This paper concerns two boys of 10 and 6 years old, only children, first cousins, the parents of one of the boys being blood-relations. The two families come from the same town in Sicily. The family background reveals only the birth of a stillborn sister in one of the two cases. The clinical features are: multiple ocular abnormalities: microphthalmos, congenital cataract, retinal pigmentary abnormality, enophthalmos, esotropia; spastic diplegia: the boys cannot maintain an erect position and cannot walk; severe mental retardation; head circumference and statural development below the norm but sufficiently harmonic; cryptorchism. Blood tests for congenital and metabolic diseases were negative: the karyotype was normal. This syndrome has no features of an evolutive illness. It seems difficult to find clinical observations in literature which are similar to our own. In an attempt to make a diagnosis, other congenital oculo-cerebral syndromes already described by other authors were taken into consideration. The presence of the same clinical picture in two boys, first cousins, would seem to indicate a difficulty to define genetic transmission.
|Translated title of the contribution||Microphthalmos, cataract, retinal pigmentary abnormality, spastic cerebral palsy, mental retardation and epilepsy: An oculo-cerebral syndrome|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 1984|
ASJC Scopus subject areas
- Clinical Neurology