ABSTRACT
Bourneville's tuberous sclerosis. Report on two cases. The tuberous sclerosis is a most rare congenital disease belonging to the phacomatoses with a non-predominant neural crest participation. The ophthalmologist's diagnostic does have a real importance because the fundus can show phacomas which are one of the most specific indications of this affection, and therefore it does help for the genetic advice. After the report of two tuberous sclerosis cases showing phacomas, we insist on the ophthalmologic signs and on the principal manifestations of this disease. The main problem to solve will be how to set up the differential diagnostic with a first appearance of a retinoblastoma. Most of the time, the evolution will be a slow increase of the phacomas' number and of their size as well. Sometimes it might be complicated by vitreous hemorrhages which may lead to a vitrectomy. The vital prognostic will be make out according to the general damages.
Subject(s)
Eye Neoplasms/complications , Hamartoma/complications , Tuberous Sclerosis/complications , Adolescent , Child , Diagnosis, Differential , Eye Neoplasms/diagnosis , Female , Hamartoma/diagnosis , Humans , Male , Neoplasms, Multiple Primary , Neurofibromatosis 1/diagnosis , Retinoblastoma/diagnosis , Tuberous Sclerosis/diagnosisABSTRACT
Since January 1986, the authors have examined twenty infant HIV positives. In two cases specially, some serious and precocious ophthalmic lesions have been found : an ophthalmic zona appeared at the age of three months, a cytomegalovirus retinitis diagnosed at the age of six months. From this series, the particularities of the HIV infection by maternal-fetal transmission are discussed.
Subject(s)
Cytomegalovirus Infections/pathology , HIV Seropositivity/transmission , Retinitis/pathology , Child, Preschool , Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/etiology , HIV Seropositivity/complications , HIV Seropositivity/pathology , Humans , Infant , Ophthalmoscopy , Retinitis/diagnosis , Retinitis/etiologyABSTRACT
We studied the case of a young patient affected by a Hermansky-Pudlak syndrome: oculocutaneous albinism of variable intensity with essentially an haemorrhagic diathesis due to a "pool vide" thrombopathy. In beginning the only obvious symptom was a nystagmus and an ocular albinism. Cerebrospinal hemorrhage has up to now never been reported to our knowledge. Healthy carriers can be detected by ophthalmological examination and hematological coagulation tests. Albinos must benefit of systematical coagulation tests in order to prevent drug induced haemorrhagic accident.
