201/256. Fryns syndrome: neurologic findings in a survivor. Fryns syndrome, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and neurologic abnormalities, was first described in 1979. This autosomal recessive disorder is usually associated with stillbirth or death immediately after birth. Detailed neurologic findings in the third survivor beyond the neonatal period are reported, and neurologic abnormalities in other cases are reviewed. Initially, hypotonia, areflexia, and weakness were seen. myoclonus developed immediately after birth and was well controlled with high-dose valproate. electroencephalography revealed slowing and irregular paroxysmal discharges with spikes and sharp waves that disappeared with time and treatment. magnetic resonance imaging demonstrated partial agenesis of the corpus callosum, a Dandy-Walker malformation, and progressive cerebral and brainstem atrophy. This syndrome should be considered in patients with unusual facial features and digital abnormalities associated with frequent early myoclonus. ( info) |
202/256. Unilateral megalencephaly in association with Dandy-Walker complex. Unilateral megalencephaly is a rare congenital anomaly. The authors report a case of unilateral megalencephaly associated with Dandy-Walker complex. The embryonic pathogenesis of both entities is discussed. In the absence of magnetic resonance imaging, computed tomography can be used to document these abnormalities. ( info) |
203/256. Tectocerebellar dysraphia with posterior encephalocele (Friede): report of the youngest case. Reappraisal of the condition uniting Cleland-Chiari (Arnold-Chiari) and Dandy-Walker syndromes. This is a neuropathological report of the youngest case ever recorded of tectocerebellar dysraphia with posterior encephalocele. All previously described stigmata were ascertained as well as a few additional findings. Some morphological features of this syndrome similar to and some different from the dandy-walker syndrome and the Cleland-Chiari (Arnold-Chiari) anomaly are briefly discussed. Finally the possibility of clinical diagnosis and favourable prognosis of this syndrome are suggested. ( info) |
204/256. Recurrent Dandy-Walker malformation. This is a report of a 18 year-old woman with two consecutive fetuses suffering from a Dandy-Walker malformation (DWM). The first diagnosis of dandy-walker syndrome was at 24 weeks gestation. According to the parent's request, this pregnancy was terminated. Seven months after that event a new case of Dandy-walker malformation was diagnosed in the same woman. She was at 21 weeks of gestation. ( info) |
205/256. Paradoxical ventricular enlargement after successful shunting. We present two cases of ventricular obstruction in which shunting of intracranial cysts resulted in the unexpected finding of ventricular enlargement. By imaging criteria this suggested shunt malfunction [corrected]; however, the clinical presentation dramatically improved. The probable mechanism for this diagnostic pitfall is discussed. ( info) |
206/256. Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families. ( info) |
| smith-lemli-opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism. We present the first report of prenatal diagnosis of SLOS-II, as well as an additional report of prenatal detection of multiple anomalies, in which a positive diagnosis of SLOS II was made postnatally. In neither case was the pregnancy known prospectively to be at risk for SLOS-II. In the former case, targeted sonographic examination at 31 weeks of gestation showed intrauterine growth retardation, atrioventricular septal defect, mesomelic shortening of the arms, small kidneys, overlapping fingers, and female external genitalia; a 46,XY chromosome constitution had been ascertained previously. A provisional diagnosis of SLOS-II was made prenatally. In the latter case, targeted sonographic examination at 18 weeks of gestation showed severe oligohydramnios, atrioventricular septal defect, and Dandy-Walker malformation. The kidneys and bladder were not visualized. The chromosome constitution was 46,XX. The diagnosis of SLOS-II was made postnatally. In both cases, additional findings compatible with SLOS-II were noted postnatally. Prenatal detection of congenital heart defects and renal abnormalities, in combination with certain additional findings (most notably, female external genitalia in the presence of a 46,XY karyotype, polydactyly, disproportionately short limbs, or intrauterine growth retardation) and a normal karyotype, suggests the diagnosis of SLOS-II, and warrants further investigation. ( info) |
208/256. Fate of 6 fetuses with ventriculo-megaly or potential ventriculo-megaly followed up post-natally. Six fetuses were studied--3 with ventriculo-megaly and normal head circumferences, 2 with ventriculo-megaly and enlarged head circumferences, and 1 with a Dandy-Walker complex and normal lateral and third ventricles. Post-natally it was found that fetal ventriculo-megaly was not associated with raised intracranial pressure at least in the first few months of life unless the head size was enlarged. The baby with the Dandy-Walker complex developed ventriculo-megaly and raised intracranial pressure several months after birth following progressive enlargement of the posterior fossa extra-axial cyst. ( info) |
209/256. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype. A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus. ( info) |
210/256. Complete trisomy 9: case report with ultrasound findings. In a case of complete trisomy 9, ultrasound findings led to prenatal diagnosis. This case is reviewed in the context of previous case reports. A 29-year-old gravida III, para II was referred at 34 weeks because of abnormal ultrasound findings. The findings included intrauterine growth retardation, Dandy-Walker malformation, a single atrium, liver calcifications, a two-vessel cord, and abnormal Doppler studies. Percutaneous umbilical blood sampling revealed complete trisomy 9. prenatal diagnosis led to a plan of no intervention for fetal indications. autopsy revealed facial, cardiovascular, central nervous, and skeletal findings frequently seen in complete trisomy 9. review of all cases showed that 12 of 15 (80%) occurred in mothers younger than 35 years, 11 of 13 cases (85%) delivering after 23 weeks' gestation were small for gestational age, and 7 of 12 liveborns (58%) had cesarean delivery. Only 3 of 12 liveborns (25%) lived beyond 7 days. Abnormal ultrasound findings can be seen in cases of complete trisomy 9. prenatal diagnosis allows the parents to make an informed decision regarding fetal intervention, which may avoid unnecessary cesarean delivery. ( info) |