Bibliographie

We report two patients who were less than two years old that were diagnosed as having Angelman syndrome. Cytogenetic confirmation of the disease was performed. We emphasize clinical and electroencephalographic features in infants that allow an early diagnosis of this syndrome and allow for prompt genetic counseling.

The Angelman syndrome or "happy puppet" syndrome is a disorder of severe mental retardation, seizure, paroxysms of laughter, absent speech, jerky movements and ataxic gait. We present two sibs, man and woman, with this disorder, fact that support the possible autosomal recessive inheritance as a cause of this pathology, which hereditary mechanism is still a controversial point. Besides, we can observe different expression, being the woman more severely affected than the man. To our knowledge, this is the first mexican family reported with this syndrome, and with a ten years follow up. Chromosomal studies, with high resolution technique, were normal, we did not find the 15 chromosomic deletion referred as a possible cause in some cases, that is why it is undeniable that genetic heterogeneity exists in this syndrome.

Angelman's or "happy puppet" syndrome is a disorder of unknown etiology characterized by severe or profound mental retardation with deepest involvement of language, frequent smile and laughter and a happy appearance of every patient. Constant somatic features are microcephaly with braquicephaly, wide face, prognathism, occipital flattening and protruding tongue. Their movements are incoordinated and ataxic, giving them a puppet-like aspect. Electroencephalographic abnormalities are constant and severe but they usually have sporadic epileptic seizures. Only about fifty cases have been reported, affecting both sexes and belonging to different continents and reaces, but authors think the disorder is more frequent. First three patients of Spanish literature are presented and findings of "happy puppet" syndrome are commented.