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PubMed1990

Meckel-Gruber syndrome. A lethal combination of abnormalities.

We herein describe two cases of Meckel-Gruber Syndrome identified in stillborn infants. Both had all three elements of the classical triad, namely, occipital encephalocele, renal cystic dysplasia and post-axial polydactyly. In addition, many of the other well-known accompanying abnormalities were present. Awareness of this entity in this region is important because of its high risk of recurrence in subsequent pregnancies.

Diagnosis, Differential↗

PubMed1990

[Transethmoidal encephalomeningocele in neonate--report of two cases and review of literatures].

Transethmoidal meningoencephalocele is caused by protrusion into the nasal cavity of a part of brain and meninges through an ethmoidal defect being a subtype of basal meningoencephalocele. It is extremely rare as only a few cases have been reported so far. It gives characteristic symptoms and signs as follows: (i) mouth breathing and snoring due to intranasal tumor and obstruction from birth, (ii) pulsation of the tumor synchronous with pulse or respiration, (iii) complication of facial deformities such as hypertelorism, cleft lip and palate, and (iv) leakage of cerebrospinal fluid from the nose, meningitis, etc. Moreover, agenesis of corpus callosum and congenital hydrocephalus are identified, which indicate the origin of this disease as have been reported by various authors. Recently, we experienced two cases of newborn infants with this anomaly. Case 1: A 1-day-old male was born by Caesarean section at full term, body weight at birth being 3500 gm, cranial circumference 35.2 cm, and Apgar score at 5 minutes of full. Since he was dyspneic while nursing, he was transferred to our clinic. Hypertelorism, unequal anterior nares, and micrognathia were the facial abnormalities at admission. Both nasal cavities were completely obstructed by abnormal bony tissue at about 3 cm from the anterior border of the nares. No obvious abnormality was found by neurological and biochemical examination. A transcranial repair of the basal encephalocele was performed. The crista galli could not be seen, but the base of the frontal skull was found to be deeply depressed into the ethmoid sinus proper just as seen by CT scan.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗

PubMed1989

[Epidemiology of neural tube defects in China].

During a period of 12 months (Oct. 1986 to Sep. 1987), 1,243,284 live and still births from 28 weeks of gestation to a period within 7 days after delivery were monitored in 945 hospitals of 29 provinces, cities and autonomous regions of China. A total of 3,404 cases of neural tube defects were recorded, among which there were 1,891 cases of anencephaly (55.6%), 1,050 cases of spina bifida (30.9%) and 463 cases of encephalocele (13.6%). The incidence of neural tube defects in China varied from 6.6 to 105.5 with a mean of 27.4 per 10,000. A female preponderance (35.7 per 10,000) over the male (19.2 per 10,000) was noted (P less than 0.01). The incidence of neural tube defects in the rural area (51.7 per 10,000) is higher than that in the urban area (15.5 per 10,000), (P less than 0.01).

Anencephaly↗

PubMed1988

First-trimester diagnosis of fetal abnormalities. A report of three cases.

First-trimester sonography is used extensively for dating pregnancy and in conjunction with chorionic villus sampling. It is crucial to examine the fetus carefully, even at this early stage, since some fetal abnormalities are detectable in the first trimester. In three cases encephalocele, thanatophoric dwarf and cystic hygroma were diagnosed with sonography in the first trimester.

Abortion, Therapeutic↗

PubMedDate not supplied

Posttraumatic ethmoidal pseudomeningoencephalocele.

Three cases are presented that illustrate the potential of craniofacial trauma to generate pseudomeningocele formation in the region of the ethmoidal air cells. In each case there was the further association of herniation of cerebral substance through the chronic diastatic fracture resulting in an acquired encephalocele. Contrast cisternography showed this important combination of anatomic findings and aided in planning the subsequent reparative surgery.

Adolescent↗

PubMed1988

Comparative teratogenicity of triamcinolone acetonide and dexamethasone in the rhesus monkey (Macaca mulatta).

Pregnant rhesus macaques were treated with 0.5 or 2.5 mg/kg triamcinolone acetonide (TAC) or 1.0 or 10.0 mg/kg dexamethasone sodium phosphate (DEX) between 20 and 50 gestational days (GD). Treatment with TAC at 2.5 mg/kg resulted in a fetal loss of 71%; 3/5 recovered fetuses displayed an encephalocele or meningocele. All other treatment groups displayed minor cranial skeletal abnormalities consistent with glucocorticoid-mediated teratogenesis. DEX was shown to have a lower teratogenic potential than TAC in this species.

Abnormalities, Drug-Induced↗

PubMed1988

[Surgical management of frontobasal defects by a transcranial subfrontal approach].

On hand of 43 patients who underwent surgical closure of the rhino-frontobasis because of lesions in this localization (38 frontobasal fractures, 2 encephaloceles, 3 defects after surgery of olfactorius-meningeomas) our experiences as well as indications and techniques of the transcranial-subfrontal approach are reported. As there was quite a high number of patients in this group (n = 23, 53%) who - retrospectively - suffered of at least one severe meningitis, the authors stress their opinion that the indication for surgical procedure should be affirmed as consistently as possible, especially in cases were primary rhino-liquorrheas have stopped and bony defects have not been verified in predelective localizations.

Adolescent↗

PubMed1988

Birth prevalence and recurrence rates of neural tube defects in southern Alberta in 1970-81.

Given the observed variation in birth prevalence and recurrence rates of neural tube defects, it is important to obtain such data specific to a given locality for research and genetic counseling purposes. A review of hospital medical charts, the patient lists of the Medical Genetics and Myelomeningocele clinics at Alberta Children's Hospital and data from the Canadian Congenital Anomalies Surveillance System revealed the annual birth prevalence rate of neural tube defects in southern Alberta in 1970-81 to be 1.62/1000 total births. This figure suggests southern Alberta to be a low-frequency area. There was no significant variation in the annual rates of spina bifida, encephalocele or all neural tube defects combined over the study period. A significant linear decline in the frequency of births of anencephalic infants, however, was noted (p = 0.025). Information on the total reproductive history of the mothers revealed that the empiric risk of recurrence of a neural tube defect was 2.2%, and the risk to all siblings was estimated to be 2.3%. In future prevalence studies multiple sources of case ascertainment should be used, including data on pregnancies terminated because of a fetal neural tube defect.

Alberta↗

PubMed1986

[Pulsating nasopharyngeal tumor. Case report of spheno-pharyngeal cephalocele].

We describe a patient with a pulsatile nasopharyngeal tumour. The diagnostic methods such as endoscopy, computed tomography and NMR are illustrated as well as the anatomical details of encephaloceles. Correct diagnosis prevents complications which can occur as a result of mistaking this lesion for a cyst or adenoids.

Diagnosis, Differential↗

PubMed1985

Multiple cerebral defects in an infant exposed in utero to anticonvulsants.

A female infant exposed in utero to anticonvulsant therapy had bilateral encephaloceles, ventricular abnormalities, and defective neuronal migration. This is one of a few articles with pathologic data available that discusses central nervous system involvement in infants exposed to anticonvulsants.

Abnormalities, Drug-Induced↗

PubMed1985

Bilateral morning glory syndrome with midline brain lesion in an autistic child.

A ten-year-old autistic boy with high myopia and very poor vision presented a bilateral anomaly of the disc, diagnosed as morning glory syndrome. Further investigation showed an absence of the corpus callosum and probably herniation of an encephalocele into the third ventricle. The association of bilateral morning glory syndrome and very low visual acuity in both eyes with a midline brain lesion and autism has not been previously described.

Agenesis of Corpus Callosum↗

PubMed1985

Intracranial sonography in infancy.

Neonates and older infants were subjected to sonography through the anterior fontanelle with grey-scale compound scanner. The patients were referred to us from neurosurgery or showed clinical symptoms of perinatal CNS damage (ventricular or intracerebral haemorrhage, subdural effusion, etc.) or malformations (meningomyelocele, encephalocele, cystic brain, cerebral dysgenesis, etc.). Sonography is the simplest non-invasive diagnostic method to exclude suspected hydrocephalus in cases of macrocephalus, or when the head of premature infants grows more rapidly than the rest of the body. When screening showed alterations, sonography was performed weekly or fortnightly according to the extent of deviation from the normal. In cases of progressive hydrocephalus, when shunt surgery was indicated, ultrasound was used to monitor the operation of the shunt. In early age, ultrasound is a tool equal in value to CT, but is far less expensive and the examination can safely be repeated at any time.

Brain↗

PubMedDate not supplied

Brain pathology in the Meckel syndrome: a study of 59 cases.

The Meckel syndrome (MS), relatively frequent in Finland, has been subjected to a nationwide study regarding the spectrum of anomalies, diagnostic criteria and epidemiology. This report describes the observations made on brain pathology in the 59 cases in the series. 10 cases were studied neuropathologically after formalin fixation of the brain. A spectrum of CNS malformations was seen with craniorachischisis totalis at the most severe end and a partial defect of corpus callosum as the only abnormality at the mildest end of the malformative spectrum. The most consistent malformation was occipital meningo-encephalocele, observed in 90% of the cases. Absence of olfactory bulbs was almost as frequent, while only two cases with a telencephalic holosphere were observed. Defects in midline commissuration (including absent or incomplete corpus callosum), associated with absence of the lateral ventricles, represented the third group of malformations common in MS. Polymicrogyria, heterotopias and characteristic, neuroepithelial rosettes were frequent microscopic features. Brain pathology in the Meckel syndrome thus displays a wide malformative spectrum with disturbances in both dorsal and ventral induction as well as in proliferation and migration. These findings suggest a heterochronic pathogenesis compatible with the genetic nature of this syndrome.

Abnormalities, Multiple↗

PubMed1975

[Contribution to information and genetic counseling in Mekkel's syndrome (author's transl)].

The deformity syndrome nowadays named after Meckel is characterized by the following principal features: occipital encephalocele, cystic kidneys and a polydactyly. According to the available findings in twins and families, an autosomal recessive lethal syndrome is involved. In 8 (= 16.6%) of 48 families, the parents of the feature carrier were blood relations. Heterozygous anlage carriers cannot yet be recognized as such. To make a statement in genetic counselling today, ultrasonic diagnosis and an amniocentesis must be carried out early in a pregnancy at risk.

Abnormalities, Multiple↗

PubMed1984

[Descriptive epidemiologic study of congenital abnormalities of the central nervous system in Spain (1976-1982)].

Authors present an epidemiologic study of the five most frequent congenital birth defects of the central nervous system: anencephaly, spina bifida, encephalocele, hydrocephaly and microcephaly. Over a total of 409 liveborns with some of these anomalies, gathered from 1976 to 1982 in 46 maternities spread all over Spanish geography, they analyze its prevalence at birth, temporary and geographical distribution, sex ratio, gestational age, birth weight and maternal age. To analyze some of these variables they have separated different types of anomalies in three groups depending if they were present as an only defect (isolated), together with other defects in a not syndromic picture (associated), and forming part of a described syndrome (syndromes). This separation is an intention of forming homogeneous ethiopathogenic groups upon which epidemiologic methodology can be applied with assurance to interpret results in a right way.

Anencephaly↗

PubMed1984

[A median craniofacial malformation: schizoprosopia. Apropos of 4 cases].

Four cases of a median craniofacial malformation, schizoprosopia, are reported. This rare but compatible with life anomaly is included within the group of neurocristopathies of the nasofrontal bud. Patients affected present signs of more or less severe mediofacial division with, in some cases an associated encephalocele or cranial bone defect. The possible presence of an associated hypopituitarism must be investigated routinely, and substitutive hormone therapy combined with surgical treatment of the various malformations when results are positive.

Abnormalities, Multiple↗

PubMed1980

Ocular defects and short stature.

The presence of ocular anomalies in a short child raises the possibility of hypothalamic-pituitary dysfunction or other intracranial abnormalities. The ocular, endocrine and neurologic findings in three children with short stature are described in this article. The first child had a large basal encephalocele, agenesis of the corpus callosum, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had Rieger's anomaly. All had deficient or abnormal growth hormone responses and two of the children had other pituitary hormonal abnormalities. It is suggested that an arrest of development during organogenesis can produce a spectrum of abnormalities involving ocular, endocrine and neurologic structures. Early diagnosis is important so that endocrinologic and neurologic investigations can be undertaken and appropriate therapy implemented.

Adolescent↗

PubMed1977

Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of U.K. collaborative study on alpha-fetoprotein in relation to neural-tube defects.

Nineteen centres collaborated in a study to determine the efficiency of maternal serum-alpha-fetoprotein (A.F.P.) measurement as a method of screening for neural-tube defects (N.T.D.S.) between 10 and 24 weeks of pregnancy. Data were collected on 18 684 singleton pregnancies and 163 twin pregnancies without fetal N.T.D.s, and on 301 singleton pregnancies with fetal N.T.D.s (146 with anencephaly, 142 with spina bifida, and 13 with encephalocele). The best time for detecting open spina bifida by measuring maternal serum-A.F.P. is at 16-18 weeks of pregnancy. In clinical practice, serum-A.F.P. cut-off levels expressed as multiples of the normal median may be more convenient to use than percentiles because they are easier to derive and more stable. Also, the proportion of affected pregnancies with serum-A.F.P. levels exceeding a given multiple of the median is unlikely to vary significantly from centre to centre or over time. In contrast, the proportion of unaffected pregnancies with A.F.P. levels exceeding a given multiple of the normal median will vary depending on the precision with which serum-A.F.P. and gestation are measured. At 16-18 weeks of pregnancy 88% of cases of anencephaly, 79% of cases of open spina bifida, and 3% of unaffected singleton pregnancies had A.F.P. levels equal to or greater than 2-5 times the median for unaffected singleton pregnancies. At this gestation age the numbers of unaffected pregnancies with A.F.P. levels above 2-5 times the normal median can be reduced by about a third if women with borderline A.F.P. levels are retested, although this would not greatly change the detection-rate of affected pregnancies. In the United Kingdom as a whole, women with serum-A.F.P. levels above 2-5 times the normal median at 16-18 weeks of gestation will have an approximately 1-in-20 chance of having a fetus with open spina bifida; the risk of having any N.T.D. will be approximately 1 in 10. The results of this study indicate that screening pregnant women by measuring the concentration of A.F.P. in their serum is an effective method of selecting women for ultrasonography and amniocentesis so that N.T.D.s can be diagnosed in utero.

Anencephaly↗