1/248. A case of cerebrospinal fluid eosinophilia associated with shunt malfunction.A 3-month-old female patient presented with a meningomyelocele at the lumber region associated with congenital hydrocephalus. She underwent ventriculoperitoneal (V-P) shunt surgery using the Sophy system. The shunt system was replaced due to a malformation. Following replacement, the patient presented with cerebrospinal fluid (CSF) eosinophilia at the age of 8 months. The eosinophilic granulocytosis of the CSF improved dramatically following systemic prednisolone administration. CSF eosinophilia without accompanying inflammation or pyrexia in the present case may have resulted from an allergic response to a foreign material such as the silicone tube pressure valve of the Sophy system or the sutures rather than bacterial or fungal infection. Based on our results, we believe that some patients may experience CSF eosinophilia following postoperative V-P shunt due to an allergic reaction to the shunt equipment. Prompt steroid treatment can produce spontaneous regression in such cases.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/248. Ultrasound-guided puncture of a Dandy-Walker cyst via the lateral and III ventricles.Since the dandy-walker syndrome was first described by Dandy and Blackfan, Taggart and Walker, the many variants of posterior fossa anomalies, the appropriate management of these malformations and the clinical outcome have been the subjects of controversy. Surgery of the posterior fossa with membrane excision was initially the preferred method of treatment. Unfortunately, there was a high rate of complications, and many of the patients treated in this way still needed a shunting system. Ventricular-peritoneal and/or cysto-peritoneal shunting is commonly used to treat symptomatic posterior fossa cysts of Dandy-Walker malformations and hydrocephalus. Cysto-peritoneal shunt implantation only was associated with a high rate of complications, and most patients so treated needed a ventriculo-peritoneal shunt in addition. According to the literature, combined ventriculo-peritoneal and cysto-peritoneal shunting is needed for satisfactory decompression of Dandy-Walker cyst and hydrocephalus in between 16% and 92% of cases. We report on a young patient with a Dandy-Walker malformation who needed drainage of the posterior fossa and a ventricular shunt. We decided to drain the cyst and the supratentorial ventricles via a single, especially prepared, catheter with many perforations. The catheter was inserted under ultrasound guidance. The tube was inserted from the left lateral ventricle through the foramen of Monro into the III ventricle and downwards into the cyst. Intraoperatively, an immediate decrease in the size of the cyst and the supratentorial ventricles was observed. Postoperative MRI confirmed the exact position of the catheter and sufficient drainage of the posterior fossa cyst and the ventricles. Six months later the girl was seen in our outpatient department. Clinical examination showed no neurological deficit, and MRI demonstrated sufficient drainage of the ventricles and the Dandy-Walker malformation, and in addition hypoplasia of the corpus callosum.- - - - - - - - - - ranking = 4keywords = malformation (Clic here for more details about this article) |
3/248. Pressure in the hydrocephalic fetal head during the first stage of labor.Intraamniotic pressure was studied in the 30th week of amenorrhea in relationship with fetal intracranial pressure with open-tip catheters. The fetus had a severe hydrocephalus (echoscopy 16 cm) due to a teratologic malformation of the cerebrum. Clinically nonoperative treatment was indicated. intracranial pressure (X) was invariably higher than intraamniotic pressure (Y) between contractions: Y = 2.04 0.54 X, and during contractions: Y = 5.30 0.55 X. There was no definite relationship between intrauterine and intracranial pressure, and the fetal tachogram. A definite relationship was established with the supine position of the patient and decelerations in the fetal tachogram. It is suggested that when fetal cardiac decelerations are seen during the first stage of labor it seems advisable to look for factors such as umbilical cord compression and decrease of materno-placental perfusion rather than fetal head compression.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
4/248. Congenital malformations after intracytoplasmic injection of spermatids.Spermatid microinjection into oocytes was applied in cases of intracytoplasmic sperm injection (ICSI)/testicular sperm extraction (TESE) where no spermatozoa could be found in numerous testicular samples. Although several pregnancies were obtained with this procedure, serious concerns remain regarding its safety. Although the relevance of the injection of spermatids is by no means certain, we wish to report that from four pregnancies obtained after injection of elongated spermatids, two cases of major malformation resulted.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
5/248. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
6/248. goldenhar syndrome with rare associations.goldenhar syndrome is a malformation complex involving the structures arising from first and second branchial arches, the first pharyngeal pouch, first branchial cleft and primordia of the temporal bone. Though the syndrome itself is not very rare, the presence of polydactyly and hydrocephalus, which are rare associations, prompted us to report this case.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
7/248. Otolaryngologic aspects of oral-facial-digital syndrome.The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eight different types of OFD are discussed, with particular attention to the characteristics of the most interest to the otolaryngologist.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
8/248. 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 = 3keywords = malformation (Clic here for more details about this article) |
9/248. Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.We report an infant boy with an apparently new malformation syndrome. The major anomalies showed by the patient include diffuse polymicrogyria, congenital hydrocephalus, craniosynostosis with severe scaphocephaly, severe mental retardation, intractable epilepsy, and minor facial and genital anomalies. Our review of the literature and two computerized dysmorphology databases found some papers reporting polymicrogyria or lissencephaly associated with craniosynostosis or hydrocephalus. None of the reported patients had a phenotype similar to that of our patient.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
10/248. Successful treatment of a neonate with vein of Galen aneurysmal malformation.We present a follow-up study on a 5-year-old boy who was born with vein of Galen aneurysmal malformation (VGAM) accompanied by extreme cardiovascular distress. He was successfully treated by the staged endovascular technique during the neonatal stage. Postoperative angiographic study confirmed complete occlusion of the VGAM and the establishment of normal brain perfusion. At 5 years of age, the child is growing normally without neurological deficits or developmental retardation. We suggest that the restoration of normal brain perfusion in neonates with VGAM can cause normal brain development.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
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