Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

脑脊液置换对脑室内出血术后脑积水的影响

目的探讨脑脊液置换对脑室内出血术后并发脑积水的影响。方法41例脑出血病例术前头颅CT检查均有不同程度急性脑积水，采用手术清除血肿，脑室外引流或置管尿激酶冲洗引流。术后给予脑脊液置换治疗，CT观察脑积水缓解情况，随访一年了解迟发性脑积水的发生。结果41例病人中，37例脑积水明显缓解，4例脑积水缓解不明显。4例中3例因脑压高仅行2次脑脊液置换治疗，1例做3次后放弃。27例随访，其中20例随访一年，无迟发性脑积水发生，4例因其它疾病死亡，3例失访。结论脑脊液置换术可减少脑室内出血术后并发脑积水的发生。     

Diagnosis and treatment of a newborn with homozygous protein C deficiency

The case is reported of a seriously affected newborn with homozygous protein C deficiency who developed neonatal purpura fulminans. Foetal ultrasound at 33 wk of gestation revealed ventriculomegaly. The first lesions appeared on the scalp 48 h after birth. She was initially treated with fresh-frozen plasma and, after the diagnosis was confirmed, with purified protein C concentrate. After skin necrosis had healed, therapy was continued with oral warfarin. The infant was homozygous for protein C W380G mutation. Diagnosis at the DNA level gave the parents an option of reliable prenatal diagnosis in their subsequent pregnancy. CONCLUSION: Difficulties in reaching an accurate diagnosis are discussed since early diagnosis and urgent therapy with protein C replacement are crucial to avoid further damage after delivery.     

脑室镜引导下脑室—腹腔分流术临床应用

目的探讨脑室镜引导下脑室腹腔分流术临床应用效果。方法选择52例脑积水患者,随机分为两组。实验组在脑室镜引导下行脑室-腹腔分流术;对照组常规行侧脑室-腹腔分流术。对两组的主要术后并发症:术后感染、分流管堵塞、脑室损伤的发生率进行比较,并进行统计学分析,P<0.05差异有显著性。结果实验组术后感染1例,分流管堵塞1例,无脑室损伤病例;对照组术后感染3例,分流管堵塞5例,脑室损伤1例。结论脑室镜辅助下脑室—腹腔分流术在减少分流管堵塞的发生率上有明显优势,相比较传统方法而言,并发症少,术后疗效更佳。     

早期腰大池脑脊液外引流术治疗外伤性蛛网膜下腔出血临床观察

目的探讨早期腰大池脑脊液持续外引流对外伤性蛛网膜下腔出血的治疗效果。方法本组患者195例,利用随机数字表随机分为两组,奇数组为治疗组（110例）,早期行腰大池脑脊液持续外引流;偶数组为对照组（85例）,采用每天腰穿术放脑脊液,通过比较两组临床症状、后遗症及预后来评定疗效。结果统计学结果显示治疗组每日脑脊液引流量显著大于对照组,而脑脊液压力恢复正常时间、脑脊液转清时间、患者意识障碍及头痛持续时间均显著短于对照组。两组近期并发症（颅内感染、硬膜下积液）比较差异无统计学意义,而远期并发症（继发脑积水、癫痫）对照组显著多于治疗组。GOS预后评分治疗组显著优于对照组。结论早期腰大池持续外引流能够尽快缓解临床症状,有效降低脑积水、癫痫等严重并发症的发生率,显著改善预后,是外伤性蛛网膜下腔出血有效的治疗措施。     

Fetal hydrocephaly: Diagnosis, prognosis and management

Ventricle/hemisphere (V/H) ratio and head circumference (HC) measurements were obtained in 230 normal pregnancies between 16 and 28 weeks of gestation. The mean V/H ratio demonstrated a gradual decrease from 0.50 at 16 weeks to 0.26 at 26–28 weeks. HC showed a linear increase from 133 mm at 16 weeks to 268 mm at 28 weeks. In 9 other pregnancies, fetal hydrocephaly was established by routine ultrasound before 26 weeks of gestation. Whereas all V/H ratio values were situated above the upper normal limit, most of the corresponding HC values (6/9) were within the normal range. Severe hydrocephaly (V/H ratio > 3× upper confidence interval) was established in 7 out of 9 fetuses; associated intra or extra cranial structural anomalies were observed in 6 out of 9 fetuses. The implications of these findings for obstetric management of hydrocephaly are discussed.     

脑室-腹腔分流术治疗外伤性脑积水的临床研究

目的探讨脑室-腹腔分流手术治疗脑积水的临床效果和手术风险。方法 40例脑积水患者采取脑室枕角穿刺,腹腔管置入到肝上引流手术治疗。结果 40例患者均成功手术,术后脑积水症状均有不同程度的改善。相关并发症率为20.0%,无死亡病例。结论脑室—腹腔分流手术治疗脑积水,虽然并发症风险较高,但临床效果明显,可作为临床治疗的考虑方案之一。     

脑室镜下脑室-腹腔分流术治疗脑积水体会

目的探讨在脑室镜下行脑室-腹腔分流术治疗脑积水的临床疗效。方法 选择诊断明确的50例脑积水患者并随机分为2组,每组25例,实验组行脑室镜下脑室-腹腔分流术;对照组行常规脑室-腹腔分流术。结果实验组术后感染1例（4%）,分流管阻塞1例（4%）。对照组术后感染3例（12%）,分流管阻塞4例（16%）,脑室损伤1例（4%）。结论脑室镜下行脑室-腹腔分流术治疗脑积水是一项安全可靠的治疗措施,可以在临床上推广应用。     

Meckel-Gruber syndrome

Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys. This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome. Received: 7 September 1996 Revised: 15 January 1997