191/256. Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects. We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique. ( info) |
192/256. A case of Marden-Walker syndrome with Dandy-Walker malformation. A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging. ( info) |
193/256. Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Morphologic and metabolic abnormalities in six children aged 2-9 years with carbohydrate-deficient glycoprotein (CDG) syndrome were assessed by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). In all patients, MRI revealed pronounced cerebellar atrophy. Follow-up examinations in two patients suggested early onset and rapid progression in the first years of life. Further pathologies comprised Dandy-Walker malformation, atrophy of the pons, brain stem and olives, supratentorial frontotemporal cortical atrophy, slightly dilated ventricles and a small corpus callosum. Two patients presented with small cysts in the white matter. The prominent metabolic abnormality detected by proton MRS in five patients was a reduction in N-acetylaspartate in white matter by more than 20%, indicating loss of vital neuroaxonal tissue. Further findings in white matter were glutamine and gamma-aminobutyrate increases by a factor of 2. One patient with type III CDG syndrome showed the most severe alterations of metabolite concentrations. ( info) |
194/256. Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique. We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios. ( info) |
195/256. Enlarging subependymal cyst: case report. A 1-month-old infant with a Dandy-Walker malformation underwent the placement of a ventriculoperitoneal shunt to treat progressive hydrocephalus. On the initial computed tomographic scan, a subependymal cystic lesion larger than 1 cm in diameter was noted in the head of the right caudate nucleus, which enlarged to 3 cm in diameter on follow-up imaging studies over the course of a year. Biopsies taken at the time of fenestration failed to show the presence of neoplasia. This appears to be the first reported case of a cyst of this nature to show progressive enlargement. ( info) |
196/256. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. The sebaceous nevus syndrome is sometimes associated with hemimegalencephaly and a group of related abnormalities including ipsilateral gyral malformation, mental retardation, seizures, especially infantile spasms, and facial hemihypertrophy. This combination has been described as the "neurological variant of epidermal nevus syndrome." Other brain malformations have been reported only rarely. We report on a child with a subtle sebaceous nevus associated with hemimegalencephaly who also had agenesis of the corpus callosum and Dandy-Walker malformation. ( info) |
197/256. prenatal diagnosis of Dandy-Walker malformation: report of a case. Dandy-Walker malformation is one of the major causes of congenital hydrocephalus. We report on a case that was diagnosed by sonography in a fetus at 34 weeks' gestation. The diagnosis was confirmed by postnatal computed tomographic (CT) brain scan and magnetic resonance imaging (MRI). The prenatal sonographic findings were a large posterior fossa in communication with the fourth ventricle, a small and splayed cerebellar hemisphere and marked degrees of ventriculomegaly. The postnatal CT scan images were similar to the prenatal sonography. The hypoplasia of the cerebellar vermis and the associated hypogenesis of the corpus callosum can only be clearly delineated by MRI. Dandy-Walker malformation is one form of the Dandy-Walker complex and cystic malformations of the posterior fossa. It should be differentiated from Dandy-Walker variant, or mega-cisterna magna, and arachnoid cyst. Dandy-Walker complex may be associated with chromosomal, intracranial and extracranial abnormalities. Early in utero detection is useful for detailed evaluation of associated anomalies. Obstetric management depends on gestational age, karyotype abnormality and associated intracranial and extracranial anomalies. In the present report, the infant presented no progressive ventriculomegaly and no surgery was required. The infant developed normally. ( info) |
198/256. microphthalmos, facial capillary hemangioma and Dandy-Walker malformation. We present a 6-month-old girl with the unusual combination of microphthalmos, facial capillary hemangioma and Dandy-Walker malformation. This is the fourth case with such an association reported in the literature. On the basis of the experience with our patient and with those previously reported, we stress the importance of performing brain-imaging studies on all infants with large facial hemangiomas, or if unusual ophthalmic findings are present. ( info) |
199/256. Dandy-Walker malformation in the Meckel syndrome. The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy-Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro-reno-digital (Meckel-like) syndromes. ( info) |
200/256. Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. We describe an infant with a deletion of 8q21-->22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome. ( info) |