Hayman M, Harvey A S, Hopkins I J, Kornberg A J, Coleman L T, Shield L K
Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.
Ann Neurol. 1998 Apr;43(4):514-20. doi: 10.1002/ana.410430416.
Paroxysmal tonic upgaze (PTU) of childhood is a distinctive neuro-ophthalmological syndrome of unknown etiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. It is generally regarded as having a benign outcome. We observed 16 children with PTU, from 10 months to 11 years from onset (mean, 5.4 years), to study the natural history and possible etiology. Five cases were from two unrelated families. Onset of PTU occurred either during or after an intercurrent infection or vaccination in 5 children. No antecedent was identifiable in the rest. PTU had completely resolved in 10 children (62%) (mean age at offset, 2.5 years), whereas 2 children intermittently manifest a modified form of the disorder. At follow-up, 11 children (69%) had developmental delay, intellectual disability, or language delay and 9 (56%) had ocular motility problems other than PTU. Only 3 children (19%) had normal development and neurological findings. PTU is a heterogeneous syndrome with respect to associations and outcome and may simply be an age-dependent manifestation of a variety of disorders affecting corticomesencephalic control of vertical eye movement. This disorder may be an early sign of more widespread neurological dysfunction.
儿童阵发性强直性上视（PTU）是一种病因和发病机制不明的独特神经眼科综合征，其特征为双眼持续向上偏斜发作，试图向下注视时常常伴有不完全向下扫视。一般认为其预后良好。我们观察了16例PTU患儿，发病年龄从10个月至11岁（平均5.4岁），以研究其自然病程及可能的病因。其中5例来自两个无亲缘关系的家庭。5名患儿的PTU发病于并发感染或接种疫苗期间或之后。其余患儿未发现前驱事件。10名患儿（62%）的PTU已完全缓解（缓解时平均年龄2.5岁），而2名患儿间歇性表现为该疾病的一种变异形式。随访时，11名患儿（69%）存在发育迟缓、智力障碍或语言发育迟缓，9名患儿（56%）除PTU外还存在眼球运动问题。只有3名患儿（19%）发育及神经学检查结果正常。PTU在关联和预后方面是一种异质性综合征，可能仅仅是影响垂直眼球运动皮质脑桥控制的多种疾病的年龄依赖性表现。这种疾病可能是更广泛神经功能障碍的早期迹象。
