Occipital Encephalocele: Causes & Reasons

Possible Causes for Occipital Encephalocele

Most commonly an occipital encephalocele is seen. [fetalsono.com]

Meckel Gruber syndrome is the most common syndromic form of neural tube defect and the classic triad of clinical features is characterized by occipital encephalocele, cystic [dnatesting.uchicago.edu]

Keywords: Encephalocele, Meckel-Gruber syndrome, polycystic kidney, polydactyly Introduction Meckel-Gruber syndrome (MGS) is a triad of occipital encephalocele, large polycystic [ncbi.nlm.nih.gov]

Cystic Kidney Disease

Typical clinical signs are an occipital encephalocele, microphthalmia, bilateral dysplastic cystic kidneys and other malformations of the CNS. [neocyst.de]

Cystic kidney dysplasia, occipital encephalocele, and postaxial polydactyly were found in 100%, 90%, and 83.3% of the fetuses, respectively. [link.springer.com]

The occipital encephalocele usually comes through an apical defect of the occipital bone or enlarged posterior fontanelle. [ruralneuropractice.com]

Dandy-Walker Syndrome

It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele. [ncbi.nlm.nih.gov]

The common presenting symptom and associated central nervous system anomaly were enlargement of head and occipital encephalocele, respectively. [ncbi.nlm.nih.gov]

Seven had occipital encephalocele and in 1 of these there was an associated Klippel-Feil syndrome. [ncbi.nlm.nih.gov]

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

There was history of excision of occipital encephalocele and insertion of a ventriculo-peritoneal shunt at birth. [indianpediatrics.net]

KNOBLOCH SYNDROME 1; KNO1 Is also known as kno, retinal detachment and occipital encephalocele;knobloch-layer syndrome; retinal detachment-occipital encephalocele syndrome [mendelian.co]

encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006 ).For a more complete phenotypic description and information [mendelian.co]

Cranial Meningocele

Sagittal ultrasonogram through the fetal skull shows a small occipital encephalocele. [emedicine.medscape.com]

Encephalocele Findings: A predominantly cystic mass is seen protruding from the occipital region. [fetalsono.com]

A fairly common classification still widely used is that first described by Suwanwela and Suwanwela in 1972 which divides the encephaloceles according to location 4 : occipital [radiopaedia.org]

Encephalocele

Materials and methods Two children with giant occipital encephaloceles with herniation of significant brain parenchyma into the encephalocele sac were managed with expansile [link.springer.com]

This is the first case report of the association of an occipital encephalocele with a rare vascular tumor, i.e. papillary intralymphatic angioendothelioma. [ncbi.nlm.nih.gov]

The authors report a clinical case of an 80-year-old woman with primary occipital encephalocele on the right side and that was affected by trauma and presented liquor fistula [ncbi.nlm.nih.gov]

Occipital Encephalocele

Two children with giant occipital encephaloceles with herniation of significant brain parenchyma into the encephalocele sac were managed with expansile cranioplasty and reconstruction [ncbi.nlm.nih.gov]

Occipital encephaloceles are the most frequent type in North America and Western Europe, where about 85% of encephaloceles take this form. [ncbi.nlm.nih.gov]

Citation, DOI & case data Citation: Fateh R, Occipital encephalocele. [radiopaedia.org]

Aqueduct of Sylvius Anomaly

Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele Q01.8 Encephalocele of other sites Q01.9 Encephalocele, unspecified Q03 Congenital hydrocephalus Q03.0 Malformations [codelay.com]

Q01.0 Frontal encephalocele Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele Q01.8 Encephalocele of other sites Q01.9 Encephalocele, unspecified Q02 Microcephaly [icd10data.com]

Additional brain anomalies such as hypoplasia/agenesis of corpus callosum, occipital encephalocele and Dandy-Walker malformation have been described. [slideshare.net]

Nasal Encephalocele

Nasal encephalocele Nasofrontal encephalocele Occipital encephalocele Applies To Encephalocystocele Encephalomyelocele Hydroencephalocele Hydromeningocele, cranial Meningocele [icd9data.com]

[A] Large occipital encephalocele. [B] CT of the brain showing brain tissue protruding through an occipital bone opening. [pediatricneuro.com]

A baby with a large occipital encephalocele. [medical-dictionary.thefreedictionary.com]

Knobloch Syndrome Type 1

Synonyms Vitreoretinal Degeneration with Retinal Detachment, Occipital Encephalocele Syndrome; Knobloch-Layer Syndrome; Retinal Detachment and Occipital Encephalocele Syndrome [accessanesthesiology.mhmedical.com]

Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele. [ncbi.nlm.nih.gov]

Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, minor occipital changes in 2 patients, and no [ncbi.nlm.nih.gov]

Acalvaria

Carey Medicine American journal of medical genetics 1993 2 cases of acalvaria are described, one misdiagnosed ultrasonographically as an occipital encephalocele prenatally [semanticscholar.org]

We describe 2 cases of acalvaria, one misdiagnosed ultrasonographically as an occipital encephalocele prenatally. [ncbi.nlm.nih.gov]

Iniencephaly

A large occipital encephalocele protruded from the dorsal surface of the cranium secondary to a large defect in the occipital bone, and the frontal bone and left and right [indiana.pure.elsevier.com]

Q01.0 Frontal encephalocele Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele Q01.8 Encephalocele of other sites Q01.9 Encephalocele, unspecified Q02 Microcephaly [icd10data.com]

Hydroencephalocele; Hydromeningocele, cranial; Meningocele, cerebral; Meningoencephalocele Q01.0 Frontal encephalocele Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele [cdc.gov]

Aprosencephaly and Cerebellar Dysgenesis

Occipital encephalocele often contains vascular structures and is associated with Meckel-Gruber syndrome (autosomal recessive condition associated with occipital encephalocele [sites.google.com]

Fig. 9.2 Fetus with Meckel–Gruber syndrome identified at 12 weeks of gestation as demonstrated by TVS. ( a ) Occipital encephalocele; ( b ) note the presence of cleft lip [radiologykey.com]

It could be asymptomatic, but a large occipital encephalocele can be accompanied by mental retardation. [tankonyvtar.hu]

Isolated Arhinencephaly

encephalocele Q01.8 Encephalocele of other sites Q01.9 Encephalocele, unspecified Q02 Microcephaly Q03 Congenital hydrocephalus Q03.0 Malformations of aqueduct of Sylvius [icd10data.com]

MRI can detect renal size and occipital defects such as encephaloceles. [sinoemedicalassociation.org]

encephalocele. [documents.tips]

Pelviscapular Dysplasia

Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients. [ read more ] [nectarmutation.org]

encephalocele Broad forehead Cleft lip Microglossia Seizures Babinski sign Pes cavus Cerebral atrophy Cerebral cortical atrophy Decreased testicular size Kyphoscoliosis Osteoporosis [mendelian.co]

encephalocele Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Aqueductal stenosis Buphthalmos Cerebellar cyst Abnormality of the optic nerve Abnormal cortical [mendelian.co]

Mega-Cisterna Magna

This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet. [ncbi.nlm.nih.gov]

Isolated encephalocele: Lacks Chiari 2 Chiari 3 = Chiari 2 PLUS Occipital or cervical encephalocele containing cerebellum Syndromic occipital encephalocele Klippel-Feil, [neupsykey.com]

 Microcephaly Holoprosencephaly Head normal or small  Chiari Malforma3on ACC  Dia   Anencephaly Occipital Encephalocele Schizencephaly Schizencephaly Circle of Willis [slideshare.net]

Achondrogenesis

Abstract We report on a case of achondrogenesis type IA (Houston-Harris) with an occipital encephalocele. [ncbi.nlm.nih.gov]

Ultrasound diagnosis of achondrogenesis type II with an occipital encephalocele at 15 weeks gestation. Ultrasound Obstet Gynecol 2015; 46: 122-184. 7. [apjr.net]

A case of achondrogenesis type 1A with an occipital encephalocele. Genet Couns. 1996;7:193-9. [medigraphic.com]

Congenital Malformation of the Spine

encephalocele. [cdc.gov]

For example, large occipital encephaloceles containing solely or largely CSF may have an excellent prognosis, whereas those having large amounts of occipital lobe or brainstem [pediatrics.aappublications.org]

Chiari III malformation is serious though fortunately rare and may be diagnosed prenatally after identification of an occipital encephalocele containing herniated cerebellum [wjgnet.com]

Bilateral Vocal Cord Paralysis

[…] large subtorcular occipital encephalocele in neonate carries higher risk of associated hindbrain anomalies and secondary process for neurological deterioration which predict [ncbi.nlm.nih.gov]

Two neonates presented with inspiratory stridor due to bilateral vocal cord paralysis associated with occipital encephalocele, Chiari malformation, and hydrocephalus in one [ncbi.nlm.nih.gov]

The author presented a successful surgical strategy for management of a 4-month-old infant with a large subtorcular occipital encephalocele presented with bilateral vocal [ncbi.nlm.nih.gov]

Cervical Spina Bifida without Hydrocephalus

Hydroencephalocele; Hydromeningocele, cranial; Meningocele, cerebral; Meningoencephalocele Q01.0 Frontal encephalocele Q01.1 Nasofrontal encephalocele Q01.2 Occipital encephalocele [cdc.gov]

In iniencephaly, dysraphia in the occipital region is accompanied by severe retroflexion of the neck and trunk. [cdc.gov]

Encephalocele - Anencephaly

Palavras-chave : Anencephaly; Occipital encephalocele; Nervous system malformations. [revistasbolivianas.ciencia.bo]

Occipital encephaloceles are more common in Europe and North America, whereas anterior encephaloceles are more common in Southeast Asia, Africa, Malaysia and Russia. [shinecharity.org.uk]

Teratology 8:253–256 CrossRef PubMed CAS Google Scholar Karch SB, Urich H (1972) Occipital encephalocele: a morphological study. [link.springer.com]

Meckel Syndrome Type 13

Ultrasonographic findings of case 1 were (a) occipital encephalocele and (b) polycystic kidney. FIG. 3. [liebertpub.com]

Infants are often born with a neural tube defect called occipital encephalocele, brain malformations, facial dysmorphism, renal agenesis, and extra digits. [sema4.com]

There was an encephalocele measuring 12 × 3 cm in the occipital region of the abortus (Fig. 1). [surgexppathol.biomedcentral.com]

Meningoencephalocele

A baby with a large occipital encephalocele. From Mueller and Young, 2001. [medical-dictionary.thefreedictionary.com]

OUTCOME • Occipital encephalocele: The prognosis is better in occipital meningocele than in encephalocele. • Prognosis is worse if a cerebral tissue is present in the sac, [fr.slideshare.net]

Prenatal imaging of occipital Encephaloceles. Fetal Diagn Ther. 2014;37:241–8. Bir F. MRI and CT imaging of an Intrasphenoidal Encephalocele: a case report. [cnjournal.biomedcentral.com]

Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

You are donating to research for a rare disease: ' Lethal occipital encephalocele-skeletal dysplasia syndrome '. [react-community.org]

UniProtKB/Swiss-Prot : 76 Radiohumeral fusions with other skeletal and craniofacial anomalies: A disease characterized by craniofacial malformations, occipital encephalocele [malacards.org]

Occipital encephalocele is present in 60-80%. Postaxial polydactyly is present in 55-75%. [jfsmonline.com]

Meckel Syndrome Type 7

[citation needed] Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases [en.wikipedia.org]

Other additional findings which may vary from patient to patient (even within the same family) include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele [bredagenetics.com]

The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening [ghr.nlm.nih.gov]

Meckel Syndrome Type 9

encephalocele short extremities Abnormality of the nervous system Occipital encephalocele IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR [ncbi.nlm.nih.gov]

Similar to other MKS subtypes, the ciliopathy is characterized by the triad of occipital encephalocele, polydactyly and renal and biliary ductal dysplasia. [cags.org.ae]

Meckel-Gruber Syndrome (MKS) is a lethal, autosomal recessive neurodevelopmental condition characterized by a triad of symptoms which are occipital encephalocele, large polycystic [igenomix.fr]

Meckel Syndrome Type 8

Diagnostic methods Diagnosis may be made on fetal ultrasonography showing occipital encephalocele and dysplastic kidneys. [orpha.net]

It is characterized by multiple malformations, mainly large multicystic kidneys, occipital encephalocele (which may cause hydrocephalus), hepatic involvement, and polydactyly [semanticscholar.org]

Occipital encephalocele Ear malformation Low-set ears IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide [ncbi.nlm.nih.gov]

Meckel Syndrome Type 6

encephalocele Postaxial hand polydactyly Abnormality of the nervous system Anencephaly Hydrocephalus Occipital encephalocele Abnormality of the respiratory system Pulmonary [ncbi.nlm.nih.gov]

An occipital encephalocele measuring 20 x 20 mm (Figure 1b) was present. [heighpubs.org]

Meckel syndrome, type 6 (MKS6) is a severe congenital disorder defined by the presence of occipital encephalocele, cystic dysplasia of the kidneys, hepatic fibrosis and bile [cags.org.ae]

Meckel Syndrome Type 4

We have reported a male baby born at 37-week gestation, who has occipital encephalocele, polydactyly and cystic dysplasia of both kidneys. [ejgm.co.uk]

Infants are often born with a neural tube defect called occipital encephalocele, brain malformations, facial dysmorphism, renal agenesis, and extra digits. [sema4.com]

encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). [ncbi.nlm.nih.gov]

Meckel Syndrome Type 3

NM_153704.6:c.2306del Homozygous Autosomal, Recessive Shaheen et al. 2013 607361.12 Arab Male Yes Microcephaly; Occipital encephalocele; P... [cags.org.ae]

Ultrasonographic findings of case 1 were (a) occipital encephalocele and (b) polycystic kidney. FIG. 3. [liebertpub.com]

There was an encephalocele measuring 12 × 3 cm in the occipital region of the abortus (Fig. 1). [surgexppathol.biomedcentral.com]