Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: Report of two cases

Zantow, Emily; Bryant, Stefanie; Pierce, Stephanie L.; DuBois, Molly; Maxted, Marta; Porter, Blake

doi:10.1002/jcu.22984

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…Imaging findings in MIHV are manifested by the absence of the corpus callosum as well as failure to separate the posterior frontal and parietal lobes, but the hypothalamus and lentiform nuclei are usually separated normally. 7 It has seen that only 3 of the cases in the literature were diagnosed before the 20 th week of pregnancy. 3,8 Our case was also diagnosed in the early period of the 2 nd trimester.…”

Section: Discussionmentioning

confidence: 99%

Sonographic Diagnosis of the Middle Interhemispheric Variant of Holoprosencephaly in the Prenatal Period

ÖZALP¹,

SALMAN²,

Mihmanlı³

2022

Turkiye Klinikleri J Case Rep

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Holoprosencephaly (HPE) is a disorder of development and separation of prosencephalic vesicles. The prosencephalon cannot be divided sagittally into the cerebral hemispheres, transversely into the diencephalon and telencephalon, and horizontally into the olfactory and optic spheres on during develepment. There are 3 main types of HPE: alobar, semilobar, and lobar. 1 The incidence is higher in abortions compared to live births (1/200-250 abortions and 1/10,000 live births). 1,2 Recently, middle interhemispheric variant (MIHV) or syntelencephaly, which is a milder form of the disease compared to these 3 main types, has been defined, and 6 articles in the literature reported that there are 11 MIHV cases diagnosed during the prenatal period. 3,4 MIHV is usually a milder variant with the characteristic sonographic findings of a single fused ventricle and absence of the cavum septum pellucidum (CSP). The separation of the posterior part of the frontal lobe and the parietal lobe is impaired in MIHV. The basal forebrain, anterior frontal and occipital lobes are normally separa-ted. 3,4 Etiology is multifactorial and most cases are sporadic. However, the disease has also been associated with teratogenic exposure, intrauterine infections, maternal metabolic diseases, genetic disorders such as chromosomal aneuploidies and single gene disorders. 5

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Section: Discussionmentioning

confidence: 99%

Sonographic Diagnosis of the Middle Interhemispheric Variant of Holoprosencephaly in the Prenatal Period

ÖZALP¹,

SALMAN²,

Mihmanlı³

2022

Turkiye Klinikleri J Case Rep

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“…Esta condición fue descrita en 1993 3 y también se denomina variante interhemisférica media. Las regiones basales y los lóbulos occipitales están normalmente separados y habitualmente no hay anomalías craneofaciales [7][8][9] .…”

Section: Introductionunclassified

Utilidad del complejo posterior para el diagnóstico prenatal de sintelencefalia

Viñals,

Okuma,

Vega

et al. 2024

RECHOG

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Introducción y objetivo: Demostrar el valor del plano axial del complejo posterior, como apoyo a la detección antenatal de sintelencefalia, variante de holoprosencefalia. Método: Se incluyeron todas las pacientes con diagnóstico de sintelencefalia evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de neurosonografía (NSG), de resonancia magnética (RM) y genética. Resultados: Cuatro casos fueron diagnosticados en el segundo trimestre y en todos se realizó estudio genético y RM. Tres tuvieron en su evolución anomalías extra-SNC y dos de ellos alteraciones cromosómicas, una de ellas incompatible con la vida extrauterina. Lo hallazgos descritos en neuroimagen para esta afección fueron detectados en la NSG, con una excelente correlación con RM, ya fuera esta última realizada en periodo fetal o posnatal. Conclusión: El diagnóstico prenatal de variantes de holoprosencefalia es difícil, considerando la existencia de una fusión medial más acotada que en las formas clásicas. El presente estudio demuestra la utilidad del plano del complejo posterior para la sospecha diagnóstica de sintelencefalia.

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Children with Complex Needs

Chambers,

Corkin

2023

Care Planning in Children and Young People's Nursing 2e

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Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: Report of two cases

Cited by 3 publications

References 9 publications

Sonographic Diagnosis of the Middle Interhemispheric Variant of Holoprosencephaly in the Prenatal Period

Sonographic Diagnosis of the Middle Interhemispheric Variant of Holoprosencephaly in the Prenatal Period

Utilidad del complejo posterior para el diagnóstico prenatal de sintelencefalia

Children with Complex Needs

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