Cephaloceles: clinical and neuroradiological appearance

Diebler, C; Dulac, Olivier

doi:10.1007/bf00540233

Cited by 99 publications

(55 citation statements)

References 48 publications

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“…The variant c.4157T.G was detected in a 10-year-old female affected with a severe form of closed NTDs called encephalocele at the parietal lobe of the brain. This type of NTDs is characterized by protrusions of the brain through the skull that are sac-like and covered with membranes (29). The variant c.4157T.G affects a highly conserved valine residue at position 1386 in the transmembrane domain of the protein (Fig.…”

Section: Lpmentioning

confidence: 99%

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Allache

Lachance

Guyot

et al. 2013

Human Molecular Genetics

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Wnt signaling has been classified as canonical Wnt/b-catenin-dependent or non-canonical planar cell polarity (PCP) pathway. Misregulation of either pathway is linked mainly to cancer or neural tube defects (NTDs), respectively. Both pathways seem to antagonize each other, and recent studies have implicated a number of molecular switches that activate one pathway while simultaneously inhibiting the other thereby partially mediating this antagonism. The lipoprotein receptor -related protein Lrp6 is crucial for the activation of the Wnt/b-catenin pathway, but its function in Wnt/PCP signaling remains largely unknown. In this study, we investigate the role of Lrp6 as a molecular switch between both Wnt pathways in a novel ENU mouse mutant of Lrp6 (Skax26 m1Jus ) and in human NTDs. We demonstrate that Skax26 m1Jus represents a hypermorphic allele of Lrp6 with increased Wnt canonical and abolished PCP-induced JNK activities. We also show that Lrp6Skax26-Jus genetically interacts with a PCP mutant (Vangl2 Lp ) where double heterozygotes showed an increased frequency of NTDs and defects in cochlear hair cells' polarity. Importantly, our study also demonstrates the association of rare and novel missense mutations in LRP6 that is an inhibitor rather than an activator of the PCP pathway with human NTDs. We show that three LRP6 mutations in NTDs led to a reduced Wnt canonical activity and enhanced PCP signaling. Our data confirm an inhibitory role of Lrp6 in PCP signaling in neurulation and indicate the importance of a tightly regulated and highly dosage-sensitive antagonism between both Wnt pathways in this process.

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Section: Lpmentioning

confidence: 99%

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Allache

Lachance

Guyot

et al. 2013

Human Molecular Genetics

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“…22 Previous studies report that prognosis for patients with occipital and parietal encephaloceles is directly related to the presence of neural tissue, hydrocephalus, microcephaly, and accompanying cerebral malformations. 6,10,14,20 Hydrocephalus carries a significant morbidity in these children, reported to occur in as many as 60%-90% of patients with posterior encephaloceles, in contrast to a much lower incidence of 10%-15% in anterior encephaloceles. 2,13,23 To date, the risk factors associated with hydrocephalus requiring CSF diversion in infants born with an encephalocele have not been fully investigated.…”

mentioning

confidence: 99%

Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele

Silva

Jeelani

Dang

et al. 2015

PED

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OBJECT There is a known association of hydrocephalus with encephaloceles. Risk factors for hydrocephalus and neurological deficit were ascertained in a series of patients born with an encephalocele. METHODS A retrospective analysis was undertaken of patients treated for encephaloceles at Children's Hospital Los Angeles between 1994 and 2012. The following factors were evaluated for their prognostic value: age at presentation, sex, location of encephalocele, size, contents, microcephaly, presence of hydrocephalus, CSF leak, associated cranial anomalies, and neurological outcome. RESULTS Seventy children were identified, including 38 girls and 32 boys. The median age at presentation was 2 months. The mean follow-up duration was 3.7 years. Encephalocele location was classified as anterior (n = 14) or posterior (n = 56) to the coronal suture. The average maximum encephalocele diameter was 4 cm (range 0.5–23 cm). Forty-seven encephaloceles contained neural tissue. Eight infants presented at birth with CSF leaking from the encephalocele, with 1 being infected. Six patients presented with hydrocephalus, while 11 developed progressive hydrocephalus postoperatively. On univariate analysis, the presence of neural tissue, cranial anomalies, encephalocele size of at least 2 cm, seizure disorder, and microcephaly were each positively associated with hydrocephalus. On multivariate logistic regression modeling, the single prognostic factor for hydrocephalus of borderline statistical significance was the presence of neural tissue (odds ratio [OR] = 5.8, 95% confidence interval [CI] = 0.8–74.0). Fourteen patients had severe developmental delay, 28 had mild/moderate delay, and 28 were neurologically normal. On univariate analysis, the presence of cranial anomalies, larger size of encephalocele, hydrocephalus, and microcephaly were positively associated with neurological deficit. In the multivariable model, the only statistically significant prognostic factor for neurological deficit was presence of hydrocephalus (OR 17.2, 95% CI 1.7–infinity). CONCLUSIONS In multivariate models, the presence of neural tissue was borderline significantly associated with hydrocephalus and the presence of hydrocephalus was significantly associated with neurological deficit. The location of the encephalocele did not have a statistically significant association with incidence of hydrocephalus or neurological deficit. In contrast to modestly good/fair neurological outcome in children with an encephalocele without hydrocephalus, the presence of hydrocephalus resulted in a far worse neurological outcome.

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“…As well as other forms of neural tube defects, encephaloceles may result from genetic factors, probably at more than one locus, interacting with environmental and dietary agents [1, 3, 4, 5, 13, 14]. Etiologic considerations have arisen from animal studies in which cephaloceles habe been produced by folic acid antagonists, trypan blue, vitamin A excess, maternal malnutrition and x-irradiation [14, 15, 16, 17, 18]. Based on these facts, recent clinical study provided the evidence that increasing folic acid intake will reduce fetal open neural tube defects, indicating a protective effect for encephalocele [19].…”

Section: Discussionmentioning

confidence: 99%

An Occipital Encephalocystocele Involving Both Sides of the Lateral Ventricles

Yamada¹,

Miura²,

Matsumoto³

et al. 2000

Pediatr Neurosurg

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We reported a rare case of an occipital encephalocystocele linked by bilateral posterior horns of the lateral ventricles. The subject was a newborn girl with a large occipital cephalocele (6 × 9 cm in diameter) covered with alopetic skin. Cerebrospinal fluid leakage was not observed. The fontanel was soft, but a characteristic flat forehead was noted. Neither neurological deficits nor cardiopulmonary dysfunctions were evident at birth. Magnetic resonance images revealed that the sac contained the occipital lobes and that the cavity was linked by bilateral posterior horns. Agenesis of the corpus callosum and dysgenesis of the falx cerebri were associated. Fifteen days after birth, the cephalocele was removed surgically. Cutting sections revealed that the cephalocele contained enlarged bilateral posterior horns and cerebral hemispheres. The postoperative course was uncomplicated by hydrocephalus or infection, and the patient was discharged without any neurological deficit 22 days after surgery. Her milestone was survival; and at present 12 months after surgery, she is alive with moderate developmental retardation.

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Cephaloceles: clinical and neuroradiological appearance

Cited by 99 publications

References 48 publications

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele

An Occipital Encephalocystocele Involving Both Sides of the Lateral Ventricles

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