《儿科学》课程作业习题（典型病例）07 congenital hypothyroidism.doc_大学文库

住院号：599891Patient ID: 599891主要诊断：先天性甲状腺功能减低症。Primary diagnosis: Congenital Hypothyroidisn（一）病史摘要History summary1、患儿，男，6岁7月，主诉：四肢无力6+年，发现生长发育迟缓5+年，身高不增2+年1、Patient, male, 6 years and 7monthes old . Chief complaints: Limb weakness for 6+ years,growth retardation for 5+ years, no increase in height for 2+ years2、起病隐匿，病程长2.Occultonset and long lasting condition3、患儿家长发现患儿生后皮肤苍黄，四肢无力，腹部膨隆，脐部包块，家长自觉哭声大，无巩膜黄染，平时安静、少动、少哭，吃奶无力，2-3天排大便1次。入院前5年发现患儿身高较同龄儿矮，说话和走路亦较同龄儿延迟，至今不能行走及说话，反应迟钝，食欲差。未给予特殊处理，入院前2年，发现患儿身高不增伴颜面和下肢浮肿，曾补钙治疗半年（口服葡萄糖酸钙等），无好转，为进一步诊治，遂来我院，门诊以“甲状腺功能低下？"收入院3. Parents ofthe patient found that the boy had geenish yellow skin after birth and also had limbweakness, a belly bulge and umbilical lumps, without jaundice. He was also quiet had litleenergy and weak sucking during feeding. The patient had bowel movements every two to threedavind to be shnd was behind nornsiohondevelopment inbothspeechandwalkingUnabletowalkandtalkyet,heisalwaysunresponsivand has a poor appetite. The patient had not been given any specialist treatment.Two years ago, before he went to hospital, the patient was found to have no increase in heightand also had a swollen face and legsThe symptoms were not relieved after beinggiven calciumheefoehcamChoningchilden'shpialfofurthtreatmenhospitalized as hypothyroidisrreat4、父母身体状况良好，非近亲婚配，无甲状腺疾病家族史，居住区服碘盐。患儿G3P3，孕41周，自然分娩，出生时体重5.0kg，身长不详，无苍白室息。患儿生长发育迟缓，至今未站立行走，1岁可逗笑，5岁能说单字，现不能进行日常交流，未入幼儿园，活动量差。现有牙齿21颗arents of the patient are in a good health condition, there is no evic4Dence of genetic inbreedingand there is nofamily history ofthyroid disease.The patient comesfrom an area which consumeshigh levels of iodized salt. The patient was G3P3, 41 weeks of pregnancy, natural birth and hisbirth weight was 5kg but his length was unknown,norecord of perinatal asphyxiaThe boy hasorowth retardation: he still cannot stand and walk. He could laugh when he was at the age of1year old and could say single words at the age of 5 years old, however is still unable tomake dailyothers.The patier not been to nursery yet and continues to displaypoor level of energy. He has grown 21 teeth so far5、体格检查：体温37.0C，呼吸20次/分，心率81次/分，血压83/53mmHg，体重14.0kg，头围52.0cm，腹围最大57.0cm，过脐腹围53.0cm，身长81.0cm，坐高54.8cm，上部量/部量2.09，神志呆滞，反应迟钝，面色苍黄，贫血貌，全身皮肤粗糙、干燥、脱屑，头大

住院号：599891 Patient ID: 599891 主要诊断：先天性甲状腺功能减低症。 Primary diagnosis: Congenital Hypothyroidism （一）病史摘要 History summary: 1、患儿，男，6 岁 7 月，主诉：四肢无力 6+年，发现生长发育迟缓 5+年，身高不增 2+年。 1、Patient, male, 6 years and 7monthes old . Chief complaints: Limb weakness for 6+ years, growth retardation for 5+ years, no increase in height for 2+ years. 2、起病隐匿，病程长。 2. Occult onset and long lasting condition. 3、患儿家长发现患儿生后皮肤苍黄，四肢无力，腹部膨隆，脐部包块，家长自觉哭声大，无巩膜黄染，平时安静、少动、少哭，吃奶无力，2-3 天排大便 1 次。入院前 5 年发现患儿身高较同龄儿矮，说话和走路亦较同龄儿延迟，至今不能行走及说话，反应迟钝，食欲差。未给予特殊处理，入院前 2 年，发现患儿身高不增伴颜面和下肢浮肿，曾补钙治疗半年（口服葡萄糖酸钙等），无好转，为进一步诊治，遂来我院，门诊以“甲状腺功能低下？”收入院。 3. Parents of the patient found that the boy had greenish yellow skin after birth and also had limb weakness, a belly bulge and umbilical lumps, without jaundice. He was also quiet, had little energy and weak sucking during feeding. The patient had bowel movements every two to three days. Five years ago, the boy was found to be shorter than average in height and was behind normal development in both speech and walking. Unable to walk and talk yet，he is always unresponsive and has a poor appetite. The patient had not been given any specialist treatment. Two years ago, before he went to hospital, the patient was found to have no increase in height and also had a swollen face and legs. The symptoms were not relieved after being given calcium treatment for half a year. Therefore, he came to Chongqing children’s hospital for further treatment and was hospitalized as hypothyroidism. 4、父母身体状况良好，非近亲婚配，无甲状腺疾病家族史，居住区服碘盐。患儿 G3P3，孕 41 周，自然分娩，出生时体重 5.0kg，身长不详，无苍白窒息。患儿生长发育迟缓，至今未站立行走，1 岁可逗笑，5 岁能说单字，现不能进行日常交流，未入幼儿园，活动量差。现有牙齿 21 颗. 4. Parents of the patient are in a good health condition, there is no evidence of genetic inbreeding and there is no family history of thyroid disease. The patient comes from an area which consumes high levels of iodized salt. The patient was G3P3, 41 weeks of pregnancy, natural birth and his birth weight was 5kg but his length was unknown, no record of perinatal asphyxia. The boy has growth retardation; he still cannot stand and walk. He could laugh when he was at the age of 1 year old and could say single words at the age of 5 years old, however is still unable to make daily communication with others. The patient has not been to nursery yet and continues to display a poor level of energy. He has grown 21 teeth so far. 5、体格检查：体温 37.0°C，呼吸 20 次/分，心率 81 次/分，血压 83/53mmHg,体重 14.0kg，头围 52.0cm，腹围最大 57.0cm，过脐腹围 53.0cm，身长 81.0cm，坐高 54.8cm，上部量/下部量 2.09，神志呆滞，反应迟钝，面色苍黄，贫血貌，全身皮肤粗糙、干燥、脱屑，头大

（3）轻度贫血2.治疗：（1）给予优甲乐替代治疗：原则：从小剂量开始逐渐增加剂量至T4正常（2）安乐士驱虫（3）口服右旋糖苷铁补铁治疗3天后，患儿精神开始明显好转，活动量及食欲增加。查体：体温36.2，呼吸22次/分，心率95次/分，神志清楚，反应仍迟钝，面色稍苍黄，颜面皮肤光洁，驱干皮肤稍粗糙，双肺呼吸音清，心音稍低钝，律齐，腹软稍膨隆，脐疝，肢端暖。患儿无甲状腺功能亢进表现，故加大甲状腺素剂量，尽快让T4水平恢复正常。甲状腺功能恢复正常即可带药出院。Theprocess of Diagnosis and treatment:1.Diagnosis(1) Congenital Hypothyroidism(2) Intestinal ascariasis(3) Mild anemia2.Treatment(1) Replacement therapy of Levothyroxine Sodium Tablets. Treatment principles: Start at smallthe dose until thelevel ofT4 becomes normaldoseand gradually(2) Deworming by Pentelmin(3) Taking Iron supplements by Iron Dextran Oral SolutionAfter 3 days treatment the patient's condition has improved, he has become more active anded. Physical Examination: T 36.2℃, R 22 b/m, P 95 b/m, Conscious burhis appetstill slow. Stillyellowskin.TThe facial skin has bnootherandbrightwhilstthe body skin is stilrough The breath sounds clear in both lungs The heart sound is a litle low,while the rhythm is regular. The abdomen has bulges but is soft with umbilical hernia and warmextremitiesThe boy has no hyperthyroidism symptoms therefore the dosage of thyroxine should beto help the T4 levels become normal as soon as possible. The patient can leavencreasedinordhospital with medication once his thyroidfunction recovers tothe normal level.（三）疾病转归：1、患儿就诊时间晚，其智力落后不能恢复；生长发育可以有很大程度追赶；特殊面容可以消失2、需要终身用甲状腺素替代治疗，不能中断。3、随访内容：出院后门诊内分泌专科长期随访甲状腺功能，生长发育等情况，4、随访时间：治疗开始时候每2周随访1次，血清TSH和T4正常后，每3月随访1次，服药1-2年后，每6月随访1次。Disease outcome1.The patient's treatment has been delayed and therefore his mental retardation is rreversibleThesaracteristics willdisappearroelop2.The thyroxine treatment cannot be stopped and will be used for life3. Follow-up content: long tem follow up examination should be caried out on the thyroidfunction and the development conditions etc after discharge4. Follow-up time: at the beginning the patient should have a check up every 2 wecks until the

（3）轻度贫血 2.治疗：（1）给予优甲乐替代治疗：原则：从小剂量开始逐渐增加剂量至 T4 正常（2）安乐士驱虫（3）口服右旋糖苷铁补铁治疗 3 天后，患儿精神开始明显好转，活动量及食欲增加。查体：体温 36.2°，呼吸 22 次/分，心率 95 次/分，神志清楚，反应仍迟钝，面色稍苍黄，颜面皮肤光洁，躯干皮肤稍粗糙，双肺呼吸音清，心音稍低钝，律齐，腹软稍膨隆，脐疝，肢端暖。患儿无甲状腺功能亢进表现，故加大甲状腺素剂量，尽快让 T4 水平恢复正常。甲状腺功能恢复正常即可带药出院。 The process of Diagnosis and treatment: 1.Diagnosis: (1) Congenital Hypothyroidism (2) Intestinal ascariasis (3) Mild anemia 2. Treatment: (1) Replacement therapy of Levothyroxine Sodium Tablets. Treatment principles：Start at small dose and gradually increase the dose until the level of T4 becomes normal. (2) Deworming by Pentelmin (3) Taking Iron supplements by Iron Dextran Oral Solution. After 3 days treatment the patient’s condition has improved, he has become more active and his appetite has increased. Physical Examination: T 36.2℃, R 22 b/m, P 95 b/m, Conscious but still slow. Still has greenish yellow skin. The facial skin has become smoother and bright whilst the body skin is still rough. The breath sounds clear in both lungs. The heart sound is a little low, while the rhythm is regular. The abdomen has bulges but is soft with umbilical hernia and warm extremities. The boy has no hyperthyroidism symptoms; therefore the dosage of thyroxine should be increased in order to help the T4 levels become normal as soon as possible. The patient can leave hospital with medication once his thyroid function recovers to the normal level. （三）疾病转归： 1、患儿就诊时间晚，其智力落后不能恢复；生长发育可以有很大程度追赶；特殊面容可以消失。 2、需要终身用甲状腺素替代治疗，不能中断。 3、随访内容：出院后门诊内分泌专科长期随访甲状腺功能，生长发育等情况。 4、随访时间：治疗开始时候每 2 周随访 1 次，血清 TSH 和 T4 正常后，每 3 月随访 1 次，服药 1-2 年后，每 6 月随访 1 次。 Disease outcome 1. The patient’s treatment has been delayed and therefore his mental retardation is Irreversible. The growth development can be improved and the abnormal facial characteristics will disappear. 2. The thyroxine treatment cannot be stopped and will be used for life. 3. Follow-up content: long term follow up examination should be carried out on the thyroid function and the development conditions etc after discharge. 4. Follow-up time: at the beginning, the patient should have a check up every 2 weeks until the