Differential diagnosis in fetuses with absent septum pellucidum

Malinger, G.; Lev, Dorit; Kidron, Dvora; Heredia, Fernando Martínez; Hershkovitz, R.; Lerman‐Sagie, Tally

doi:10.1002/uog.1787

Cited by 112 publications

(112 citation statements)

References 16 publications

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“…Absent SP with communicating frontal horns may indicate SOD or lobar HPE, or it may even be an isolated anomaly (Lepinard et al, 2005;Malinger et al, 2005;Pilu et al, 2005). On coronal view, the sonographic aspect of absence of SP results in a squared appearance of the frontal horns with inferior pointing.…”

Section: Sonographic Findingsmentioning

confidence: 99%

Disorders of prosencephalic development

Volpe¹,

Campobasso²,

Robertis³

et al. 2009

Prenatal Diagnosis

107

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Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies.Corpus callosum agenesis and septo-optic dysplasia are disorders of prosencephalic midline development, and usually have less severe presentations but still, affected subjects may suffer from neurodevelopmental retardation, and/or endocrinologic and visual disorders.In this article we report an up-to-date of pathogenesis, prenatal sonographic findings, differential diagnosis and prognosis of the aforementioned anomalies.

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Section: Sonographic Findingsmentioning

confidence: 99%

Disorders of prosencephalic development

Volpe¹,

Campobasso²,

Robertis³

et al. 2009

Prenatal Diagnosis

107

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show abstract

“…Indeed, failure to identify the CSP is a key feature in the diagnosis of the large spectrum of both holoprosencephalies and commissural anomalies, such as complete corpus callosal agenesis, septo-optic dysplasia (malformative origin), schizencephaly (ischemic insult) and obstructive ventriculomegaly (barotraumatic insult) 2 -6 . As absence of the CSP is one of the main findings of midline anomalies, it should be considered as a marker of abnormal central nervous system organization and not as a malformation per se, since isolated absence of the CSP can be observed in normal individuals 4,7 . In our experience, some patients referred to our institution with isolated ventriculomegaly in fact had undiagnosed corpus callosal agenesis, despite the presence of the CSP being mentioned in their previous ultrasound reports ( Figure 1).…”

Section: From Cavum Septi Pellucidi To Anterior Complex: How To Impromentioning

confidence: 99%

From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities

Cagneaux

Guibaud

2013

Ultrasound in Obstet & Gyne

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“…L'agénésie du SP est le plus souvent associée à d'autres malformations cérébrales comme, ladysplasiesepto-optique (SOD), l'agénésie du corps calleux (ACC), l'holoprosencéphalie (HPE) ou l'hydrocéphalie, … En Israel, dans une série de 25 foetus avec agénésie du SP, 12 avaient des images échographiques classiques suggestives d'HPE dont 8 HPE alobaire et 4 HPE sémilobaire, les autres foetus ont eu comme malformations cérébrales associées : SOD, hydrocéphalie, schizencéphalie, l'ACC, porencéphalie [1]. Il est à noter que l'agénésie pouvant être associée aux anomalies chromosomiques, sur 6 analyses du caryotype disponible dans sa série, deux foetus étaient porteurs d'une trisomie 13 et un d'une triploïdie.…”

Section: Discussionunclassified