Fetal cataract in congenital toxoplasmosis. (9/1062)

We report a case of the prenatal diagnosis of fetal cataract due to congenital toxoplasmosis. To the best of our knowledge, this is the first report of such a case. We discuss the long-term ocular sequelae of the condition and how they should affect prenatal counselling.  (+info)

Migration of the abdominal catheter of a ventriculoperitoneal shunt into the scrotum--case report. (10/1062)

A 3-day-old male neonate presented with migration of the ventriculoperitoneal (VP) shunt tip through the patent processus vaginalis resulting in scrotal hydrocele. The association of myelomeningocele with hydrocephalus may have been a predisposing factor in this rare complication. Development of scrotal swelling or hydrocele in a child with VP shunt should be recognized as a possible shunt complication.  (+info)

Reduction cranioplasty for macrocephaly. Two case reports. (11/1062)

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.  (+info)

Altered formation and bulk absorption of cerebrospinal fluid in FGF-2-induced hydrocephalus. (12/1062)

Upregulation of certain growth factors in the central nervous system can alter brain fluid dynamics. Hydrocephalus was produced in adult Sprague-Dawley rats by infusing recombinant basic fibroblast growth factor (FGF-2) at 1 microg/day into a lateral ventricle for 2, 3, 5, or 10-12 days. Lateral and third ventricular enlargement progressively increased from 2 to 10 days. Ventriculomegaly was also induced by a 75% reduced dose of FGF-2. At 10-12 days, there was a 29% attenuation in cerebrospinal fluid (CSF) formation rate, from 2. 5 to 1.8 microliter/min (P < 0.01). Choroid plexus, the main site of CSF secretion, had an augmented number of dark epithelial cells, which have previously been associated with decreased choroidal fluid formation. The twofold elevated resistance to CSF absorption, i.e., 0.8 to 1.7 mmHg. min(-1). microliter(-1), was attributable, at least in part, to enhanced fibrosis and collagen deposits in the arachnoid villi, a major site for CSF absorption. Normal CSF pressure (2-3 mmHg) was consistent with a patent cerebral aqueduct and reduced CSF formation rate. The FGF-2-induced ventriculomegaly is interpreted as an ex vacuuo hydrocephalus brought about by an altered neuropil and interstitium of the brain.  (+info)

Increase of collagen synthesis and deposition in the arachnoid and the dura following subarachnoid hemorrhage in the rat. (13/1062)

Arachnoidal fibrosis following subarachnoid hemorrhage (SAH) has been suggested to play a pathogenic role in the development of late post-hemorrhagic hydrocephalus in humans. The purpose of this study was to investigate the rate of collagen synthesis in the arachnoid and the dura in the rat under normal conditions and to study the time schedule and the localization of the increased collagen synthesis following an experimental SAH. We found that the activity of prolyl 4-hydroxylase, a key enzyme in collagen synthesis, was 3-fold higher in the dura than that in the arachnoid and was similar to the activity in the skin. We then induced SAH in rats by injecting autologous arterial blood into cisterna magna. After SAH, we observed an increase in prolyl 4-hydroxylase activity of the arachnoid and the dura at 1 week. At this time point the enzyme activity in both tissues was 1.7-1.8-fold compared to that in the controls and after this time point the activities declined but remained slightly elevated at least till week 4. The rate of collagen synthesis was measured in vitro by labeling the tissues with [(3)H]proline. The rate increased to be 1.7-fold at 1 to 2 weeks after the SAH in both of the tissues. Immunohistochemically we observed a deposition of type I collagen in the meninges at 3 weeks after the SAH. SAH is followed by a transient increase in the rate of collagen synthesis in the arachnoid and, surprisingly, also the dura. Increased synthesis also resulted in an accumulation of type I collagen in the meningeal tissue, suggesting that the meninges are a potential site for fibrosis. The time schedule of these biochemical and histological events suggest that meningeal fibrosis may be involved in the pathogenesis of late post-hemorrhagic hydrocephalus.  (+info)

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. (14/1062)

Mutations in the gene for neural cell adhesion molecule L1 (L1CAM) result in a debilitating X-linked congenital disorder of brain development. At the neuronal cell surface L1 may interact with a variety of different molecules including itself and two other CAMs of the immunoglobulin superfamily, axonin-1 and F11. However, whether all of these interactions are relevant to normal or abnormal development has not been determined. Over one-third of patient mutations are single amino acid changes distributed across 10 extracellular L1 domains. We have studied the effects of 12 missense mutations on binding to L1, axonin-1 and F11 and shown for the first time that whereas many mutations affect all three interactions, others affect homophilic or heterophilic binding alone. Patient pathology is therefore due to different types of L1 malfunction. The nature and functional consequence of mutation is also reflected in the severity of the resultant phenotype with structural mutations likely to affect more than one binding activity and result in early mortality. Moreover, the data indicate that several extracellular domains of L1 are required for homophilic and heterophilic interactions.  (+info)

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities. (15/1062)

Posterior fossa abnormalities are sonographically diagnosable in the fetus. Anomalies of this region include Dandy-Walker malformation, enlarged cisterna magna, and arachnoid cyst. Despite prenatal diagnosis, the uncertainties related to natural history and neurodevelopmental outcome in survivors make patient counseling difficult. The purposes of this study were to determine the accuracy of prenatal diagnosis of these lesions and elucidate long-term neurodevelopmental outcome in survivors in prenatally diagnosed posterior fossa abnormalities. Fifteen cases of posterior fossa abnormalities were reviewed. Antenatal diagnoses of Dandy-Walker malformation was made in 13 of these cases, arachnoid cyst in one case, and enlarged cisterna magna in one case. Hydrocephalus was present in 66% of patients. The sonographic diagnosis was concordant with the pathologic or neonatal radiologic diagnosis in 13 of 15 cases. Seven fetuses (47%) exhibited additional cranial or extracranial anomalies. A karyotypic abnormality (trisomy 18) was found in one of 15 cases of posterior fossa abnormalities. Neurodevelopmental delay was present in 80% of survivors with follow-up study to 4 years of age. Prenatal diagnosis of posterior fossa abnormalities is highly accurate, yet the differential diagnosis can be challenging. Cognitive and psychomotor developmental delays remain commonplace despite early diagnosis and treatment. The approach with families in cases of prenatal diagnosis of posterior fossa abnormalities should include a search for additional central nervous system and extra-central nervous system anomalies in the fetus and counseling of parents regarding potential adverse outcome for survivors.  (+info)

Third ventriculostomy patency: comparison of findings at cine phase-contrast MR imaging and at direct exploration. (16/1062)

BACKGROUND AND PURPOSE: Two-dimensional phase-contrast (PC) MR imaging is a known method for evaluating CSF flow after third ventriculostomy. In this study, we attempted to confirm the accuracy of cine PC MR imaging for determining the patency of a third ventriculostomy as compared with direct reexploration of the floor of the third ventricle. METHODS: We examined 11 patients with third ventriculostomies who had a total of 13 reoperations for symptomatic obstructive hydrocephalus. In 12 of the 13 reexplorations, cine PC MR studies were obtained before repeat surgery, and the diagnoses suggested by imaging were compared with intraoperative findings. RESULTS: Four of five patients who had no flow on MR images had new membranes that covered the orifice; the fifth patient still had a small perforation visible at the time of operation. Three of four patients who had subtle flow on MR images were found to have occlusion with new membranes; the fourth had an incomplete new membrane. Finally, two of three who had a patent ventriculostomy had completely open perforations without membrane formation; the third patient had nonobstructive early membrane formation. At 3 months' follow-up, two flow studies were read as subtle without any clinical symptoms; however, these eventually progressed to become symptomatic, and occlusion with new membrane formation was confirmed during surgical reexploration. CONCLUSION: Cine PC MR imaging is a reliable technique for detecting the patency of a third ventriculostomy, but minor flow, as defined in this report, appears to be an early sign of closure.  (+info)