Dorsal third ventricular cyst: an entity distinct from holoprosencephaly

Young, Jodi N.; Wj, Oakes; Hp, Hatten

doi:10.3171/jns.1992.77.4.0556

Cited by 29 publications

(8 citation statements)

References 16 publications

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“…The dorsal cyst of HPE is similar in appearance to the interhemispheric cyst associated with CAIHC type 1b (Fig. 12) [Young et al, 1992; Barkovich et al, 2001]. The thalamic nuclei may be nonseparated in some patients with CAIHC, thus creating a blockage of CSF egress.…”

Section: Other Brain Structures Involved In Hpementioning

confidence: 95%

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Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

Hahn

Barnes²

2010

American J of Med Genetics Pt C

145

139

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Holoprosencephaly (HPE) is a complex congenital brain malformation characterized by failure of the forebrain to bifurcate into two hemispheres, a process normally completed by the fifth week of gestation. Modern high-resolution brain magnetic resonance imaging (MRI) has allowed detailed analysis of the cortical, white matter, and deep gray structural anomalies in HPE in living humans. This has led to better classification of types of HPE, identification of newer subtypes, and understanding of the pathogenesis. Currently, there are four generally accepted subtypes of HPE: alobar, semilobar, lobar, and middle interhemispheric variant. These subtypes are defined primarily by the degree and region of neocortical nonseparation. Rather than there being four discrete subtypes of HPE, we believe that there is a continuum of midline neocortical nonseparation resulting in a spectrum disorder. Many patients with HPE fall within the border zone between the neighboring subtypes. In addition, there are patients with very mild HPE, where the nonseparation is restricted to the preoptic (suprachiasmic) area. In addition to the neocortex, other midline structures such as the thalami, hypothalamic nuclei, and basal ganglia are often nonseparated in HPE. The cortical and subcortical involvements in HPE are thought to occur due to a disruption in the ventral patterning process during development. The severity of the abnormalities in these structures determines the severity of the neurodevelopmental outcome and associated sequelae.

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Section: Other Brain Structures Involved In Hpementioning

confidence: 95%

“…The dorsal cyst of HPE is similar in appearance to the interhemispheric cyst associated with agenesis of the corpus callosum [Young et al, 1992]. The latter is frequently misdiagnosed as HPE, but is distinguished by normal cleavage of the basal forebrain structures.…”

Section: Other Brain Structures Involved In Hpementioning

confidence: 99%

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

Hahn

Barnes²

2010

American J of Med Genetics Pt C

145

139

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“…Despite the superiority of MRI for identifying and characterizing these malformations, there is still a great deal of confusion regarding their classification, terminology, and spectrum of expression. [5][6][7][8] This confusion is best resolved by a more complete understanding of human neuroembryology. 9,10 Familiarity with the normal embryonic development of the brain is helpful for understanding the pathogenesis and imaging appearance and for categorizing various terminologies that have been used to describe midline cystic malformations of the brain.…”

Section: Introductionmentioning

confidence: 99%

Midline cystic malformations of the brain: imaging diagnosis and classification based on embryologic analysis

et al. 2006

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This article describes a classification and imaging diagnosis of intracranial midline cystic malformations based on neuroembryologic analysis. Midline cystic malformations are classified into two categories from an embryologic point of view. In one category, the cyst represents expansion of the roof plate of the brain vesicle, and in the other the cyst consists of extraaxial structures such as an arachnoid membrane or migrating ependymal cells. Infratentorial cysts, such as the Dandy-Walker cyst or Blake's pouch cyst, and supratentorial cysts, such as a communicating interhemispheric cyst with callosal agenesis or a dorsal cyst with holoprosencephaly, are included in the first category. Infratentorial arachnoid cavities, such as the arachnoid cyst, arachnoid pouch, and mega cisterna magna, are in the second category. Noncommunicating interhemispheric cysts, such as interhemispheric arachnoid cyst or ependymal cyst, with callosal agenesis are also in the second category. A careful review of embryologic development is essential for understanding these midline cysts and for making a more accurate radiologic diagnosis.

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“…However, the occurrence of concomitant defects of midline structures with IHC and ventriculomegaly in the feline brain has not been documented. Current major distinct IHC entities described in human patients include ventricular neuroepithelial cysts9, 10, 11 and noncommunicating arachnoid cysts 12, 13, 14. In cats, there is a paucity of case reports of ventriculomegaly,15, 16, 17 mostly in association with arachnoid cysts.…”

mentioning

confidence: 99%

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts

Keating

Sturges

Sisó

et al. 2016

Veterinary Internal Medicne

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BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly. Similar studies providing full characterization of brain defects by in vivo magnetic resonance imaging (MRI), and correlations with the pertinent anatomic pathologic examinations are absent in veterinary medicine.Hypothesis/ObjectivesCongenital brain defects underlie the neurologic signs observed in Toyger cats selectively bred for a short ear phenotype.AnimalsUsing proper pedigree analysis and genetic evaluations, 20 related Oriental‐derived crossbred Toyger cats were evaluated. Seven clinically healthy (carrier) cats and 13 clinically affected cats that had neurologic signs, short ear phenotype and concomitant complex brain anomalies were studied.MethodsComplete physical and neurologic examinations and MRI were performed in all clinically healthy and affected cats. Postmortem and histopathologic examinations were performed in 8 affected cats and 5 healthy cats.ResultsNeurologic and MRI investigations confirmed 13 clinically affected cats with structural brain abnormalities. Ventriculomegaly with frequent concomitant supratentorial interhemispheric, communicating ventricular type‐1b cysts and multiple midline and callosal malformations were detected in all cats displaying neurologic signs. Genetic analysis confirmed autosomal recessive mode of inheritance with no chromosomal abnormalities.Conclusions and Clinical ImportanceNeuroanatomic dissections and histopathology were helpful for evaluation of abnormalities in midline brain structures, and for the full characterization of cysts. However, MRI was more sensitive for detection of small cysts. In this feline model, MRI diagnosis had extremely good correlation with pathologic abnormalities noted in the subset of animals that were examined by both modalities.

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Dorsal third ventricular cyst: an entity distinct from holoprosencephaly

Cited by 29 publications

References 16 publications

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

Midline cystic malformations of the brain: imaging diagnosis and classification based on embryologic analysis

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts

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