Diagnostic approach of angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder. It is caused by a variety of genetic mechanisms which all interfere with expression of the UBE3A gene on chromosome 15q11-13.

OBJECTIVES: To present our experience regarding diagnosis of children with Angelman syndrome.

MATERIAL AND METHODS: 15 children were clinically and genetically diagnosed with AS in the Department of Pediatric Neurology of the "Prof. Dr. Alex. Obregia" Clinical Hospital. In all cases, diagnosis of AS was made by the clinical criteria. The clinical evaluation focused on the patient history, a general examination, dysmorphological evaluation, a neurological examination, psychological evaluation, and paraclinical tests.

RESULTS: All patients from this study presented the characteristic facial features and the characteristic behavior phenotype. Psychomotor development was delayed in all children, most of cases (73%) presenting with sever mental retardation. Epileptic seizures were observed in all patients with microdeletion, the partial seizures being the most frequent type. EEG in all children showed the characteristic pattern for AS.

CONCLUSIONS: Angelman syndrome is a rare and severe neurodevelopmental disorder, with a complex clinical picture. There are some characteristic facial features, which, in association with hypopigmentation, happy disposition, jerky movements, and ataxia in a child with psychomotor delay should raise the strong suspicion of AS.