1/130. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction.We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/130. prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus.Severe type I plasminogen deficiency may cause severe ligneous conjunctivitis, a rare and unusual form of chronic pseudo-membranous conjunctivitis that usually starts in early infancy, but also pseudo-membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea and female genital tract, and in rare cases congenital occlusive hydrocephalus. The index patient, the daughter of a consanguineous marriage, had suffered from severe ligneous conjunctivitis and had died from decompensated congenital hydrocephalus despite numerous shunt revisions. She was found to be homozygous for a non-sense mutation in exon 15 of the plasminogen gene (Trp597->Stop). In her next pregnancy, the mother asked for prenatal diagnosis of the plasminogen deficiency. Chorionic villus biopsy was performed at 12 weeks of gestation. dna analysis of the plasminogen gene by PCR and single-strand conformation polymorphism (SSCP) revealed that the fetus exhibited an identical heterozygous band pattern as observed in the healthy mother. Therefore, the fetus was heterozygous for the Trp597->Stop mutation in plasminogen exon 15. In addition, the fetus was found to be male by cytogenetic analysis and by multiplex PCR analysis using two polymorphic X-chromosomal markers (DXS424, HPRT). These findings excluded the possibility of contamination by maternal dna. It was concluded that the fetus was not at risk for ligneous conjunctivitis and its associated complications. After the birth of a healthy boy, plasminogen functional activity was shown to be 38 per cent. dna analysis confirmed prenatal molecular genetic results.- - - - - - - - - - ranking = 1.4297395381413keywords = gestation, pregnancy (Clic here for more details about this article) |
3/130. Prenatal sonographic imaging of an immature intracranial teratoma.This article describes the prenatal sonographic diagnosis of a rare case of intracranial immature teratoma in a fetus at the 35th week of gestation which looked normal at previous examinations. At sonography a markedly enlarged fetal head containing a complex irregular mass and hydrocephalus was detected. color Doppler examination of the mass showed intense vascularization with low resistance flows.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
4/130. Fetal hydrocephalus secondary to intraventricular hemorrhage diagnosed by ultrasonography and in utero fast magnetic resonance imaging. A case report.Although fetal hydrocephalus is commonly detected by prenatal ultrasonographic examination, posthemorrhagic hydrocephalus has rarely been observed in the fetus. We report a case of hydrocephalus secondary to intraventricular hemorrhage (IVH) diagnosed by in utero magnetic resonance imaging (MRI) at 37 1 weeks of gestation. ultrasonography revealed enlargement of the bilateral ventricles and an irregular mass measuring 20 x 12 x 10 mm in the right lateral ventricle. T1-weighted images with two-dimensional fast low-angle shot (2D-FLASH) and T2-weighted images with half-Fourier single-shot turbo spin echo (HASTE) demonstrated that an old hemorrhagic clot existed in the right lateral ventricle of the fetus. hydrocephalus secondary to IVH was confirmed by postnatal MRI and ventriculoscopy. Fast MRI is especially useful for prenatal diagnosis of fetal brain abnormalities because it minimizes the artifact of fetal movement.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
5/130. Postpartum cerebellar herniation in von Hippel-Lindau syndrome.PURPOSE: To describe exacerbation during pregnancy of cerebellar hemangioblastoma in von Hippel-Lindau syndrome. METHOD: Case-report. A 21-year-old woman with von Hippel-Lindau syndrome was found on routine ocular examination to have severe papilledema 1 week after giving birth. RESULTS: Immediate magnetic resonance imaging disclosed a large cerebellar cyst from hemangioblastoma causing cerebellar tonsillar herniation. Immediate neurosurgical intervention was life saving. CONCLUSION: Worsening of intracranial hemangioblastoma during pregnancy in cases of von Hippel-Lindau syndrome should be realized and periodic neurologic and ophthalmologic observation is warranted.- - - - - - - - - - ranking = 0.85947907628258keywords = pregnancy (Clic here for more details about this article) |
6/130. Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.- - - - - - - - - - ranking = 0.42973953814129keywords = pregnancy (Clic here for more details about this article) |
7/130. Twin pregnancy in a woman on long-term epoprostenol therapy for primary pulmonary hypertension. A case report.BACKGROUND: pregnancy associated with primary pulmonary hypertension is an uncommon observation, with maternal mortality > 50%. Experience treating this condition is limited. Past reports have emphasized the need for pregnancy termination. In the last few years there has been considerable interest in long-term intravenous use of epoprostenol (prostacyclin) in patients with primary pulmonary hypertension. CASE: A woman with severe primary pulmonary hypertension who was on long-term epoprostenol therapy became pregnant with twins and was treated with high doses of epoprostenol and nitric oxide during delivery and the postpartum period. She was well six months later on continuous epoprostenol therapy. The one viable infant was alive and still hospitalized at this writing. CONCLUSION: epoprostenol therapy may be continued during pregnancy in patients with severe primary pulmonary hypertension for long-term pulmonary vasodilatation.- - - - - - - - - - ranking = 2.5784372288477keywords = pregnancy (Clic here for more details about this article) |
8/130. Blake's pouch cyst: an entity within the Dandy-Walker continuum.Abnormal cerebrospinal fluid (CSF) collections within the posterior fossa are defined by the Dandy-Walker complex (DWC) and by arachnoid cysts (AC). The DWC includes the Dandy-Walker malformation (DWM), the Dandy-Walker variant (DWV) and the mega-cisterna magna (MCM). In addition, Tortori-Donati et al. added persistent Blake's pouch cyst (BPC) as an independent entity within the DWC. BPC represents a posterior ballooning of the superior medullary velum into the cisterna magna. All of these malformations are overlapping developmental anomalies characterized by varying degrees of malformation of the medullary vela, the cerebellar vermis and hemispheres, the fourth ventricle choroid plexus, the posterior fossa subarachnoid cisterns and the enveloping meningeal structures. We present two cases of persistent BPC detected in two adult women without history of gestational or subsequent growth problems. They underwent neuroradiological investigation because of headache and because of recurrent episodes of loss of consciousness, respectively. The MRI findings included tetraventricular hydrocephalus, wide communication of the fourth ventricle and the cystic posterior fossa (i.e. BPC), inferior posterior fossa mass effect with or without hypoplasia of both the cerebellar vermis and the medial aspects of the cerebellar hemispheres, and absence of communication between fourth ventricle and the basal subarachnoid space in the midline posteriorly. Persistent BPC is defined by a failure of embryonic assimilation of the area membranacea anterior within the tela choroidea associated with imperforation of the foramen of Magendie. Typically this condition becomes symptomatic early in life. In the current cases the normal function of the laterally positioned foramina of Luschka probably helped to maintain some CSF flow between intraventricular and subarachnoid spaces, with the establishment of a precarious equilibrium characterized by a compensatory enlargement of the cerebral ventricular system (i.e. hydrocephalus).- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
9/130. A case of walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
10/130. Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.The Pallister-Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia. Since diaphragmatic hernia and acral hypoplasia can be also found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH. prenatal diagnosis of PKS has been reported in cases submitted to karyotyping due to advanced maternal age or congenital anomalies detected on second trimester ultrasound. Among the ultrasound-detected malformations, little attention has been paid to facial anomalies. We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening, and abnormal facial profile. The diagnosis was then confirmed by FISH on amniocytes and peripheral lymphocytes. In the present case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between PKS and Fryns syndrome.- - - - - - - - - - ranking = 1.7189581525652keywords = pregnancy (Clic here for more details about this article) |
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