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PubMed1980

Dandy-Walker syndrome: analysis of 21 cases.

During the years 1950 to 1978, a total of 21 cases of Dandy-Walker syndrome were seen at the Vancouver General Hospital. Apart from hydrocephalus, the associated brain anomalies included agenesis of the corpus callosum in four cases, occipital meningocele in two and aqueductal stenosis in one patient. Systemic malformations were present in four patients and included two cases of cleft palate, one of polycystic kidneys and one of congenital rubella syndrome. The over-all mortality was 48 per cent, but has declined since 1965. Of the 12 cases treated surgically, only four have died. The number of shunt revisions was high (about two per patient). Of the 11 survivors, three have normal intelligence, four show mild mental retardation, and four are moderately to severely retarded. The differential diagnosis, clinical course and surgical therapy are discussed. It is recommended that double shunting of a lateral ventricle and of the enlarged fourth ventricle should be the primary procedure in cases associated with aqueductal stenosis or occlusion, and should be the secondary procedure in patients who exhibit recurrence of increased pressure in the posterior fossa after simple shunting of a lateral ventricle.

Cerebrospinal Fluid Shunts↗

PubMed1986

Linear growth measurement: a comparison of single arm-lengths and arm-span.

An investigation was done to determine whether the arm-lengths of 44 children with myelomeningocele differed from those of 96 control children; whether the level of the meningocele lesion has any effect on arm-length; and to compare the relationship between arm-length and both stature and age. Mean total arm-lengths did not differ significantly between the two groups of children. However, the mean arm-spans of children with high myelomeningocele lesions differed significantly from those of control children. Within the myelomeningocele group, the height of the lesion had no significant effect on any of the arm-length variables. Very high positive correlations were found between upper-arm and total arm-lengths and stature, and between arm-span and stature in the control children. These results suggest that arm-length may be used as an alternative measure of linear growth in children, and that a single arm-length will be the most accurate indicator of growth of children with myelomeningocele.

Arm↗

PubMed1993

Stereotypical lower-limb movements of a child with Arnold-Chiari malformation.

A one-year-old boy with Arnold-Chiari malformation associated with hydrocephalus and meningocele presented with characteristic stereotypical alternating movements of the lower limbs. The movements were not considered to be epileptic, but to derive from a locomotion pattern-generator in the spinal cord. Persistence of the stereotypical movements implied some deficit of the upper-motor pathways, although the lesion responsible could not be determined.

Arnold-Chiari Malformation↗

PubMed1995

Cervical occult spinal dysraphism: MRI findings and the value of a vascular birthmark.

Spinal dysraphism is easily recognized in the overt form as a meningocele or myelomeningocele. The closed form or occult spinal dysraphism (OSD) can be overlooked. It occurs predominantly at the lumbosacral level, but OSD at the cervical level, although very rare, also occurs. The value of magnetic resonance imaging investigations in preparation for surgical treatment is emphasized. We discuss the value of various midline posterior skin anomalies as indicators of an underlying developmental defect in the neural axis. Hallmarks for OSD in the inferior third of the back are well known. They can also occur at the cervical level. Among these warning cutaneous midline changes, a vascular stain alone is rarely a clue for OSD whatever the spinal level involved, and specifically in the nuchal area.

Female↗

PubMed1983

Marfan's syndrome and epilepsy: report of two cases and review of the literature.

Epilepsy associated with Marfan's syndrome is rare. Although previous observations have shown that Marfan's patients with epilepsy had angioid streaks in the retina or coloboma of the iris, such ocular manifestations were absent in two patients reported here. One patient with mental retardation and lumbosacral meningocele had generalized seizure. Another patient with sinus bradyarrhythmia and prolapsed mitral valve had partial seizure with secondary generalization. This report and review of the literature suggest that epilepsy in Marfan's syndrome can be due to primary CNS disorders or secondary to disorders of connective tissue.

Adult↗

PubMedDate not supplied

Prevention of etretinate-induced craniofacial malformations by vitamin B6 in the rat.

The preventive effect of vitamin B6 on etretinate-induced malformations in pregnant Sprague-Dawley rats was studied. The etretinate-induced malformation was produced by intraperitoneal administration of 10 mg/kg etretinate at embryonal day 8.5. Vitamin B6 was administered as intramuscular injections at embryonal day 7.5 and 8.5. Vitamin B6 reduced the number and severity of facial clefts, micrognatia, meningocele, microtia and blood vessel anomalies. It is suggested that vitamin B6 induces suppressive effects on etretinate-induced teratogenesis when administered before or at the same time as the teratogen.

Abnormalities, Drug-Induced↗

PubMed1975

Perinatal lamb mortality in Western Australia. 7. Congenital defects.

Four hundred and one malformed lambs were examined during a 3-year investigation into the causes of perinatal lamb mortality. Frequence of involvement of the various body systems was: musculo-skeletal 55.4%, digestive 12.7%, cardiovascular 9.7%, uro-genital 7.1%, nervous 6.0%, special senses 3.5%, integument 3.2%, and endocrine 1.5%. A third of the defects (32.9%) involved more than one body system. There was a sex difference of 3 males: 2 females. The common defects in the lambs autopsied in order of frequence were: agnathia, atresia ani, cardiac defects, arthrogryposis, micrognathia, scrotal bifurcation, embryonic duplications, hernias, meningocele, and perosomus elumbis. Agnathia, atresia ani and persistent umbilical haemorrhage appeared to be hereditary. There was no relationship between congenital defects and the time of lambing and phytoestrogens.

Abnormalities, Multiple↗

PubMed1998

Magnetic resonance imaging of traumatic cervical nerve injuries.

Posttraumatic cervical injuries represent a spectrum of injuries ranging from simple traction to frank nerve root avulsion with meningocele formation. The authors describe 3 patients with cervical nerve injuries, depicted by magnetic resonance imaging, highlighting unusual imaging manifestations.

Accidents, Traffic↗

PubMed1989

The range of neural tube defects in southern India.

During a prospective study of 3500 consecutive births from November 1985 to January 1987 at three hospitals, 40 babies were found to have neural tube defects, an extremely high incidence (11.4/1000 births). The defects comprised anencephaly (n = 18), meningomyelocele (n = 11), Arnold-Chiari deformity (n = 3), encephalocele (n = 3), iniencephaly (n = 2), and one each of occipital meningocele, spina bifida occulta, and anencephaly with rachischisis. There were significant differences in incidence between those with consanguineous and nonconsanguineous parents and those whose mothers had previously given birth to malformed infants or who had had miscarriages, and those who had not. Significantly more defects were found among stillborn and low birthweight babies, among girls, and among those whose mothers were aged between 20 and 30 years. Just over a third (14) were breech presentations, and hydramnios was present in 16 (40%).

Abnormalities, Multiple↗

PubMed1984

Triploidy with cyclopia and identical HLA alleles in the parents.

A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.

Abnormalities, Multiple↗

PubMed1985

Should women at high risk of neural tube defect have an amniocentesis?

As part of an investigation into the practical problems of a maternal serum alphafetoprotein (AFP) neural tube defect (NTD) screening programme carried out in Mid Glamorgan, South Wales, between 1977 and 1979, obstetricians were recommended to refer women with high risk pregnancies directly for counselling, high resolution ultrasonography, and amniocentesis without first carrying out serum screening. Out of 15 687 pregnant women one-third attended too late to be screened. A total of 637 was classed as high risk, mostly at greater risk than 1 in 50 because of a previously affected pregnancy or an affected close relative. Compliance with recommended procedure was relatively low as many were screened. There were 10 pregnancies with a recurrence of NTD, of which one was not tested at all, two were not detected (one closed meningocele and one closed iniencephalic), and seven were detected and the pregnancies terminated. All the latter, as well as the iniencephalic, would have been detected from a serum AFP determination and a high resolution ultrasound scan alone. It is concluded that these investigations are sufficient for high risk pregnancies and that amniocentesis is not really cost effective or necessary unless either of these investigations is abnormal. As numbers in this study were small it is suggested that these conclusions should be tested in a larger study.

Amniocentesis↗

PubMed1989

Sibs with tetrasomy 18p born to a mother with trisomy 18p.

We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, tapering fingers, asymmetrical length of legs, and an asthenic body. The younger sister was stillborn with extensive defects of the skull, congenital hydrocephalus, severe facial anomalies, and lumbosacral meningocele. Both daughters have inherited one normal chromosome 18 and an isochromosome 18p from their mother, and one normal chromosome 18 from their father. Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daughters with tetrasomy 18p syndrome have been born to a mother with trisomy 18p with isochromosomes.

Abnormalities, Multiple↗

PubMed1991

Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.

We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. Intelligence is normal in both. Both boys suffer from functional constipation but biopsy studies showed no evidence of Hirschsprung's disease. The parents, who are normal, are not related. Inheritance is probably autosomal or X linked recessive. A possible link with the disorganisation mouse mutant is discussed.

Animals↗

PubMed1994

Anterior spinal hernia: an increasingly recognised cause of thoracic cord dysfunction.

Two cases of anterior spinal hernia are presented. The medical literature is reviewed, the syndrome characterised, and its cause and treatment discussed. The patient is typically middle aged with a history of stepwise slowly progressive mid-thoracic anterior hemicord syndrome manifesting as hemianalgesia below the affected segment, followed by contralateral lower limb spasticity that develops into an asymmetric paraparesis with sparing of dorsal column sensation. Radiological investigation demonstrates an enlarged dorsal arachnoid space in association with an apparently focally narrowed thoracic cord, kinked towards the anterior dura. At operation the cord is found to be prolapsed into an anterolateral dural diverticulum. The most likely cause of this syndrome is anterior spinal artery segmental branch ischaemia, in a cord chronically incarcerated in a congenital anterior meningocele. This readily treatable condition should be considered in all cases of thoracic cord dysfunction and surgical repair effected early to prevent stepwise progression to paraplegia.

Adult↗

PubMed1977

Acquired spontaneous, nontraumatic normal-pressure cerebrospinal fluid fistulas originating from the middle fossa.

Five cases of spontaneous cerebrospinal fluid (CSF) fistulas originating from the middle fossa are described, including one patient with an "empty" sella. It is suggested that acquired meningocele and meningoencephalocele progress to become CSF fistulas. The normal anatomical and physiological factors which give rise to acquired bone/dural/arachnoid dehiscences are discussed and illustrated.

Bone Diseases↗

PubMed1977

Occult spinal dysraphism in the geriatric patient.

Three patients in their seventies with occult spinal dysraphism are described. All three had tethered spinal cords, intrasacral meningoceles, and severe degenerative lumbar spondylopathy. The mechanism for the late development of symptomatology is related to an acquired lesion, degenerative spinal stenosis.

Aged↗

PubMed1996

MR myelography of the cervical spine.

In previous studies, magnetic resonance (MR) myelography was not effective in the cervical region. However, effective cervical MR myelography is possible with a modified fast spin-echo sequence (8,000/360 [repetition time msec/effective echo time msec], four signals averaged, echo train length of 24). In a clinical study of this protocol, MR myelography was performed as an additional sequence following conventional MR imaging; composite images were obtained with a maximum-intensity projection algorithm. The MR myelographic sequence added only 8.5 minutes to the total imaging time and yielded information not provided by MR imaging in 13% of patients. MR myelography was especially valuable in demonstrating abnormal intraspinal vascularity and in guiding patient treatment by providing detailed preoperative information about intradural masses and posttraumatic and postoperative diverticulum and meningocele. This MR myelographic technique is a useful adjunct to MR imaging, especially in cases in which the more detailed information provided will be helpful in the analysis of complex intraspinal disease.

Adult↗

PubMed1999

US assessment of the fetal head and neck: a state-of-the-art pictorial review.

When attention is paid to the details of normal and abnormal fetal head and neck anatomy, abnormalities that normally would be missed at prenatal ultrasonography can routinely be diagnosed. Five basic views are used to assess the fetal head and neck: a transverse view of the head in the plane of the cavum septum pellucidum and cerebellum, a sagittal and a coronal view of the face to visualize the nose and lips, a sagittal view of the cervical spine, and a transverse view of the orbits to measure the biorbital and interorbital distances. Thickened nuchal fold, a common sign of Down syndrome, can be assessed with transverse images of the head. Transverse views are also useful to demonstrate cystic hygroma, occipital meningocele, and encephalocele, all of which can be associated with other severe anomalies. Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities. Visualization of these entities should prompt further search and amniocentesis. Lymphangioma of the tongue appears similar to macroglossia but is an isolated anomaly. Transverse views through the orbits are helpful for demonstrating orbital teratoma, orbital encephalocele, and hypo- and hypertelorism (the latter two being associated with other abnormalities). Sagittal views of the neck can demonstrate cystic hygroma, teratoma, and an enlarged thyroid.

Congenital Abnormalities↗