In Utero Disappearance of the Corpus Callosum Secondary to Extensive Brain Injury

Weinstein, Amy S; Goldstein, Ruth B.; Barkovich, A. James

doi:10.7863/jum.2003.22.8.837

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…A number of causative genetic variants have been identified for MCD, most of which are thought to impair at least one of these processes [Barkovich et al, 2012; Poretti, Boltshauser, & Huisman, 2014]. Several MCD, including polymicrogyria, gray matter heterotopia, and cortical dysplasia, in addition to agenesis/dysgenesis of the corpus callosum, have well-described ischemic etiologies [Barth & van der Harten, 1985; Poretti et al, 2009; Weinstein, Goldstein, & Barkovich, 2003]. In PHACE syndrome, such malformations could theoretically result from the same hypoxic environment in utero that predisposes to anomalies of the posterior fossa.…”

Section: Discussionmentioning

confidence: 99%

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Steiner

McCoy

Hess

et al. 2017

American J of Med Genetics Pt A

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PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. All registry patients with a diagnosis of definite PHACE syndrome who had MRI scans of satisfactory quality were included. Of 55 patients, 34 (62%) demonstrated ≥1 non-vascular intracranial anomaly; structural brain malformations were present in 19 (35%). There was no difference in the prevalence of brain anomalies between genders. Brain anomalies were more likely in patients with S1 and/or S2 distribution of facial hemangioma. The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%). Dandy-Walker complex and malformations of cortical development were present in 9% and 7%, respectively. Extra-axial findings such as pituitary anomalies (18%) and intracranial hemangiomas (18%) were also observed. Six patients (11%) had anomalies of the globes or optic nerve/chiasm detectable on MRI. Brain malformations comprise a diverse group of structural developmental anomalies that are common in patients with PHACE syndrome. Along with brain malformations, numerous abnormalities of the pituitary, meninges, and globes were observed, highlighting the need for careful radiologic assessment of these structures in the neuroimaging workup for PHACE syndrome.

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Section: Discussionmentioning

confidence: 99%

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Steiner

McCoy

Hess

et al. 2017

American J of Med Genetics Pt A

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“…Abrupt disruption of an otherwise normally developing cerebellum is suggested by the normal bony posterior fossa, 4 consistent with an ischemic etiology for cerebellar anomalies. Similarly, transient or permanent vascular insult and in utero ischemia are well-established causes for polymicrogyria, 25 callosal dysgenesis, 26 heterotopia, 27 cerebellar hypoplasia, 28 and other malformations of cortical development.…”

Section: Discussionmentioning

confidence: 99%

Cervical and Intracranial Arterial Anomalies in 70 Patients with PHACE Syndrome

Hess¹,

Fullerton²,

Metry³

et al. 2010

AJNR Am J Neuroradiol

115

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BACKGROUND AND PURPOSE Cerebral and cervical arterial abnormalities are the most common non-cutaneous anomaly in PHACE syndrome, but the location and type of arterial lesions that occur have not been systematically assessed in a large cohort. Our aim was to characterize the phenotypic spectrum of arteriopathy, assess the frequency with which different arteries are involved, and evaluate spatial relationships between arteriopathy, brain structural lesions, and hemangiomas in PHACE syndrome. MATERIALS AND METHODS Intracranial MRA and/or CTA images from 70 children and accompanying brain MR images in 59 patients with arteriopathy and PHACE syndrome were reviewed to identify the type and location of arterial lesions and brain abnormalities. Five categories of arteriopathy were identified and used for classification: dysgenesis, narrowing, nonvisualization, primitive embryonic carotid-vertebrobasilar connections, and anomalous arterial course or origin. Univariate logistic regression analyses were performed to test for associations between arteriopathy location, hemangiomas, and brain abnormalities. RESULTS By study design, all patients had arterial abnormalities, and 57% had >1 form of arteriopathy. Dysgenesis was the most common abnormality (56%), followed by anomalous course and/or origin (47%), narrowing (39%), and nonvisualization (20%). Primitive embryonic carotid-vertebrobasilar connections were present in 20% of children. Hemangiomas were ipsilateral to arteriopathy in all but 1 case. The frontotemporal and/or mandibular facial segments were involved in 97% of cases, but no other specific associations between arteriopathy location and hemangioma sites were detected. All cases with posterior fossa anomalies had either ICA anomalies or persistent embryonic carotid-basilar connections. CONCLUSIONS The arteriopathy of PHACE syndrome commonly involves the ICA and its embryonic branches, ipsilateral to the cutaneous hemangioma, with dysgenesis and abnormal arterial course the most commonly noted abnormalities. Brain abnormalities are also typically ipsilateral.

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“…1977). The causative link between cellular metabolism disorders and callosal agenesis is unclear, although the majority of callosal abnormalities are hypoplastic, and may be secondary to post-natal CNS development or white matter injury (Bamforth et al, 1988;Weinstein et al, 2003). Deficient cholesterol synthesis, in particular, has been linked with abnormal neurological development.…”

Section: Abnormal Post-guidance Developmentmentioning

confidence: 99%

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Edwards

Sherr²,

Barkovich

et al. 2014

Brain

Self Cite

312

297

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The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.

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In Utero Disappearance of the Corpus Callosum Secondary to Extensive Brain Injury

Cited by 6 publications

References 11 publications

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Cervical and Intracranial Arterial Anomalies in 70 Patients with PHACE Syndrome

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

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