1/195. 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 = 1keywords = family (Clic here for more details about this article) |
2/195. A rare cause of right atrial mass: thrombus formation and infection complicating a ventriculoatrial shunt for hydrocephalus.BACKGROUND: Thrombus formation around the intracardiac end of the catheter, thromboembolism, and infection are the most important and life-threatening complications of ventriculoatrial shunts. In this article we report a patient with a large right atrial mass that was diagnosed by 2-D echocardiogram and removed via standard median sternotomy and cardiopulmonary bypass. CASE DESCRIPTION: A 63-year-old man who had a right ventriculoatrial shunt was admitted to our department in a septic clinical condition. His hemoglobin was 10.7 grams, white blood cell count was 22,900/mm3, and sedimentation rate was 50 mm/hr. Blood cultures grew coagulase negative staphylococcus. The echocardiogram showed a right atrial mass at the tip of the shunt catheter. The mass had a cystic and "glove-like" appearance and had a pendulous motion in the right atrium. After combined antibiotic therapy for 10 days, symptoms were relieved but echocardiographic findings did not change. A surgical approach was chosen because of the unchanged size of the mass and the risk of pulmonary embolism. First, the distal part of the ventriculoatrial shunt was separated from its pump and a new ventriculoperitoneal shunt was placed. After this, a standard median sternotomy, cardiopulmonary bypass and right atriotomy was performed. The tip of the shunt catheter with the attached pedunculated mass was removed. CONCLUSION: There are few cases of a large right atrial thrombus secondary to a ventriculoatrial shunt in the literature. Because of these serious complications of ventriculoatrial shunting, careful 2-D transthoracic echocardiographic examination should be mandatory for patients with ventriculoatrial shunts.- - - - - - - - - - ranking = 0.0023376518465559keywords = life (Clic here for more details about this article) |
3/195. Reduction cranioplasty for macrocephaly. Two case reports.Multi-stage reduction cranioplasty was performed on two children with severe macrocephaly secondary to hydrocephalus. One patient underwent a four-stage operation, and the other underwent a two-stage operation. The postoperative course of both patients was uneventful. Reduction cranioplasty improved quality of life for both patients, and good cosmetic results were achieved. Reduction cranioplasty is effective for the treatment of macrocephaly, and multi-stage surgery can reduce the associated risks.- - - - - - - - - - ranking = 0.0023376518465559keywords = life (Clic here for more details about this article) |
4/195. Multiple neonatal endocrinopathies in McCune-Albright syndrome.Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder.- - - - - - - - - - ranking = 0.0023376518465559keywords = life (Clic here for more details about this article) |
5/195. Ontogeny of recurrent hydrocephalus: presentation in three fetuses in one consanguineous family.A consanguineous couple had 3 pregnancies in which prenatally diagnosed hydrocephalus was observed (in 1 female and 2 male fetuses). This case appears to represent an autosomal recessive form of hydrocephalus, given the consanguinity, affected sibs of both genders, and no evidence for intrauterine infection, chromosome abnormality, or neural tube defect.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
6/195. cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review.cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS.- - - - - - - - - - ranking = 0.0046753036931117keywords = life (Clic here for more details about this article) |
7/195. 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 = 0.0023376518465559keywords = life (Clic here for more details about this article) |
8/195. 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 = 0.25keywords = family (Clic here for more details about this article) |
9/195. recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.This report concerns two sibs from a consanguineous Sudanese family with microgastria-limb reduction defect associated with hydrocephalus and agenesis of corpus callosum. We suggest that these cases together with other previously reported cases of central nervous system (CNS) anomalies associated with microgastria-limb reduction defect could represent an autosomal recessive syndrome differing from the classical microgastria-limb reduction defect by its severity, presence of CNS anomalies and its pattern of inheritance.- - - - - - - - - - ranking = 1.25keywords = family (Clic here for more details about this article) |
10/195. Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.Isolated hydrocephalus due to congenital stenosis of the aqueduct of Sylvius is almost always an X-linked recessive inherited condition. We describe a brother and sister with isolated hydrocephalus from congenital aqueductal stenosis. We believe that these two occurrences represent a rare autosomal recessive form of this abnormality. In assessing a first known occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family, the rare possibility of autosomal inheritance must be considered in genetic counselling.- - - - - - - - - - ranking = 0.25keywords = family (Clic here for more details about this article) |
| | Next -> |