Decreased maternal age with hydranencephaly

Lubinsky, Mark; Adkins, William N.; Kaveggia, Elizabeth G.

doi:10.1002/(sici)1096-8628(19970331)69:3<232::aid-ajmg3>3.3.co;2-b

Cited by 6 publications

(9 citation statements)

References 2 publications

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“…Numerous anomalies are postulated to arise from vascular disruptions, defined as structural anomalies resulting from damage to or interruption of normal embryonic fetal development of vessels that may be caused by disruption of newly formed vessels, premature ablation of transient vessels, or aberrant regulation of vessel formation [Van Allen, 1992]. Gastroschisis and hydranencephaly are among these anomalies and are observed to be associated with decreased maternal age [Lubinsky, 1997; Lubinsky et al, 1997]. The maternal age of this reported case was 18 years, which is in keeping with these observations.…”

Section: Discussionsupporting

confidence: 74%

“…Animal studies have shown that occlusion of the carotid arteries can produce hydranencephaly [Myers, 1969; Myers, 1989; Wintour et al, 1996]. Hydranencephaly and other conditions postulated to arise from vascular disruptions have been associated with young maternal age [Lubinsky, 1997; Lubinsky et al, 1997]. We report an infant with hydranencephaly and congenital vascular malformations including cutaneous vascular malformations.…”

Section: Introductionmentioning

confidence: 87%

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Hydranencephaly in an infant with vascular malformations

2001

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Hydranencephaly is a condition in which cerebral hemispheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed. We report a male infant with hydranencephaly and congenital vascular malformations (port wine stains, generalized nevus flammeus, anomalous retinal vessels, and absent internal carotid flow). Magnetic resonance imaging of the brain showed absence of most of the cerebrum except for small portions of the occipital cortex and thalami. Magnetic resonance angiography showed flow within the vertebral and basilar arteries without internal carotid intracranial flow above the internal carotid petrous and cavernous portion. This is a report of cutaneous and retinal malformations associated with hydranencephaly. Vascular malformations of larger vessels (e.g., webbing of the carotid arteries and an absent internal carotid arterial system) have been observed in other infants with hydranencephaly, and are proposed to lead to brain destruction. The case reported herein supports the role of primary vascular malformations in the development of some cases of hydranencephaly.

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Section: Discussionsupporting

confidence: 74%

Section: Introductionmentioning

confidence: 87%

Hydranencephaly in an infant with vascular malformations

2001

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“…This may not be limited to gastroschis: There is a comparable excess of younger mothers in septo‐optic dysplasia, as well as optic hypoplasia (a probable forme fruste ), and hydran‐ and schiz‐encephaly; optic hypoplasia also showed excess of young mothers primarily in whites, increased first pregnancies, and increasing frequency. Vascular disruption has been suggested as a cause for all these disorders [Lubinsky et al, 1997; Lubinsky, 1997a, b; Curry et al, 2005; Murray et al, 2005; Riedl et al, 2008; Garcia‐Filion et al, 2008a; Howe et al, 2011].…”

Section: Discussionmentioning

confidence: 99%

“…These by‐products also explain palmitic acid rich amniotic vacuoles in gastroschisis [Jones et al, 2009]. A maternal age effect generally seems to involve thrombosis, but later events seem to induce internal vascular disruption [Lubinsky et al, 1997; Lubinsky, 1997a, b; Curry et al, 2005; Murray et al, 2005; Riedl et al, 2008; Howe et al, 2011], while early events primarily affect signaling. Gastroschisis may share a thrombosis/signaling pathogenesis with limb‐body wall defects, which also show a strong decreased maternal age effect and arise early in development [Mastroiacovo et al, 1992; Martínez‐Frías, 1997; Martínez‐Frías et al, 2000], and in some cases show amniotic vacuoles [Opitz and Pysher, 2008].…”

Section: Introductionmentioning

confidence: 99%

Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis

Lubinsky

2012

American J of Med Genetics Pt A

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A three-part hypothesis is proposed to explain the unusual epidemiology of gastroschisis, a congenital abnormality of the abdominal wall, which has a rising frequency, a higher rate in first and young mothers in whites but not blacks, and a unique negative correlation with obesity. The hypothesis involves: (1) An early estrogenic thrombophilia, (2) racial differences in thrombosis, and (3) thrombotic by-products interfering with early developmental signaling. For the first: (1) An estrogenic thrombophilia is a known effect. (2) A mouse model links excess estrogen to thromboses affecting the fetus. (3) Young and first mothers have higher first trimester estrogen levels. (4) A negative correlation between body mass index and pregnancy estradiol accounts for the weight relationship. (5) Maternal alcohol raises estrogen levels in premenopausal women. (6) A link with atrazine, an estrogenic endocrine disruptor, has been found, and rising frequencies of gastroschisis make this and other such chemicals a particular concern if estrogen is indeed involved. For the second: Blacks have a different thrombophilic gene background and less of a thrombotic response to estrogen than whites, explaining racial differences. For the third: Protein palmitoylation affects cell signaling in development, and lipid rafts, a major aspect of thromboses, facilitate this process. Such thrombotic byproducts could be the source of palmitic acid rich amniotic vacuoles with gastroschisis. Similar vacuoles can occur with limb-body wall defects, another early developmental anomaly associated with decreased maternal age that may have a similar pathogenesis. Later thrombotic related anomalies with a similar epidemiology seem to primarily involve vascular disruptions, but localized signaling anomalies may also occur.

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“…SOD has also been associated with decreased maternal age [Lippe et al, 1979]. This phenomenon has been observed with other congenital anomalies due to vascular disruption such as gastroschisis [Torfs et al, 1990, 1994] and hydranencephaly [Lubinsky, 1997b; Lubinsky et al, 1997] SOD has been reported to occur with exposure to several teratogens, some of which are known to have vascular effects including cocaine [Dominguez et al, 1991], alcohol [Coulter et al, 1993], and phenylpropanolamine [Dominguez et al, 1991]. There are numerous reports of patients with SOD and either porencephaly [Zaias and Becker, 1978; Morgan et al, 1985] or schizencephaly [Barkovich et al, 1989; Kuban et al, 1989], both of which may be due to a disturbance in vascular supply, at least in some instances.…”

Section: Discussionmentioning

confidence: 99%

Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis

Stevens

Dobyns

2003

American J of Med Genetics Pt A

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Septo-optic dysplasia (SOD) is a heterogeneous disorder. While most cases represent an isolated defect, SOD has also been seen in association with mutations in single genes, as a part of multiple congenital anomaly syndromes and with exposure to various teratogens. We report a boy with features of SOD who also has limb defects suggestive of amniotic bands. This case, in addition to others in the literature, provides evidence for a vascular pathogenesis of SOD in some individuals. This hypothesis is also supported by the sporadic occurrence of SOD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults.

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Decreased maternal age with hydranencephaly

Cited by 6 publications

References 2 publications

Hydranencephaly in an infant with vascular malformations

Hydranencephaly in an infant with vascular malformations

Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis

Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis

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