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PubMed1988

Clinical, genetic, and epidemiological factors in neural tube defects.

We examined clinical, genetic, and epidemiologic factors among 512 probands with nonsyndromal neural tube defects (NTDs). Data were analyzed after grouping the probands in four different ways with respect to pathological features and putative pathogenic mechanisms. Apparently unrelated congenital anomalies occurred more frequently among probands with craniorachischisis (62%), encephalocele (30%), or multiple NTDs (25%) than among probands with anencephaly (14.7%) or spina bifida (10.1%) (P much less than .0001). Unrelated congenital anomalies occurred less often among probands with low spina bifida (6.7%) than among probands with high spina bifida (19.5%). NTDs were seen in 7.8% of the siblings of probands with high spina bifida but in only 0.7% of the siblings of probands with low spina bifida, in 2.2% of the siblings of anencephalic probands, and in none of the siblings of probands with craniorachischisis, encephalocele, or multiple NTDS (P less than .001). In all 16 families in which two siblings had NTDs, both had either defects of the type associated with abnormal primary neurulation or defects of the type associated with abnormal canalization. High spina bifida and multiple NTDs were found more frequently than expected among the Sikh probands (P less than .02). The frequency of non-NTD congenital anomalies was higher among siblings of Sikh probands (8.8%) than among siblings of other probands (2.4%) (P less than .05). This excess was due to the occurrence of hydrocephalus without spina bifida in four of 68 siblings of Sikh probands.

Adult↗

PubMed1976

[Diencephalic cyst--in relation to other midline dysraphism (author's transl)].

The abnormal midline cyst of diencephalic origin was termed "diencephalic cyst" by Brocklehurst in 1973. Since then, several case reports of so-called "diencephalic cyst" have appeared, but its clinical picture, especially its relation to other midline dysraphisms, does not seem to be well understood. Our experience with four cases of so-called "diencephalic cyst" were reported and their relation to holoprosencephaly as well as simple agenesis of corpus callosum was discussed. (1) In all of these cases, there was an abnormal space in the midline which freely communicated with the lateral ventricle. In the first two cases, their clinical pictures as well as the features of contrast studies were typical of alobar holoprosencephaly. In the third case, the absence of the olfactory tract, the incompletely separated cerebrum, and the monoventricle were confirmed at autopsy. In the last case, the ventricle was also incompletely separated. From these observations, such a malformation should better be considered as a variant of holoprosencephaly, and it would not be appropriate to classify this malformation, as Brocklehurst claimed, as "a maldevelopment lying between the group associated with anterior neuropore closure and prosencephalization (anterior encephaloceles and holoprosencephaly) and the group associated with maldevelopment of the hind brain (cerebellar and fourth ventricle encephaloceles and Dandy-Walker cyst of the rhombencephalon)." (2) This malformation is apparently formed before the 40 mm stage of the embryo, since by this time the diencephalic roof has already sunk to the level of the adult form. This maldevelopment should be clearly differenciated from simple agenesis of the corpus callosum which is formed after the 60 mm stage of the embryo. In simple agenesis of the corpus callosum, the deep venous system might take an abnormal course, but is well formed, whereas in holoprosencephaly or so-called "diencephalic cyst", the internal cerebral vein as well as the straight sinus and the inferior sagittal sinus is absent. (3) In all of our cases, there was an abnormal space posterior and inferior to the elevated lateral sinus. Autopsy done in two cases revealed that this abnormal space was a Dandy-Walker cyst in one case, the the dorsal sack of diencephalic origin in the other case. The latter case tells that in the cases of holoprosencephaly the lateral sinus does not necessarily mark the boundary between the cerebrum and the cerebellum. (4) "Diencephalic cyst" often accompanies severe hydrocephalus. However, even with successful surgical treatment of hydrocephalus, the outcome of intelligence in these cases would be grave.

Agenesis of Corpus Callosum↗

PubMed1994

Spina bifida: anticonvulsants and other maternal influences.

At least two maternal conditions have been shown to be associated with an increased risk for the occurrence of anencephaly, spina bifida and encephalocele: insulin-dependent diabetes mellitus in the mother and maternal epilepsy for which anticonvulsant treatment is being used. Of 147 infants born at the Brigham and Women's Hospital with anencephaly, spina bifida and encephalocele among 123,489 live-born, still-born and elective terminations surveyed, 7.5% were infants of insulin-dependent diabetics and 0.7% had been exposed to anticonvulsants in utero. In addition to these proven causal associations neural tube defects have been postulated by some, but not all, studies as being more common among infants exposed to hyperthermia in utero and to drugs used to induce ovulation.

Anticonvulsants↗

PubMedDate not supplied

Imaging of facial anomalies.

Anomalies of the face may occur in its lower or middle segments. Anomalies of the lower face generally involve the derivatives of the branchial apparatus and therefore manifest as defects in the mandible, pinnae, external auditory canals, and portions of the middle ears. These anomalies are occasionally isolated, but most of them occur in combination with systemic syndromes. These anomalies generally do not occur with respiratory compromise. Anomalies of the midface may extend from the upper lip to the forehead, reflecting the complex embryology of this region. Most of these deformities are isolated, but some patients with facial clefts, notably the midline cleft syndrome and holoprosencephaly, have anomalies in other sites. This is important because these patients will require detailed imaging of the face and brain. Anomalies of the midface tend to involve the nose and its air-conducting passages. We prefer to divide these anomalies into those with and without respiratory obstruction. The most common anomalies that result in airway compromise include posterior choanal stenoses and atresias, bilateral cysts (mucoceles) of the distal lacrimal ducts, and stenosis of the pyriform (anterior) nasal aperture. These may be optimally evaluated with computed tomography (CT) and generally require immediate treatment to ensure adequate ventilation. Rare nasal anomalies that also result in airway obstruction are agenesis of the pharynx, agenesis of the nose, and hypoplasia of the nasal alae. Agenesis of the nasopharynx and nose are complex anomalies that require both CT and magnetic resonance imaging (MRI). The diagnosis of hypoplasia of the nasal alae is a clinical one; these anomalies do not require imaging studies. Besides facial clefts, anomalies of the nose without respiratory obstruction tend to be centered around the nasofrontal region. This is the site of the most common sincipital encephaloceles. Patients with frontonasal and nasoethmoidal encephaloceles require both CT and MRI. In these patients, imaging of the brain is essential. Patients with suspected extranasal, intranasal, or mixed heterotopia may need images with CT or MRI or both. The last of the anomalies in this region is the presence of ectodermlined tracts and sinuses that may or may not be accompanied with masses. When these masses are located in the midline, they are almost always dermoids, whereas masses located off-midline may also be epidermoids. This latter group of anomalies is important because of its potential communication with the intracranial contents and the possibility of infection. Adequate imaging may require both CT and MRI. Midline facial clefts may be divided into common and complex. Common clefts represent the great majority and are isolated cosmetic defects that generally do not require imaging studies. Complex facial clefts with hypertelorism are almost always a part of the holoprosencephalies; imaging of the brain is more important than is imaging of the cleft proper. The studies should be obtained with MRI. Complex facial clefts in the presence of hypertelorism are most likely related to the midline cleft syndromes. This very rare and intricate group of disorders is generally accompanied with severe brain and eye anomalies. Imaging of these patients is better performed with both CT and MRI. We review common and uncommon facial anomalies. We have tried to approach them according to their clinical importance by dividing them into those with and without airway compromise.

Face↗

PubMed1997

Capillary hemangioma of the neck: prenatal MR findings.

Prenatal MR findings of a case of extracranial capillary hemangioma simulating an encephalocele at sonography are reported. MR imaging had an adjunctive diagnostic role in excluding the possibility of an encephalocele. The capillary hemangioma had diffuse T2 hypointensity prenatally, which is atypical of postnatal imaging findings.

Adult↗

PubMed1998

[Preliminary examinations on the effects of the breed characteristic feature "feather crest" on skull and brain anatomy of domestic ducks (Anas platyrhynchos f. dom.)].

As mentioned in older sources, the crested breed of the domestic duck is described as variety with high pre- and postnatal mortalities, malformations in skull and brain anatomy, and several central nervous deficiencies in affected birds. Therefore this breed is to be called defective and abnormal in the sense of section 11b of the German protection of animals legislation. Poultry fanciers reject these findings as incorrect, but accurate scientific examinations that bear out this allegation are not available. Preliminary examinations have demonstrated that brain and skull anatomy of living animals can be described by using non-invasive diagnostic techniques (magnet-resonance-imaging, computerized tomography, radiography). The use of this progressive methods enables to expressive findings on present stocks of domestic ducks. Many of the test animals investigated in preliminary examinations by using magnet-resonance-imaging and radiography showed abnormal tissue deposits in the tentorium cerebelli, meningo-encephalocele, cranial malformations, and variable bone formations in the thickened hypodermis of the crest. If crested ducks are mated against each other, numerous offspring show malformations of upper beak and cranium, encephalocele, as well as craniopagal parasites in form of rudimentary legs.

Animals↗

PubMed1983

CSF polyamines in childhood.

Specimens of CSF from 76 children without neurologic disease and from 191 children with neurosurgical conditions were assayed for polyamine content. Putrescine and spermidine concentrations decreased with age. In children with intracranial tumors, polyamine concentrations in lumbar CSF were comparable with those in ventricular CSF. Putrescine level was significantly increased in children with medulloblastomas. Spermidine level was increased in children with medulloblastomas, glioblastomas, and astrocytomas. Concentrations of putrescine and spermidine were significantly increased in infants with myelomeningocele and hydrocephalus. Spermidine concentrations were significantly increased in older children with myelomeningocele, encephalocele, and hydrocephalus. Polyamines thus seem to be increased by rapid cell proliferation and by disorders affecting myelination. Since putrescine and spermidine concentrations may be of use in monitoring tumor progression, the effects of childhood growth and of hydrocephalus must be considered for children whose brain tumors are associated with hydrocephalus.

Age Factors↗

PubMed1994

Morning glory syndrome in children. Association with endocrine and central nervous system anomalies.

OBJECTIVE: To identify morning glory syndrome, an uncommon optic disc anomaly. Generally, it is an isolated ocular abnormality; however, some cranial facial and neurologic associations have been reported. PATIENTS: We herein report two patients with morning glory syndrome and associated pituitary dwarfism. In one patient, the pituitary insufficiency was secondary to compression of the pituitary gland by a basal encephalocele; in the second patient, causative factors were not identified. CONCLUSIONS: Patients with morning glory syndrome should have a complete general physical examination and growth evaluation so that early recognition and treatment of the patient with pituitary dwarfism can occur.

Abnormalities, Multiple↗

PubMed1978

So-called hairy polyps or teratoid tumors of the nasopharynx.

Two new cases of hairy polyp of the nasopharynx, one with congenital atresia of the left carotid artery, are added to 111 cases that have already been reported. Unlike trigerminal neoplastic teratomas, the hairy polyps are derived from two germ cells, the ectoderm and mesoderm. They are composed of a conglomeration of disorganized and disorderly tissues that form a sessile to a pedunculated mass that is attached to the nasopharynx. They are strictly developmental anomalies in early embryogenesis with very limited growth potential. We discuss their clinical features, diagnosis, and development. In an evaluation of any nasopharyngeal mass in the newborn, consideration should be given as to whether the mass arises in the nasopharynx or is an extracranial extension of glioma or encephalocele.

Adolescent↗

PubMed2002

Developmental field defects: coming together of associations and sequences during blastogenesis.

We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis "associations." One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous.

Abnormalities, Multiple↗

PubMed1983

Brief clinical report: HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance.

We report on two sibs with hydrocephalus, encephalocele, agyria and ocular anomalies, an association known as the HARD +/- E syndrome. This is thought to be the sixth reported family and third instance of familial occurrence of this autosomal-recessive syndrome which deserves consideration in the nosology of every case of neural tube defect (hydrocephalus).

Abnormalities, Multiple↗

PubMed1984

The Meckel syndrome: clinicopathological findings in 67 patients.

A nationwide study on the Meckel syndrome (MS) was carried out covering retrospectively the years 1970-1979 and prospectively the years 1980-1981. Sixty-seven cases from 48 Finnish families were found. The clinical and pathological findings were studied. Cystic dysplasia of the kidneys was present in all the cases where sufficient information was available. In all 41 cases with specimens available from the liver, a typical fibrotic change with proliferation and dilatation of the bile ducts was found. This series and a review of the literature give convincing evidence that cystic dysplasia of the kidneys with fibrosis of the liver is a constant finding in the "true" Meckel syndrome. In conclusion, it is proposed that cystic dysplasia of the kidneys with fibrotic changes of the liver and occipital encephalocele or some other central nervous system malformation are considered as minimal diagnostic criteria of MS. Thus, a histologic investigation of the kidneys and liver is essential in diagnosing MS in doubtful cases. Heterozygote manifestations were not found.

Abnormalities, Multiple↗

PubMed1984

Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.

We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1986

An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.

Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of Smith-Lemli-Opitz syndrome, ocular coloboma, and hypoplastic kidneys with a single cyst. The other sister died at 18 months and had an encephalocele and cystically dilated collecting ducts in the renal medulla. Although the manifestations in these two sisters are similar to the Smith-Lemli-Opitz and Meckel syndromes respectively, there are sufficient differences to suggest that they had a separate autosomal recessive MCA-MR syndrome.

Adolescent↗

PubMed1987

Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.

Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip and cleft palate and intrauterine growth retardation, findings not previously noted in this condition.

Abnormalities, Multiple↗

PubMed1987

Pathology of renal and hepatic anomalies in Meckel syndrome.

We describe 9 cases of Meckel syndrome (dysencephalia splanchnocystica), ranging in gestational age from 17 to 39 weeks. Five were liveborn, and the longest survival was 30 hours. Six of the 9 had all 3 elements of the classically defined triad, namely occipital encephalocele, renal cystic dysplasia, and postaxial polydactyly. The remaining 3 cases had only 2 elements of the triad. The renal abnormalities in the 9 cases resembled one another closely, varying only slightly in severity. They consisted of renal cystic dysplasia with different degrees of nephronic differentiation. The 8 available livers all contained intrahepatic bile duct anomalies. Seven of them had the classic "ductal plate malformation," as defined by Jorgensen [1977]; the remaining case had a less severe form of this malformation. The livers of the Meckel syndrome fetuses were compared to those of age-matched control fetuses, and it was concluded that the hepatic abnormality represents an arrested development of the intrahepatic biliary system at the stage of biliary cylinders with varying degrees of reactive bile duct proliferation, bile duct dilatation, portal fibrosis, and portal fibrous vascular obliteration superimposed on the arrested pattern. The case showing the least severe hepatic lesion also had the least severe renal lesion. The anomalies that were present are listed. The relationship of the different lesions to each other is briefly discussed. It was concluded that the hepatic lesion appears to be a consistent manifestation in Meckel syndrome and is of diagnostic value as the renal lesion has previously been shown to be.

Abnormalities, Multiple↗

PubMed1991

Dandy-Walker malformation in the Meckel syndrome.

The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.

Abnormalities, Multiple↗

PubMed1992

Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap.

In a fetopathologic evaluation of 18 cases with amniotic bands, we discerned 3 types of lesions: (1) constrictive tissue bands, (2) amniotic adhesions, and (3) more complex anomaly patterns, designated as limb-body wall complex (LBWC). Constrictive bands are caused by primary amnion rupture with subsequent entanglement of fetal parts (mostly limbs) by shriveled amniotic strands. Adhesive bands are the result of a broad fusion between disrupted fetal parts (mostly cephalic) and an intact amniotic membrane. Most of the craniofacial defects (encephaloceles and/or facial clefts) occurring in these fetuses are not caused by constrictive amniotic bands, but are the result of a vascular disruption sequence with or without cephalo-amniotic adhesion. Our observations confirm the fact that amnion rupture is not a conditio sine qua non for the development of LBWC. However, LBWC is often complicated by rupture of the unsupported amnion with ensuing formation of constrictive bands. We think that the concept that considers the 3 lesions in question as a single pathogenetic entity is erroneous and will inevitably lead to a never-ending debate between followers of the 2 prevailing theories. In our view, the theories of Streeter and Torpin are not mutually exclusive but rather apply to different types of lesions. The recognition of constrictive amniotic bands, amniotic adhesions, and LBWC as discrete but often combined disruption sequences with important pathogenetic overlap may resolve many dilemmas in interpretation when a fetus exhibits classical constrictive bands beside more severe defects.

Amnion↗