Armstrong D D, Dunn J K, Schultz R J, Herbert D A, Glaze D G, Motil K J
Baylor Rett Center and Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.
Pediatr Neurol. 1999 Feb;20(2):125-9. doi: 10.1016/s0887-8994(98)00124-6.
Rett syndrome is a disorder of unknown etiology in females that manifests as severe mental and motor retardation during the first years of life. A postnatal pattern of altered growth is its earliest clinical expression. Head growth decelerates during the first year of age and is followed by a decline in somatic (height/weight) growth. The decreased occipitofrontal circumference (OFC) is reflected in decreased brain size, and measurements of the dendrites of cortical neurons suggest that a developmental and growth arrest have occurred. To further document growth in Rett syndrome, measurements of organ weights, as recorded in 39 postmortem examination studies were compared with normal organ weights for females of comparable age and height. These organ weights suggest that the pattern of growth failure in Rett syndrome, as compared with other forms of mental handicap, such as Down syndrome and Turner's syndrome, may be unique. In Rett syndrome the rate of brain growth, as derived from OFC, decelerates after birth. The increment in normal brain weight after 4 years of age, the age of the first postmortem examinations, is not observed in the Rett brain. The heart, kidneys, liver, and spleen grow at the normally defined rate until 8-12 years of age, when their growth rate decelerates, but their growth continues achieving organ weights that are appropriate for the height of the female. Adrenal weights are normal. These observations suggest that despite a generalized decreased growth in Rett syndrome the brain may be preferentially affected in this syndrome.
雷特综合征是一种病因不明的女性疾病，在生命的最初几年表现为严重的智力和运动发育迟缓。出生后生长模式的改变是其最早的临床症状。头围在1岁时开始减速生长，随后身体（身高/体重）生长也下降。枕额周长（OFC）的减小反映在脑容量的减小上，对皮质神经元树突的测量表明已经发生了发育和生长停滞。为了进一步记录雷特综合征患者的生长情况，将39项尸检研究记录的器官重量测量值与年龄和身高相仿的女性正常器官重量进行了比较。这些器官重量表明，与唐氏综合征和特纳综合征等其他形式的智力障碍相比，雷特综合征的生长失败模式可能是独特的。在雷特综合征中，由枕额周长得出的脑生长速率在出生后会减慢。在首次尸检的年龄（4岁）之后正常脑重量的增加在雷特综合征患者的大脑中未观察到。心脏、肾脏、肝脏和脾脏以正常确定的速率生长，直到8 - 12岁时生长速率减慢，但它们的生长仍在继续，达到与女性身高相适应的器官重量。肾上腺重量正常。这些观察结果表明，尽管雷特综合征患者普遍生长减缓，但大脑在该综合征中可能受到优先影响。
