1/16. walker-warburg syndrome. Report of two cases.The purpose of this study is to describe two infants that were diagnosed with walker-warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index case's older sister, based upon her clinical picture and head CT report.- - - - - - - - - - ranking = 1keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
2/16. 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 = 1.0162255545248keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/16. Occlusive hydrocephalus in congenital myotonic dystrophy.A case of congenital myotonic dystrophy is reported which was complicated by the development of a hydrocephalus that needed ventricular-peritoneal shunting at the age of 4 months. Although dilatation of cerebral ventricles is a common feature in these patients, an occlusive hydrocephalus has not so far been reported.- - - - - - - - - - ranking = 0.081127772623864keywords = dystrophy (Clic here for more details about this article) |
4/16. Fibrinoidal leucodystrophy (Alexander's disease) at 13 months girl. A case report.The case of Alexander's fibrinoidal leucodystrophy that was presented below is an exemplar of extremely rare degenerative disease of the CNS. On the grounds of the clinical course of the disease it seems that our case can be reckoned as an early childhood form of Alexander's disease. An interesting difference that pays attention is the marked hydrocephalus. In the most cases of Alexander's disease the volume of ventricular system is normal however most of authors expresses that it sometimes can be slightly and insignificantly enlarged.- - - - - - - - - - ranking = 0.081127772623864keywords = dystrophy (Clic here for more details about this article) |
5/16. The walker-warburg syndrome.The walker-warburg syndrome is characterized by lissencephaly type II, cerebellar and retinal anomalies and congenital muscular dystrophy. A clinical and histopathological study of a case is presented and the differential diagnosis discussed.- - - - - - - - - - ranking = 1keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
6/16. Case report: selective occipital lobe hydrocephalus and agenesis of the left lobe of the liver in congenital myotonic dystrophy.myotonic dystrophy (Steinert's disease) is an uncommon familial autosomal dominant disease, characterized by progressive muscular atrophy and myotonia. Mental retardation, frontal baldness, cortical lenticular opacities and testicular atrophy are other prominent features of a disease that involves predominantly striated muscle. There is little information regarding this disease in the radiological literature. The present report introduces two additional findings involving the skull and the liver.- - - - - - - - - - ranking = 0.081127772623864keywords = dystrophy (Clic here for more details about this article) |
7/16. Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.- - - - - - - - - - ranking = 4.1645095192935keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
8/16. Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus.A 20-week fetus affected with cerebro-ocular dysplasia and muscular dystrophy (walker-warburg syndrome) is reported. The central nervous system (CNS) findings were typical of those previously described in this disorder, and were characterized by lissencephaly, hydrocephalus, and cerebral and cerebellar cortical dysplasia with glial and neuronal displacement into the leptomeninges. In addition, severe hypoplasia of pyramidal tracts were noted in the brain stem and spinal cord, as well as malformation of the inferior olivary and dentate nuclei. Skeletal muscle and eyes appeared normal on light microscopy. The genetic defect in this disorder is expressed in the CNS early during the first trimester and causes a marked disorder of cellular migration. Overt changes in muscle occur during a later period. The changes in the CNS are similar to, but more severe than, those found in Fukuyama congenital muscular dystrophy, and both may represent a failure of constraint of neuronal migration. Whether the syndromes characterized by cerebro-ocular dysplasia and muscular dystrophy are genetically heterogeneous or allelic variations is unknown. Molecular genetic analysis should elucidate this question.- - - - - - - - - - ranking = 1.4935285578806keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
9/16. Diagnostic criteria for walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. We reviewed data on 21 of our patients and an additional 42 patients from the literature. From this review, we expand the phenotype to include congenital muscular dystrophy (CMD) and cleft lip and/or palate (CLP), and revise the diagnostic criteria. Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), cerebellar malformation (20/20), retinal malformation (18/18), and CMD (14/14). We propose that these comprise necessary and sufficient diagnostic criteria for WWS. Two other frequently observed abnormalities, ventricular dilatation with or without hydrocephalus (20/21) and anterior chamber malformation (16/21), are helpful but not necessary diagnostic criteria because they were not constant. All other abnormalities occurred less frequently. Congenital macrocephaly with hydrocephalus (11/19) was more common than congenital microcephaly (3/19). Dandy-Walker malformation (10/19) was sometimes associated with posterior cephalocele (5/21). Additional abnormalities included slit-like ventricles (1/21), microphthalmia (8/21), ocular colobomas (3/15), congenital cataracts (7/20), genital anomalies in males (5/8), and CLP (4/21). Median survival in our series was 9 months. A related autosomal recessive disorder, Fukuyama congenital muscular dystrophy, consists of similar but less severe brain changes and CMD. It differs from WWS because of consistently less frequent and severe cerebellar and retinal abnormalities. We think that WWS is identical to "cerebro-oculo-muscular syndrome" and "muscle, eye, and brain disease."- - - - - - - - - - ranking = 2keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
10/16. hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis of aqueduct, Dandy-Walker cyst and cerebellar micropolygyria. The mode of transmission, the eyes abnormalities and the neuropathological findings of this family resemble the clinical and pathological aspects of Warburg syndrome. However, the presence of congenital muscle dystrophy in one of these children suggests some links with Fukuyama's congenital muscular dystrophy and/or with so-called brain-eye-muscle disease of Santavuori. These three syndromes are shortly discussed. The present case and few others reported in the literature obviously represent a severe and lethal form of a congenital disease involving brain, muscle and eyes.- - - - - - - - - - ranking = 6.0162255545248keywords = congenital muscular dystrophy, muscular dystrophy, dystrophy (Clic here for more details about this article) |
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