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Updated: Jun 22, 2026
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Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
[Holoprosencephaly: foetopathologic study of 15 cases]
Ahlem Lahmar-Boufaroua1, Mohamed T Yacoubi, Salem Mellouki
1Service d'anatomie pathologique, hôpital Farhat Hached Sousse.
La Tunisie Medicale
|May 29, 2009
Summary
Holoprosencephaly (HPE) is a severe brain anomaly. This study details neuropathologic patterns in 15 cases, finding most were alobar HPE, often syndromic with poor neonatal outcomes, necessitating genetic counseling.
Area of Science:
- Neuropathology
- Developmental Biology
- Medical Genetics
Context:
- Holoprosencephaly (HPE) is a rare congenital brain malformation with diverse causes.
- Understanding HPE's neuropathologic spectrum is crucial for diagnosis and genetic counseling.
- This study examines 15 HPE cases from Sousse, Tunisia, over 11 years.
Purpose:
- To describe the neuropathologic patterns of holoprosencephaly.
- To correlate findings with antenatal diagnoses and genetic factors.
- To inform genetic counseling strategies for affected families.
Summary:
- 15 cases of HPE were neuropathologically examined, with 13 alobar and 2 semilobar.
- Antenatal diagnosis via ultrasound revealed hydrocephalus, microcephaly, growth delay, and facial dysmorphism (cyclopia).
- HPE was syndromic in 13 cases, with 3 confirmed chromosome abnormalities; consanguinity was high (45%).
Impact:
- The study highlights the poor neonatal prognosis of most HPE forms, supporting pregnancy interruption except for lobar HPE.
- Emphasizes the need for thorough family history and genetic counseling.
- Contributes to classifying HPE syndromes and understanding its etiology.
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