Holoprosencephaly with agenesia of the prosencephalic ventricle

Laure‐Kamionowska, Milena; Sztefko, Krystyna; Klepacka, Teresa

doi:10.5114/fn.2015.56553

Cited by 4 publications

(1 citation statement)

References 26 publications

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“…9 To date, the human medical literature now includes several reports of this condition, including 4 cases of living patients and 1 of a premature infant that died 1 hour after birth. [9][10][11][12][13] Our report is the first case of radiographically confirmed aventriculi and HPE in veterinary medicine.…”

Section: Signalment History and Clinical Findingsmentioning

confidence: 99%

Aventriculi associated with holoprosencephaly in a dog

Barnard¹,

Durand

Blume³

et al. 2020

Veterinary Internal Medicne

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Case Description: A 10-month-old neutered male mixed breed dog was presented for assessment of poorly controlled seizures. Clinical Findings: Magnetic resonance imaging of the brain disclosed complete absence of the lateral and third ventricles and mesencephalic aqueduct. Postmortem computed tomographic (CT) imaging and positive contrast cisterno-ventriculography confirmed the lack of a contiguous ventricular system. However, histopathology identified the presence of vestigial lateral and third ventricles with hypoplastic choroid plexus, atresia of the third ventricle, and fused thalami, consistent with a diagnosis of lobar holoprosencephaly (HPE).

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Section: Signalment History and Clinical Findingsmentioning

confidence: 99%

Aventriculi associated with holoprosencephaly in a dog

Barnard¹,

Durand

Blume³

et al. 2020

Veterinary Internal Medicne

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Neuropathology of holoprosencephaly

Fallet-Bianco

2018

American J of Med Genetics Pt C

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Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. The spectrum of HPE is very broad and encompasses various neuropathological phenotypes of different severity. The recent literature has demonstrated that the phenotypic variability of HPE ranges from aprosencephaly-atelencephaly, at the most severe end, to milder forms such as the "middle interhemispheric variant" of HPE at the less severe end of the spectrum. Between them, different intermediate forms demonstrate a continuum in a wide phenotypic spectrum rather than well-defined categories. Although the term "HPE" suggests a disorder affecting only the prosencephalon, other brain structures are involved, underlining the complexity of the malformation. Because of close spatiotemporal interactions and common signaling pathways contributing to the development of both brain and face, concomitant facial and ocular anomalies are associated with brain malformation. In this review, the characteristic neuropathological features of the various forms of HPE are described as well as their associated brain, face, and ocular malformations, to delineate the different phenotypes.

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Brain Malformations

Fallet-Bianco

2022

Keeling's Fetal and Neonatal Pathology

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Holoprosencephaly with agenesia of the prosencephalic ventricle

Abstract: A b s t r a c t

Cited by 4 publications

References 26 publications

Aventriculi associated with holoprosencephaly in a dog

Aventriculi associated with holoprosencephaly in a dog

Neuropathology of holoprosencephaly

Brain Malformations

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