Abstract
Holoprosencephaly with unfused thalami is a rare malformation involving the forebrain and the face. The epidemiology of the disease is poorly known due to paucity of population based studies. A 32-year-old grand multipara at 27th week gestation found on routine ultrasound examination to have a single live fetus with the fetal head showing dilated single cerebral ventricle, with no evidence of anterior midline echo (falx, inter hemispheric cistern and septum pellucidum). The thalami appear relatively small but not fused with a thin midline linear echoic septum separating them. Two subsequent sonograms at 30th and 33rd weeks of pregnancy, including coronal sonograms of the fetal head, correctly identified a dilated single cerebral ventricle. There was no history of diabetes mellitus, hypertension or previously affected child. Pregnancy termination was done on the couple's request, because of the poor fetal prognosis. Postmortem clinical examination revealed a female newborn with normal body structure. The couple declined consent for autopsy. Alobar holoprosencephaly with unfused thalami is a rare and severe variety of holoprosencephaly with poorly understood aetiology and poor prognosis.
Highlights
With unfused thalami is a rare malformation involving the forebrain and the face
Case Report: A 32-year-old grand multipara at 27th week gestation found on routine ultrasound examination to have a single live fetus with the fetal head showing dilated single cerebral ventricle, with no evidence of anterior midline echo
There was no history of diabetes mellitus, hypertension or previously affected child
Summary
The most common malformation of the forebrain in humans, is a structural anomaly of the brain resulting from failed or incomplete forebrain division in the third to fourth weeks of gestation [1, 2]. Three distinct types of holoprosencephaly have been documented in the literature, which include lobar, semilobar and alobar The latter is the severest with characteristic intracranial findings of monoventricular cavity, fused thalami, and absence of midline structures such as the corpus callosum and falx cerebri [7]. Sonographic examination of the gravid uterus revealed a single live fetus. The thalami appear relatively small but not fused; with a thin midline linear echoic septum separating them It protrudes into the single ventricular cavity. Biparietal diameter, head circumference, abdominal circumference, and femur length were all consistent with the clinically estimated gestational age of 27 weeks. Two subsequent sonograms at 30 and 33 weeks of pregnancy, including coronal sonograms of the fetal head, correctly identified a dilated single cerebral ventricle.
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