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PubMed2004

Neurosurgical reconstruction with acellular cadaveric dermal matrix.

Acellular cadaveric dermal matrix (ACDM) is processed from human cadaver skin (AlloDerm; Life Cell Corp., Branchburg, NJ). It does not require an immediate blood supply but can transmit essential interstitial fluids for nourishment of overlying tissues. A number of neurosurgical reconstructions have required the use of tissue that fills these specifications. The material has been used most recently for reconstruction of dura during craniotomies when primary closure is not possible or harvesting from an autologous site is not available. Because ACDM is harvested from nonneurologic cadaveric tissues and because the cellular and antigenic elements have been removed from the matrix, prion diseases are not a transmission risk. We present 6 examples of previously unreported uses of ACDM for successful repair of meningomyelocele, cauda equina, encephalocele, cerebrospinal fluid fistula, and neuroma. We propose the use of ACDM as a valuable tool in neurosurgical reconstruction.

Adult↗

PubMed1979

Prenatal diagnosis of the Meckel syndrome.

Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, polydactyly, and bilateral polycystic kidneys. This case report emphasies the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosed in utero.

Abnormalities, Multiple↗

PubMed1981

Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter).

We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with the chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.

Abnormalities, Multiple↗

PubMed1990

Phenotypic variability in Meckel-Gruber syndrome.

Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.

Chromosome Aberrations↗

PubMed1991

Antenatal ultrasonic diagnosis of Meckel Gruber syndrome (a case report with review of literature).

Meckel Gruber syndrome is a rare autosomal recessive disorder with major characteristic features consisting of occipital encephalocele, polydactyly and polycystic kidneys along with other associated malformation. Antenatal ultrasonic examination can establish the correct diagnosis by identifying at least two of the major features described. The antenatal ultrasonic findings and pathology of this uncommon entity are discussed.

Abnormalities, Multiple↗

PubMed1979

Central nervous system defects in early human abortuses.

Thirteen embryos with various central nervous system (cns) defects were examined macroscopically and by serial sectioning, and were compared with seven control embryos. All had been aborted spontaneously. Examples of anencephaly, anencephaly with spina bifida, spina bifida alone, encephalocele, iniencephaly and cyclops were found. Histological assessment was directed mainly to the cns, the skeletal axis, the neural-crest derivatives and remaining viscera. The cns was affected by postmortem change in some cases. Brain tissue was absent in most anencephalic embryos and spinal-cord tissue was absent at the level of the external lesion in all except one of the spina-bifida embryos. Defects such as diastematomyelia were found occasionally. Widespread abnormalities were found in the cartilaginous vertebral colun. The meninges were unusually vascular, but other neural crest derivatives appeared to be normal. The possible causes of absent brain or spinal cord are discussed and the findings are compared with the pathology of cns defects in childhood.

Abortion, Spontaneous↗

PubMed1980

Birth weight of infants with spina bifida cystica.

The mean birth weight of 189 singleton infants with spina bifida cystica (including 21 with encephalocele) was statistically significantly less than the mean birth weight of 3816 singleton infants without neural tube defects, 0.20 kg less among male infants and 0.24 kg less among female infants. Most, if not all, of this difference in birth weight was due to the spina bifida infants being light for their gestational age. The difference could not be explained by differences in parity or social class.

Birth Weight↗

PubMed1996

Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity.

A case with a severe midline craniofacial defect, comprising a midline cleft lip and palate with a sphenoethmoidal encephalocele, hypertelorism, bilateral dysplastic optic discs and agenesis of the corpus callosum is described. The optic discs are consistent with the spectrum of appearances seen in the Morning Glory Disc Anomaly (MGDA). This anomaly is usually a uniocular problem that may be rarely associated with craniofacial abnormalities. Despite this range of abnormalities this child was developing well with a specific motor delay at the age of eight months. Cases with similar midline craniofacial abnormalities from the literature are reviewed. This condition appears to be a distinct entity within the spectrum of frontonasal dysplasia.

Abnormalities, Multiple↗

PubMed1975

Intrauterine infection of mice with St. Louis encephalitis virus: immunological, physiological, neurological, and behavioral effects on progeny.

Intravenous injection of pregnant mice with St. Louis encephalitis (SLE) virus at 8 days of gestation resulted in infection of the fetus. Progeny developed no antibody or tolerance to SLE virus since the viral antigen was cleared by maternal antibody before antibody-forming competence developed in the young. Temporary growth retardation was observed in a number of young at 3 weeks of age. After the initial setback the growth rate increased, indicating that early runting was due to an inability to adjust adequately to extrauterine life, which was subsequently overcome. In most other young there were no significant effects on growth, reproduction, or life expectancy. A few young died at or shortly after birth; in these, neurological changes ranging from gross defects such as encephaloceles and hydrocephalus to histological evidence of necrosis and congestion were observed. Neurologically related behavioral changes were detected by using the open field test and the rotating-rod test, which indicated neurological damage and memory impairment in the surviving intrauterinely infected animals.

Animals↗

PubMed2000

Pregnancy in patients with Wegener's granulomatosis: report of five cases in three women.

Five cases of pregnancy occurring in three women with previously diagnosed Wegener's granulomatosis are described. The disease was diffuse in one case and localised in the other. Initial treatment consisted of a combination of corticosteroids and intravenous cyclophosphamide in two women, and methotrexate in one. Four pregnancies ended in live births despite pre-eclampsia in two cases. One therapeutic abortion was induced because of encephalocele. Comparable reported cases were reviewed to examine the implications of immunosuppressive treatment on the fetus. A relapse occurred during pregnancy in 40% of the cases, but in 25% if only pregnancies beginning during inactive disease were taken into account. No other indicator for maternal and fetal outcome was obvious. Pregnancy should be planned after complete disappearance of disease activity. In the case of a relapse a combination of immunosuppressive drugs and corticosteroids should be chosen rather than corticosteroids alone because the outcome of pregnancy is poor in cases of undertreatment. Prematurity remains common.

Abortion, Therapeutic↗

PubMed1986

Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review.

Warburg syndrome is a recently defined autosomal recessive oculocerebral syndrome. It was previously given the acronym HARD +/- E, indicating what were regarded as the pathognomonic features, namely hydrocephalus, agyria, and retinal dysplasia with or without encephalocele. We report the case of a male infant with the typical cerebral features of hydrocephalus, agyria, and pseudoencephalocele, but without retinal dysplasia. Peters' anomaly and optic nerve hypoplasia were the main ocular defects. We believe that anterior chamber defects and optic nerve hypoplasia are the ocular defects more directly related developmentally to the cerebral defects. Definition of ocular defects is important, since diagnosis and counselling rely heavily on ocular signs, which help to distinguish this syndrome from neural tube defects in general.

Abnormalities, Multiple↗

PubMed1986

Pseudoepiphora from cerebrospinal fluid leak: case report.

A 4-year-old tearing child with obstruction of the nasolacrimal duct was treated with dacryocystorhinostomy three years after naso-orbital injury. However, what appeared to be tearing persisted, and meningitis developed. Coronal CT scans demonstrated traumatic encephalocele of the posterior superior orbital roof. A chronic orbital cerebrospinal fluid (CSF) leak was diagnosed. To our knowledge no case of chronic CSF leak has been reported that simulated tearing in an otherwise asymptomatic child. In the tearing patient who has a naso-orbital fracture the possibility of chronic CSF leak should be considered.

Cerebrospinal Fluid↗

PubMed1978

Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.

A Pakistani couple, who were first cousins once removed through their fathers, and whose mothers were also related, had two liveborn children, a boy and a girl. Both children died within 2 hours of birth with occipital encephalocele, microcephaly, polycystic kidneys, and cystic distension of intrahepatic bile ducts. Both children had normal karyotypes. These abnormalities constitute Meckel's syndrome (dysencephalia splanchno-cystica); this is the fifth report of parental consanguinity, adding further support to the evidence for autosomal recessive inheritance of the disorder.

Consanguinity↗

PubMed1993

Upper and lower neural tube defects: an alternate hypothesis.

It has been suggested that neural tube defects (NTDs) of the upper type (anencephaly, encephalocele, and thoracic spina bifida) may have a pathogenesis different from those of the lower type (lumbosacral spina bifida), since recurrent cases within a sibship were said always to be concordant with respect to NTD type. Also, spontaneous abortion, additional malformation, and recurrence rate were observed to be higher in the upper group, and there was an excess of females in upper NTD probands. To test this hypothesis, we measured the above variables in upper and lower NTDs in a sample from Quebec. We found less than full concordance (50%) of NTD type in 18 sib pairs. Recurrence rate was not significantly lower in the lower NTD group (5.6 v 5.8%). The other variables were in general agreement with previous studies, inconsistent findings possibly attributable to different NTD population incidences. These findings can be accounted for if upper and lower NTDs share a similar pathogenesis and the embryo is more susceptible during early than late neural tube formation.

Anencephaly↗

PubMed1994

Meckel syndrome: what are the minimum diagnostic criteria?

Two sibs are described, the first of whom presented the classic Meckel syndrome triad of encephalocele, postaxial polydactyly, and characteristic renal cystic changes. The second sib had none of these abnormalities, but did show urethral atresia and preaxial polydactyly, two features previously described in some patients with Meckel syndrome. The two cases illustrate both the wide phenotypic spectrum of Meckel syndrome and the difficulty of attempting to define minimum diagnostic criteria for the disorder. The clinical implications arising from this problem are discussed.

Abnormalities, Multiple↗

PubMed1991

Fetal cephaloceles: diagnosis with US.

The prenatal sonograms of 15 fetuses with cephaloceles (13 occipital, one ethmoidal, and one frontoparietal) were retrospectively reviewed. The prognosis for fetuses with cephaloceles was poor: Only three of 14 with follow-up were born alive (21%), and all are likely to be handicapped. Karyotypes were abnormal in four of nine fetuses tested (44%). Associated cranial abnormalities observed in various numbers of fetuses included ventriculomegaly, the "lemon" sign, a flat basioccipital, "beaked" tectum, and bone defect. A wide variety of neural and nonneural anomalies were associated with cephaloceles. At least one sonographically observed concomitant neural or nonneural axis abnormality or an abnormal karyotype was present in nine of 15 fetuses (60%). Some associated neural malformations noted pathologically were not observed prenatally. Cranial meningoceles were not accurately distinguished from encephaloceles sonographically, and they also were associated with a poor prognosis. Comparison of findings in fetuses with cephaloceles with those of 15 fetuses with cystic hygromas revealed that the two abnormalities can usually be distinguished by the relationship of the mass with the neck and by other cranial findings present in fetuses with cephaloceles but absent in association with cystic hygromas.

Abnormalities, Multiple↗

PubMedDate not supplied

Amniotic band syndrome in triplet pregnancy.

We present a case of amniotic band syndrome leading to encephalocele in one triplet. In this case, discordance in fetal growth was observed at 9 weeks' gestation, and the amniotic membrane was not recognized in the sac of the smallest fetus. Thus, significant first-trimester growth discordance in multifetal pregnancies suggests congenital anomalies, and examinations considering amniotic band syndrome should be performed. Absence of the amniotic membrane in the gestational sac may be a useful marker of amniotic band syndrome.

Adult↗

PubMedDate not supplied

Prenatal diagnosis and elective termination of neural tube defects in Hawaii, 1986-1997.

OBJECTIVE: To determine the influence of various factors on the prenatal diagnosis and elective termination of neural tube defects (NTDs) in Hawaii in 1986-1997. METHODS: Data from a birth defects registry were analyzed and included 245 cases. RESULTS: 74% of the cases were prenatally diagnosed and 48% were terminated. Anencephaly was more likely to be prenatally diagnosed and electively terminated than spina bifida or encephalocele. Other factors such as maternal age, race/ethnicity, place of residence, and elevated maternal serum alpha-fetoprotein influenced the prenatal diagnosis and/or elective termination of NTD-affected pregnancies. However, a given factor may influence prenatal diagnosis and elective termination in different ways. CONCLUSIONS: Various diagnostic and demographic factors can influence the prenatal diagnosis and the subsequent termination of NTD-affected pregnancies.

Abortion, Induced↗