Introduction:

Cockayne syndrome is a genetic multisystem disease of rare frequency, characterized by postnatal growth retardation causing short stature, reduction of the generalized adipose panniculus with premature aging appearance, thin skin that allows appreciating capillary circulation, with photosensitivity lesions, progressive neurological dysfunction with intellectual disability.

Case report:

a male patient with growth arrest since the age of four, decrease of adipose panniculus more accentuated in the extremities, with globular abdomen with hepatomegaly and vascular spiders; very thin skin with multiple hyperpigmented and hypopigmented spots caused by trauma, atrophic and photosensitive lesions, along with thin depigmented and brittle hair. The patient was assessed by a multidisciplinary team, and after several studies, an exhaustive physical dysmorphological examination was conducted, throughout the clinical method that allowed the delineation of the phenotype, achieving the definitive diagnosis.

Conclusions:

it is considered of great value an exhaustive physical examination that allows to correctly delineating the phenotype; without disregarding the importance of a thorough interrogation that facilitates the creation of the genealogical tree that reveals the relationship of all its members. During the study of these low frequency diseases with clinical and genetic heterogeneity, the intervention of a multidisciplinary team is necessary to achieve an accurate clinical diagnosis through the clinical method.

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