Paprocka Justyna, Jamroz Ewa, Szwed-Białozyt Barbara, Jezela-Stanek Aleksandra, Kopyta Ilona, Marszał Elzbieta
Child Neurology Department, Medical University of Silesia, Katowice, Poland.
Neurologist. 2007 Sep;13(5):305-12. doi: 10.1097/01.nrl.0000253067.32759.aa.
Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.
The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 years) with confirmed Angelman syndrome. The patients complied with the international consensus criteria for AS and were consecutively investigated for psychomotor development, epilepsy, and electroencephalogram (EEG) profiles.
The median age at diagnosis was 3.9 years. The motor milestones were delayed. Median developmental quotient level was 26. All patients but 1 experienced predominantly polymorphic seizures. In 4 cases, the epilepsy was refractory to treatment. The EEG of all patients displayed an abnormal sleep pattern and generalized abnormalities, with a maximum over the posterior areas.
Milder or less typical phenotypes of AS may remain undiagnosed, leading to an overall underdiagnosis of the disease. The EEG shows no clear relation to genotype, clinical picture, or to the presence and severity of epilepsy. AS should be considered in the differential diagnosis of children with severe cryptogenic epilepsy and a characteristic configuration of clinical features.
天使综合征（AS）的特征为严重智力发育迟缓、癫痫、无语言能力、面部畸形特征以及独特的行为表型。它是由母源15号染色体q11 - q13基因表达缺失所致。
作者呈现了9例确诊为天使综合征患儿（中位年龄4.9岁；范围1至10岁）的临床表现。这些患者符合AS的国际共识标准，并对其精神运动发育、癫痫及脑电图（EEG）特征进行了连续研究。
诊断时的中位年龄为3.9岁。运动发育里程碑延迟。发育商水平中位数为26。除1例患者外，所有患者主要经历多形性发作。4例患者的癫痫对治疗难治。所有患者的脑电图均显示睡眠模式异常和广泛性异常，以枕区最为明显。
AS较轻或不太典型的表型可能仍未被诊断出来，导致该病总体诊断不足。脑电图与基因型、临床表现或癫痫的存在及严重程度无明显关联。对于患有严重隐源性癫痫且具有特征性临床特征组合的儿童，鉴别诊断时应考虑AS。
