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At least 199 records · Page 11Linked to original sources
PubMed1979

The prognosis of occipital encephalocele.

147 cases of occipital cranium bifidum have been followed: 32 had meningoceles and 115 encephaloceles. Females predominated (69%). 90% of the meningocele and 43% of the encephalocele patients survived. Of the former 48% are normal and 16% are both physically and mentally handicapped. Of the latter only 4% are normal and 26% are physically and mentally handicapped. Cerebral tissue in the sac and associated microcephaly are bad prognostic features.

Encephalocele↗
PubMed1980

Occipital encephalocele in an adult.

Most encephaloceles are seen in children shortly after birth. An unusual case is reported in which a Nigerian male with an occipital encephalocele was first seen with this malformation at the age of 43 years. The significance of the operative findings is also discussed.

Adult↗
PubMed1993

A case of occipital encephalocele combined with right lung aplasia in a twin pregnancy.

A case of occipital encephalocele combined with right-sided pulmonary agenesis in one sibling of a twin gestation is presented. Both, encephalocele and lung aplasia, are rare conditions, the former occurring with a frequency of 1:3000-1:30,000, the latter in 1:10,000-1:30,000. Although both conditions may show concomitant malformations, to our knowledge this is the first case of a combination of these two malformations to be reported.

Adult↗
PubMed1996

A case of achondrogenesis type IA with an occipital encephalocele.

We report on a case of achondrogenesis type IA (Houston-Harris) with an occipital encephalocele. Prenatal sonograms revealed polyhydramnios, subgaleal edema, microcephaly, a narrow thorax, pericardial effusion, and a severe short-limbed dwarfism with unossified tubular bones and vertebral bodies. Postmortem examination demonstrated additional findings of hydrops fetalis, a membranous calvarium with a defect, an occipital encephalocele, hypoplastic lungs, and wedge-like tubular bones. Whole body radiography revealed no ossification of the bones except some small identified foci of calcification in the base of the skull, clavicles, and pelvic bones. Histological examination of the growth plate showed hypercellularity and enlarged vacuolated chondrocytes with PAS-positive diastase-resistant cytoplasmic inclusions. Various abnormalities have been reported in association with achondrogenesis type IA, however, an associated neural tube defect has not previously been described in the literature. We report on an infant with both of these disorders.

Abnormalities, Multiple↗
PubMed1996

A method of treatment for persisting cerebellar encephalocele of the temporal bone.

Temporal lobe herniation or meningoencephaloceles through the tegmen bone are rare entities but are well-described lesions in the literature. They can be successfully approached through the middle fossa alone or combined with a transmastoid approach, and are repaired with fascia, bone, or cartilage. However, cerebellar encephaloceles penetrating the posterior fossa dural plate and presenting as pulsatile postauricular mass are rare. In this paper, we report successful treatment of a cerebellar encephalocele by cranialization of the mastoid cavity using a calvarial bone graft and closure of the external auditory canal. A prior suboccipital approach, as recommended by others, had failed. The patient has remained well for 1 year with no recurrence.

Case Reports↗
PubMed1977

Hemangioma thrombocytopenia syndrome. A case masquerading as an encephalocele.

The association of hemangioma and thrombocytopenia has been recognized since 1940. We cared for a newborn boy whose hemangioma resembled an occipital encephalocele. The true diagnosis was suspected only when his platelet count dropped to 3,000/cu mm with severe intestinal hemorrhage on the third day of life. The diagnosis was confirmed by arteriography. The hemangioma was excised surgically, and the platelet count returned quickly to normal. The baby has done well subsequently. When feasible, surgical excision of the platelet-trapping hemangioma is the treatment of choice in the hemangioma thrombocytopenia syndrome.

Diagnosis, Differential↗
PubMed1996

Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients.

The combination of MURCS association (Müllerian duct and renal agenesis, upper limb and rib anomalies) and occipital encephalocele occurred in a stillborn girl of 41 weeks gestation. The malformations are compatible with a defect in the organization of the paraxial mesoderm that gives rise to occipital, cervical, and thoracic somites and adjoining intermediate mesoderm. These structures contribute to the occipital bone, cervical spine, upper limbs, and urogenital system. Brain imaging may be useful in assessing MURCS patients, if cranial malformations prove to be clinically important in these individuals.

Abnormalities, Multiple↗
PubMed2002

Four cases with hypoplastic thumbs and encephaloceles.

We report on four infants with hypoplastic thumbs and occipital encephaloceles. None had either a chromosome abnormality or a family history of any major malformation. The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations might represent a new genetic syndrome.

Adult↗
PubMed1985

Anencephaly in one monoamniotic-monochorionic twin and encephalocele in the other.

This is a report of monoamniotic-monochorionic (ie, probably MZ) twins, one of which had anencephaly, whereas the co-twin died of complications of prematurity. Autopsy in this seemingly nonmalformed twin showed a small encephalocele. The literature on MZ twins with discordant anencephaly is often contradictory. It is suggested that this might be due to the difficulty of determining zygosity on the one hand and identifying discordance or concordance on the other. This case is presented as an example of this difficulty; it is discordant with respect to anencephaly, but concordant in the sense of "dysraphic" disturbances.

Anencephaly↗
PubMed1987

Fetus with asymmetric parietal encephalocele, and hydrops secondary to laryngeal atresia.

We describe a fetus with an asymmetric, nonmidline, parietal encephalocele that appeared to result from "expulsion" through the center of the membranous bone; the fetus also had laryngeal atresia, which caused pulmonary overdistension (fetal Valsalva maneuver) with consequent hydrops fetalis. A common cause and clear pathogenetic relationship between these anomalies is not apparent.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital middle ear encephalocele initially seen with facial paresis.

Congenital middle ear encephalocele (CMEE) is a rare entity, previously reported in only 29 patients. It might originate from dehiscence of the tegmen tympani or antri or the bony plate of the posterior fossa. The common presenting symptoms are spontaneous cerebrospinal fluid (CSF) otorrhea and/or rhinorrhea, persistent "serious otitis media," conductive hearing loss, and, occasionally, recurrent meningitis. We report a case of CMEE initially seen with progressive facial paresis, review the previously reported cases of CMEE, and discuss the pathogenesis and surgical management.

Cerebrospinal Fluid Otorrhea↗
PubMed1983

Cystic hygroma simulating an encephalocele.

An ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance.

Adult↗
PubMed1992

Early second-trimester sonographic appearance of occipital haemangioma simulating encephalocele.

Encephalocele is the most common cause of occipital midline extracranial mass associated with hydrocephalus. A case is presented where an occipital extracranial mass associated with hydrocephalus which was detected on second-trimester ultrasound examination turned out to be a haemangioma, a relatively benign lesion. We suggest that haemangioma should be considered in the differential diagnosis of extracranial masses detected prenatally.

Abortion, Therapeutic↗
PubMed2003

Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p.

We present the first case of a fetus with pure tetrasomy 20p proven by cord-blood sampling at 24 weeks of gestation. This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet. An analysis of GTG-banded chromosomes of 20 metaphase cells was performed. Female karyotype [47,XX, +i(20)(p10)] was revealed in all cells. Pure tetrasomy 20p was confirmed using fluorescent in situ hybridization (FISH) with a telomere probe for chromosome 20p in all seven metaphase cells. The pregnancy was terminated because of associated multiple anomalies and severe oligohydramnios. The postmortem examination confirmed the prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1985

Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure.

Fetal exposure to primidone was associated with Goldenhar syndrome, hemifacial microsomia, tetralogy of Fallot, aqueductal stenosis, and anterior encephalocele in this male infant. No similar cases in anticonvulsant-exposed pregnancies were found on literature review, despite the increased incidence of other anomalies following such exposure. Goldenhar syndrome, especially related to rare central nervous system anomalies, is reviewed. Experimental production of hemifacial microsomia by a folic acid antagonist, triaxene, is mediated via hemorrhage in the fetus. Intraventricular hemorrhage was noted in this infant as were dilated lateral and third ventricles. The hemorrhagic diathesis and/or the folic acid depletion of newborns following fetal anticonvulsant exposure may have been the underlying mechanism.

Adult↗