la luz solar y predisposición a cáncer de piel "xeroderma pigmentoso"; endocrinilógicas como talla baja, y apariencia senil; oculares desde cataratas hasta degeneración pigmentaria de la retina; problemas neurológicos con retardo mental leve y grave; pérdida de la audición; así como alteraciones óseas degenerativas de miembros inferiores; superiores y columna vertebral. Conslusiones. Se diagnostican 6 casos de síndrome de Cockayne en 2 familias mexicanas consanguíneas provenientes de una zona con un alto grado de consanguinidad