Sporadic congenital infantile cortical hyperostosis (Caffey's disease)

Prognosis of congenital infantile cortical hyperostosis (Caffey's disease) is poor particularly in premature babies. Two cases are presented of congenital Caffey's disease in premature babies. The first baby was hydropic at birth and had cortical hyperostosis involving the mandible and long bones of right upper limb and both lower limbs. The second baby had cortical hyperostosis of the nasal bones causing severe nasal nonchoanal stenosis that needed surgery, in addition to involvement of long bones of the four extremities. Both babies recovered from the disease and were discharged home well. These cases suggest that the improved outcome of congenital of infantile cortical hyperostosis may reflect improvement of neonatal mechanical ventilation and availability of neonatal total parenteral nutrition.     

Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case

We report a fetus from a pregnancy that was terminated at 26 weeks gestation for hydrops and short limb skeletal dysplasia. The parents were first cousins. Post mortem examination showed pulmonary hypoplasia and hepatomegaly. The radiographs showed shortening and cortical thickening of all long bones. The cortical thickening was most marked in the long bones, ribs, clavicles and scapulae but spared the skull vault, facial bones and pelvis. There were coronal clefts in the lower lumbar vertebrae. The clinical and radiological features of this fetus conform to those reported in a stillborn male by Kozlowski and Tsuruta in 1989 (Br J Radiol 62:376-378). This is the second reported case of this condition and confirms that it is a distinct and recognisable, lethal skeletal dysplasia. The parental consanguinity in our patient suggests that this condition may be inherited in an autosomal recessive manner.     

Prenatal diagnosis of Huntington's disease (HD): experiences with six cases and PCR.

In the course of a 2-year predictive testing programme for Huntington's disease (HD), six couples from a total of 52 applicants requested prenatal testing. In each case, the pregnancy was in the first or second trimester when the couples were referred for DNA diagnosis. In five cases, exclusion testing was offered; in one case, a person at risk with an increased risk of being a gene carrier requested prenatal diagnosis. In all cases, informative markers for prenatal testing could be determined. Whenever possible, the newer technique of polymerase chain reaction (PCR) for D4S125 was applied to perform rapid prenatal diagnosis. Two couples withdrew before chorionic villus sampling was undertaken; prenatal diagnosis was completed in the remaining four cases. After exclusion testing, two pregnancies were determined to have an increased risk and two fetuses to have a low risk of being HD gene carriers.     

Severe vaginal chronic graft-versus-host disease (GVHD): two cases with late onset and literature review

Female genital graft-versus-host disease (GVHD) occurs after allogenic stem cell transplantation (SCT) in 25% of long-term survivors. To date, 28 severe cases with hematocolpos requiring surgery have been documented. We report two cases of severe gynecological GVHD. Although most of the vaginal GVH disease cases occurred within two years after oncologic treatment, our two cases highlight the possibility of a very long onset. We also confirmed that hormonal replacement therapy does not protect against synechia and that corticoid treatment has a good therapeutic value in recurrence after surgery. In conclusion, women with SCT experience a high risk of vaginal GVHD that could impair quality of life and sexual function. These cases pinpointed the importance of very long-term gynecological follow-up in order to diagnose early symptoms. To date, only early therapy with local corticoid application might reduce symptoms and development of severe genital GVHD. We support systematic use of topical corticoid therapy in severe cases even after surgery because of the high incidence of recurrence.     

Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia.

The Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) is a rare, usually lethal condition involving short limbs and occasional hydrocephalus. Presented is a case in which prenatal sonographic findings were highly suggestive of this syndrome, although not definite. In this fetus, findings of hydrocephalus, short limbs, and probable pulmonary hypoplasia changed the intrapartum management. The findings, correlated with the postmortem radiography, led to diagnosis of probable Roberts-SC syndrome.     

Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.

We present 16 cases, 10 de novo and 6 familial, in which extra structurally abnormal chromosomes (ESACs) were diagnosed prenatally and identified by fluorescence in situ hybridization (FISH) studies with follow up from birth. We review the literature on prenatally diagnosed ESACs arising de novo and suggest a management protocol for these cases.     

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (Sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family

We present two siblings from a consanguineous Malaysian family with multiple skeletal abnormalities, anterior segment anomalies of the eye and early lethality. These features are consistent with a syndrome first described by Al-Gazali and we provide further delineation of the syndrome.     

Cabergoline reduces the early onset of ovarian hyperstimulation syndrome: a prospective randomized study

Prophylactic use of cabergoline has been associated with a decrease in the severity of ovarian hyperstimulation syndrome (OHSS). A prospective randomized study was designed to evaluate the potential of cabergoline to decrease the incidence of OHSS in high-risk patients undergoing assisted reproductive technology treatment; 166 patients with oestradiol concentrations over 4000 pg/ml on the day of human chorionic gonadotrophin (HCG) administration were evaluated. They all received 20 g routine preventive intravenous human albumin on the day of oocyte retrieval. They were then randomized into two groups: group A (n = 83) received 0.5 mg oral cabergoline per day for 3 weeks beginning on the day after oocyte retrieval, and group B (n = 83) received no medication. ‘Early’ OHSS was defined as being when the onset of the syndrome was initiated during the first 9 days after HCG administration, and ‘late’ OHSS was defined as being when the onset of the syndrome was initiated from 10 days after HCG administration. In group A, no patients progressed to ‘early’ OHSS and nine patients (10.8%) developed ‘late’ OHSS; in group B, 12 patients (15.0%) progressed to ‘early’ OHSS and three (3.8%) to ‘late’ OHSS. Although the risk of ‘early’ OHSS decreased significantly (P < 0.001), the risk of ‘late’ onset OHSS did not. The two groups presented no changes in pregnancy, implantation or miscarriages rates.     

Inhaled nitric oxide for oligohydramnios-induced pulmonary hypoplasia: a report of two cases and review of the literature.

We describe the clinical courses of two premature infants, a male born at 29(4/7) weeks' gestational age after an 8-week period of rupture of membranes (ROM) and severe oligohydramnios, and a female infant born at 31 weeks' gestational age after an 18-week period of ROM and severe oligohydramnios. Within hours after birth, despite intubation and aggressive ventilation, both infants developed fulminant hypoxic respiratory failure. Their clinical courses were consistent with pulmonary hypertension and both infants were transferred for trials of inhaled nitric oxide (iNO). Both infants had dramatic responses to iNO, suggesting that the pulmonary disease seen after prolonged oligohydramnios may have a component of nitric oxide-sensitive pulmonary hypertension. The goals of this article are to (1) review oligohydramnios-induced pulmonary hypoplasia, (2) discuss patients at highest mortality risk, and (3) describe the effects of iNO on pulmonary hypertension in infants with hypoxemia following prolonged ROM and severe oligohydramnios.     

Prenatal diagnosis of del(9)(p24): a sex reverse case

BACKGROUND: We report on a fetus with sex reversal and del(9)(p24) consequent to a malsegregation of a maternal balanced complex translocation involving chromosomes 7, 9 and 11. METHODS: Fluorescence in situ hybridization (FISH) was performed in order to verify the presence of the SRY gene and the absence of DMRT1 and DMRT2 genes located in 9p24.3 region and frequently associated with sex reversal. RESULTS AND CONCLUSIONS: The prenatal karyotype revealed an unbalanced male fetus. The postmortem examination showed a malformed fetus with female external genitalia. Lack of DMRT1-2 genes established by FISH.     

早发型子痫前期-子痫抗凝疗效多中心临床研究

目的探讨丹参、低分子肝素等抗凝药物治疗早发型子痫前期-子痫的有效性和安全性。方法将2008年11月至2010年3月全国21所医院572例早发型子痫前期-子痫患者随机分4组,对照组(1组,仅用硫酸镁)、硫酸镁+丹参组(2组)、硫酸镁+低分子肝素组(3组)、硫酸镁+低分子肝素+丹参组(4组)。收集患者一般情况、治疗及分娩资料,监测并比较治疗前后24h尿蛋白、出凝血指标、血常规、超声及不良反应等指标。结果 (1)接受抗凝治疗患者治疗时间较对照组显著延长(P<0.05)。(2)第3组凝血酶时间(TT)值延长较其他组明显;第3、4组血小板和红细胞压积(HCT)下降显著,但组间差异无统计学意义。(3)第3、4组分别有11例和6例因不良反应而停药。结论单独或联合应用丹参或低分子肝素治疗早发型子痫前期-子痫可延长其孕周,有改善血液浓缩状态趋势,低分子肝素可缓解患者高凝状态,但要注意血小板减少倾向。     

Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.

Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.     

Paget disease of the vulva: a study of 56 cases

Objective

To resolve controversial issues regarding vulvar Paget disease through analysis of a substantial number of cases.

Study design

The medical records and pathology slides of 56 patients with a diagnosis of vulvar Paget disease were reviewed. Possible correlation between clinical and pathological data was examined.

Results

Most patients were Caucasian and their mean age at diagnosis was 69 years. The average length of follow-up was 5.6 years. The most common symptom was pruritus, almost always accompanied by erythematous-white plaques. Substantial delay between appearance of symptoms and diagnosis was observed in many patients, and was significantly associated with larger lesions. Recurrence rate after surgical management was 32%, with disease involving the perineum being the only statistically significant risk factor. Patients with positive surgical margins had an increased recurrence rate, but this was not statistically significant. Intra-operative frozen section analysis of the margins as well as radical surgery as initial treatment did not reduce recurrence rate. In general, stromal invasion was not associated with worse prognosis, but the single patient who died of disease had the deepest stromal invasion. Radiation therapy given to five patients who either had multiple positive surgical margins or experienced disease recurrence and refused additional surgery resulted in complete response with no further recurrences. On the last day of follow-up 24 patients (43%) had no evidence of disease, 24 patients (43%) were dead of other causes, 5 patients (9%) were alive with disease, 2 patients (3%) were lost to follow-up, and 1 (2%) died due to vulvar Paget disease with invasive adenocarcinoma.

Conclusions

Vulvar Paget disease only rarely results in a patient's death, but long term follow-up is required, as recurrences are common and can be noted many years after the initial treatment.     

Prenatal sonographic diagnosis of an oropharyngeal teratoma (epignathus) on a stillborn infant: a case report

Oropharyngeal teratomas are rare congenital malformations that arise from all three basic germinal layers and form a high risk situation for the neonate. Their incidence is only sporadic and they are not associated with a high recurrence risk, although some cases of associated chromosomal aberrations have been described. In this case report we present the clinical course and the histopathological findings of a prenatal diagnosed stillborn infant with an oropharyngeal teratoma of the left maxilla by a 33-year-old primigravida woman at 40 weeks 5 days' gestation. Moreover we emphasize on the relevance of the prenatal diagnosis and visualisation of such fetal tumors not only because of their great importance on the obstetrical management but also for their critical contribution to the optimal treatment of the affected newborn.