Aicardi and Turner syndrome in a 45,X0/46,XX female

Spennato, Pietro; Porta, Alessandro La; Varone, Antonio; Ruggiero, Claudio; Buono, Salvatore; Cinalli, Giuseppe

doi:10.1016/j.clineuro.2012.07.030

Cited by 9 publications

(3 citation statements)

References 5 publications

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“…Hydrocephalus can occur as an inconstant accompaniment to several other brain malformations including holoprosencephaly [49], rhombencephalosynapsis [50], Aicardi syndrome [51], agenesis of the corpus callosum [52], lissencephaly (though mostly in the context of severe forms such as X-linked lissencephaly with abnormal genitalia) [53] and periventricular heterotopia [54], among others.…”

Section: Hydrocephalus Without Major Additional Physical Features (Tamentioning

confidence: 99%

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully¹,

Dobyns²

2014

European Journal of Medical Genetics

324

246

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Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

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Section: Hydrocephalus Without Major Additional Physical Features (Tamentioning

confidence: 99%

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully¹,

Dobyns²

2014

European Journal of Medical Genetics

324

246

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“…CPP whilst uncharacteristic of TS, is characteristic of another syndrome, which has been reported to coexist with TS in some cases and a prominent cause for miscarriage-Aicardi syndrome (AS) [4,5]. AS is a rare X-linked genetic syndrome with a yet unidentified cause, resulting in a number of tumors in different locations in the fetal, neonatal and early childhood period, the most prominent of which is CPP.…”

Section: Discussionmentioning

confidence: 99%

Early Second-Trimester Spontaneous Miscarriage Due to Fourth Ventricle Choroid Plexus Papilloma

Stoyanov

Kobakova

Stoyanov

et al. 2018

Journal of Fetal Medicine

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Miscarriage due to fetal tumors is an extremely rare finding, with a varying incidence from 1.7 to 13.5 per 100,000 live births, with central nervous system tumors occupying a minority of these cases. Herein, we report the gross morphological and histological findings of a 17-gestational week spontaneous miscarriage in a 27 year old multi-gravida due to a fourth ventricle choroid plexus papilloma (CPP). The CPP was composed of a pronoun fibro-vascular stroma covered with a dense lining of tall cuboid sparsely ciliated single cell layer with rich in chromatin nuclei. The cytoplasm of the CPP covering cells was intensely colored when compared to the pale cytoplasm of the covering cells of the choroid plexus collected from the lateral ventricle, which also lacked in such pronoun fibrovascular stroma. The fourth ventricle was significantly dilated with parenchymal compression of nervous tissue towards the chondral fetal cranium.

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“…Ventriculomegaly is significantly associated with agenesis of corpus callosum, as well as O(+) blood group of the mother, when compared to other blood groups (OR = 3.614; CI: 1.044-12.510). Hydrocephalus may be associated with other brain malformations such as holoprosencephaly, rhombencephalosynapsis, Aicardi syndrome, agenesis of corpus callosum, and periventricular heterotopia [27][28][29][30][31].…”

Section: Discussionmentioning

confidence: 99%