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患儿,男,13岁,生后5个月发现哭闹后口唇及颜面发绀,以后逐渐加重,4岁后安静时口唇、指(趾)末端发绀,5岁后指(趾)末端增粗,平素可行走,但不能跑跳,无蹲踞现象,家中自备氧气袋需间断吸氧,不能上学。患儿系第3胎,第2产,足月顺产,智力发育正常。其兄健康,父母非近亲婚配,母孕30天时发烧,服“正痛片”,3天热退,未出现皮疹。查体:体温37.1℃,脉搏102次/分,呼吸28次/分.BP15/12.5kPa,体重20kg,身高120厘米,一般状况欠佳,衰竭状态.营养发育不良。耳廓,指(趾)重度发绀、臭尖、颜面略发绀,睑结膜充血,呈暗红色,口唇较肥厚,明显发绀,鼻扇(一),三凹症(一)。心前区无隆起,触之无震颤、心左界位于左第5肋间锁骨中线外1cm,心率102次/分,律齐,心音有力,无杂音。肺动脉第2音明显亢进。腹略膨隆,肝、脾肋下未触及,明显杵状指(趾)。(图见封三)辅助检查:B 型超声波检查、肝区、脾区均可见到肝脏回声,肝内光点密集,分布不均匀,失去正常形
Children, male, 13 years old, 5 months after birth found that the lips and face cyanosis after crying, and then gradually increased after 4 years of quiet lips, finger (toe) terminal cyanosis, 5 years after the end of the finger , Usually walking, but can not run jump, no squat phenomenon, home-owned oxygen bags need to intermittent oxygen, can not go to school. Children in the third child, the second birth, full-term birth, normal mental development. His brother healthy, non-relatives of their parents marriage, mother of 30 days fever, serving “orthopedic tablets”, 3 days hot, no rash. Physical examination: body temperature 37.1 ℃, pulse 102 beats / min, breathing 28 beats / min.BP15 / 12.5kPa, weight 20kg, height 120 cm, poor general condition, failure state. Malnutrition dysplasia. Ear, finger (toe) severe cyanosis, smelly hair, face slightly cyanosis, conjunctival hyperemia, dark red, more fat lips, obviously cyanosis, nose fan (a), three concave disease (a). Pre-anterior region without uplift, touch no tremor, heart left boundary located in the left intercostal clavicle midline 1cm, heart rate 102 beats / min, law Qi, heart sound powerful, no noise. Pulmonary artery was significantly higher than the second tone. Abdominal slightly bulging, liver, spleen ribs did not touch, obviously clubbing (toe). (See the seal three) auxiliary examination: B-mode ultrasound examination, liver, spleen area can be seen liver echo, liver light spot intensive, uneven distribution, loss of normal shape