ABSTRACT
The observation of a 19-year-old patient with blue sclera, hypoacusis and osteofragility (with 13 previous fractures) is presented. In the same family there are other members belonging three generation, with manifestations specific to Lobstein osteopsathyrosis. In the case presented, the heredity was of dominant autosomal type with variable expressivity.
Subject(s)
Osteogenesis Imperfecta/diagnosis , Adult , Female , Fractures, Spontaneous/diagnosis , Fractures, Spontaneous/genetics , Genes, Dominant , Hearing Disorders/diagnosis , Hearing Disorders/genetics , Humans , Osteogenesis Imperfecta/genetics , Sclera/abnormalitiesABSTRACT
The observation of a 17-year-old teenager with progeria, ventricular septal shortcoming with wide anterolateral [correction of arteriolateral] myocardial ischemia. From an ocular point of view, he shows senescence with senile ectropion, evolutive cataract, retinal angiosclerosis. The role of the manifestation of ocular senescence in Hutchinson-Gilford Syndrome is emphasized.
Subject(s)
Cataract/diagnosis , Ectropion/diagnosis , Progeria/diagnosis , Retinal Vessels/pathology , Adolescent , Heart Septal Defects, Ventricular/diagnosis , Humans , Male , Myocardial Ischemia/diagnosis , Prostatic Hyperplasia/diagnosis , Retinal Diseases/diagnosis , Sclerosis/diagnosisABSTRACT
The exam of 33 children with AIDS revealed in 10 cases manifestations of the anterior pole and of ocular anexes specific to this infection. In 8 cases we noticed seborrheic dermatitis, exudative dermatitis. Molluscum contagiosum, staphilococies, papoulous eruptions . In 3 cases there were herpetic infections, one of them was corneal localized. In one case was Burkitt lymphoma with palpebral exteriorization. The fundus exam revealed retinal microvasculopathies with aneurysmal dilatations in cases and retinal hemorrhages in 3 cases. The discrete found in 8 cases, in 2 cases was bilateral papillary and papilloretinal edema was papillary stasis. In 8 cases was partial optical atrophia and in one case we noticed tapetoretinal degenerescente. The aid of the ophthalmologist in the thorough examination of children having AIDS was important, in spite of the unspecific nature of the noticed lesions.
