Alobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania

Ariyo, Ibukun John; Mchaile, Deborah; Magwizi, Marco; Kayuza, Michael; Mrindoko, Phillip; Chussi, Desderius

doi:10.1016/j.ijscr.2022.106960

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…It affects 1 in 10,000 live births, with females being affected more often than males. 1 Ethmocephaly is the rarest sub-type of holoprosencephaly 2,3 characterized by an undivided cerebrum and a single ventricle. Physical manifestations include two well-formed orbits with absent or hypoplastic globes, hypotelorism, lowset ears, and a mid-line facial abnormality with a central proboscis.…”

Section: Introductionmentioning

confidence: 99%

Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

Geta,

Mesfin,

Tsegaye

et al. 2024

RRN

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Holoprosencephaly results from incomplete cleavage of the forebrain during embryogenesis. Clinical phenotypes vary from mild to severe. We present a case of a liveborn infant with the most severe form of holoprosencephaly, ethmocephaly, which in most cases is incompatible with survival beyond the immediate newborn period. Case: A 2000 gram, male infant was born to a 28-year-old gravida who was human immunodeficiency virus (HIV)-positive and receiving antiretroviral therapy. At birth the infant was lethargic and had poor respiratory effort with central and peripheral cyanosis. On physical examination, we found ocular hypotelorism, a 6 cm midline proboscis located above the eyes and absent nasal structures. Conclusion:Early detection by the prenatal ultrasound examination is important pregnancy and birth planning and to anticipate expected outcomes. Further study is indicated to understand the contribution of HIV infection and its treatment to the development and severity of holoprosencephaly.

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Section: Introductionmentioning

confidence: 99%

Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

Geta,

Mesfin,

Tsegaye

et al. 2024

RRN

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“…The most severe type of HPE, known as alobar HPE, is life-threatening and manifests clinically as facial dysmorphism with hypotelorism, microcephaly, and a blind ended nostril [3].…”

Section: Introductionmentioning

confidence: 99%

Alobar Holoprosencephaly in a Neonate: A Rare Case Report and Review of the Literature

Bahari,

Hajaj,

Ayyad

et al. 2023

OJPed

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Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrain. There are three clinical forms: lobar, semi-lobar, alobar and another milder subtype of HPE called middle interhemispheric. In this clinical case, we present a newborn with alobar holoprosencephaly and we highlight the clinical, radiological and progressive clinical aspects of this illness during the neonatal period.

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The Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report

Mohamed,

Ahmed,

Elsayed Ahmed

et al. 2024

Cureus

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Holoprosencephaly (HPE) is a developmental defect that affects the brain structure due to failure or incomplete division of the prosencephalon at the third week to the fourth week of gestation into cerebral hemispheres. Although the exact cause of HPE remains unclear, it is suspected to result from a combination of genetic and environmental factors. We report a case of alobar HPE. This case was diagnosed on antenatal ultrasonography in a 42-year-old female (Gravida 3, Para 2) with an unremarkable family history and absence of any risk factors. The association of alobar HPE with an atrioventricular canal defect, left-sided clubfoot, and omphalocele, in this case, constitutes a rare fetal morphological presentation. This case highlights the crucial role of regular antenatal ultrasound scans in the early detection of fatal anomalies like alobar HPE.

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Alobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania

Cited by 3 publications

References 11 publications

Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

Alobar Holoprosencephaly in a Neonate: A Rare Case Report and Review of the Literature

The Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report

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