International journal of surgery case reports · 2023
Holoprosencephaly (HPE) : case report and review of the literature.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Fedoua Watik, Mouna Harrad, Hasana Said, Boufettal Houssine, Mahdaoui Sakher, Samouh Naima
Аннотация
INTRODUCTION: Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development.
CASE PRESENTATION: We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant.
DISCUSSION: Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly.
CONCLUSION: Its fetal prognosis is extremely guarded, particularly for the alobar form.
CASE PRESENTATION: We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant.
DISCUSSION: Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly.
CONCLUSION: Its fetal prognosis is extremely guarded, particularly for the alobar form.